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Gene: Nfatc1 MGI:102469

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Gene Summary

Name:
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
Synonyms:
NF-ATc,  NFAT2,  NFATc,  2210017P03Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nfatc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nfatc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... OMIM:618048
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor... ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... ORPHA:397596
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Gastroesoph... ORPHA:2414
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level OMIM:618495
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... ORPHA:1041
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Gastrointestinal infarc... OMIM:602248
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Myeloma, Multiple
Paraproteinemia OMIM:254500
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Ethanolaminosis
Cardiomegaly OMIM:227150
Primary Effusion Lymphoma
Pericardial effusion, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... OMIM:620210
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym... OMIM:615934
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... OMIM:619802
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Anorexia, Congestive heart failure, Paroxysmal atrial ... ORPHA:49827
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Gastrointestinal dysmotility, Gastroe... ORPHA:363705
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Feeding difficulties, Pleural effusion, Bradycardia, Hypertro... OMIM:614702
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Reticular Dysgenesis
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:33355
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... OMIM:615816
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... OMIM:615559
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia ORPHA:100025
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, ... ORPHA:3405
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Caffey Disease
Increased circulating antibody level ORPHA:1310
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Feeding difficulties... ORPHA:3282
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... ORPHA:507
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Fetal Parvovirus Syndrome
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... ORPHA:295
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
American Trypanosomiasis
Aganglionic megacolon, Edema, Abdominal pain, Periorbital edema, Myocarditis, Congestive heart fa... ORPHA:3386
Cyclic Vomiting Syndrome
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Pallor, Nausea OMIM:500007
Aortic Arch Interruption
Bicuspid aortic valve, Feeding difficulties in infancy, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Vomiting, Pulmonic stenosis, Dehydration ORPHA:79159
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia OMIM:608184
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Lassa Fever
Increased circulating IgM level ORPHA:99824
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Rheumatic Fever
Nausea and vomiting, Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abdomina... ORPHA:3099
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:326
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility, Mitral valve prolapse ORPHA:230839
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged... ORPHA:849
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Pyloric stenosis, Gastr... ORPHA:98892
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Diarrhea, Endocardial fibroelastosis, Restrictiv... OMIM:619313
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... OMIM:615122
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... ORPHA:99828
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... ORPHA:98878
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae ORPHA:231111
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse OMIM:225320
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation OMIM:615476
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... OMIM:301078
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N... OMIM:617303
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level ORPHA:3162
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor, Dysphagia OMIM:613561
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormality of the gastrointestinal tract, Gastropares... ORPHA:85443
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Feeding difficulti... OMIM:618775
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su... ORPHA:169802
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... ORPHA:727
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... OMIM:239850
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... OMIM:177850
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Leukope... ORPHA:2298
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Abnormal heart valve morphology, Abdominal pain, Pericardial effusion, Angio... ORPHA:36412
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Congenital Enterovirus Infection
Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops feta... ORPHA:292
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Agammaglobulinemia, X-Linked
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... OMIM:300755
Roifman Syndrome
Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Feeding difficulties, Reduced ... OMIM:620203
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... ORPHA:297
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100082
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Feeding diffi... OMIM:620070
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Vomiting, Protein-losing enter... ORPHA:79319
Rift Valley Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia ORPHA:319251
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... OMIM:616276
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pa... ORPHA:2847
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100080
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios OMIM:615731
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An... OMIM:223350
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... ORPHA:79078
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... OMIM:615468
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Anorexia ORPHA:79283
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Diarrhea ORPHA:411703
Meckel Syndrome, Type 8
Pericardial effusion, Abdominal distention OMIM:613885
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Polyhydramnios, Patent ductus arteri... OMIM:609942
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Scaling skin, Hypo... ORPHA:79456
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Gaucher Disease Type 1
Anorexia, Abdominal pain, Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gin... ORPHA:77259
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Feeding difficulties OMIM:614249
Noonan Syndrome 11
Feeding difficulties in infancy, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect... OMIM:618499
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana... OMIM:618183
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption ORPHA:79301
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... ORPHA:2248
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Pericardial effusion, Raynaud p... ORPHA:93552
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... ORPHA:35909
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Mungan Syndrome
Tricuspid regurgitation, Intestinal pseudo-obstruction, Gastroparesis, Barrett esophagus, Abdomin... OMIM:611376
Antisynthetase Syndrome
Aortic regurgitation, Telangiectasia of the skin, Edema, Myocarditis, Xerostomia, Lack of skin el... ORPHA:81
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Periorbital edema, Congestive he... ORPHA:33226
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Supravalvular Aortic Stenosis
Pulmonic stenosis, Supravalvular aortic stenosis OMIM:185500
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Dry skin, Feeding difficulties, H... OMIM:619487
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pleural effusion, Mitral regurgi... OMIM:615355
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve OMIM:619825
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal p... ORPHA:329971
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia OMIM:170100
Spontaneous Periodic Hypothermia
Nausea and vomiting, Arrhythmia, Pallor, Diarrhea ORPHA:29822
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia,... ORPHA:100075
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... ORPHA:505248
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Decreased circulating antibody level, Microcytic anemia OMIM:619750
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... ORPHA:99745
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... OMIM:192315
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Abnorm... ORPHA:284169
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Feeding difficulties, Gastroesophageal reflux, Pulmonic stenosis, Atrial s... OMIM:619149
Transaldolase Deficiency
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Atrial s... ORPHA:101028
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Polyhydramnios, Nonimmu... OMIM:265380
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Lymphedema ORPHA:1414
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma OMIM:306900
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Evans Syndrome
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Tetralogy of Fallot, ... OMIM:618624
Non-Functioning Paraganglioma
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pal... ORPHA:94080
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros... ORPHA:809
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Feeding difficulties, Bradycardia, Hypertrophic cardiomyopathy, Poor suck OMIM:616277
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Myoca... ORPHA:3452
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Ventricular septal defect OMIM:614876
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Pallor ORPHA:71518
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Intracranial hemorrhage, Oral cavity ble... ORPHA:324636
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level ORPHA:169105
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Peripheral Cone Dystrophy
Pallor OMIM:609021
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr... ORPHA:274
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... ORPHA:99827
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Stiff Skin Syndrome
Gastroesophageal reflux, Bicuspid aortic valve OMIM:184900
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function OMIM:132900
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrha... ORPHA:464329
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, Rectal prolapse, Adenomatous colo... ORPHA:79076
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting ORPHA:543
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre... OMIM:301080
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Q Fever
Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myocarditis, Vascu... ORPHA:781
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Esophageal... ORPHA:974
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope... ORPHA:1304
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep... OMIM:618652
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Skin ulcer, Gastrointestinal infarctions... ORPHA:91138
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruisi... ORPHA:3226
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:607598
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Malabsorption, Diarrh... ORPHA:98850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor ORPHA:324575
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Gastroesophageal reflux, ... OMIM:617450
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Anemia, Ascites, Thrombocytopenia ORPHA:858
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis, Ascites ORPHA:615
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... ORPHA:2869
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Ext... OMIM:617021
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... OMIM:616433
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl... OMIM:202400
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... ORPHA:99867
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Periorbital edema, Chronic diarrhea, Chronic constip... OMIM:142680
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... OMIM:233600
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level OMIM:613385
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Feeding di... OMIM:212065
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Optic Atrophy 1
Pallor OMIM:165500
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia OMIM:606353
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Intestinal malrotation OMIM:615524
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... OMIM:187900
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... OMIM:601927
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aorti... ORPHA:1120
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... OMIM:123700
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Poor suck, Feeding difficulties OMIM:619717
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Episodic vomiting OMIM:600721
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve OMIM:618955
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level OMIM:226300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Bicuspid pulmonary valve, Mitr... OMIM:609192
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Noonan Syndrome 14
Aortic regurgitation, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... OMIM:619745
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, Ne... ORPHA:449285
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Right ventricul... ORPHA:100078
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... ORPHA:64743
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... ORPHA:144
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... ORPHA:537
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, My... ORPHA:36426
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... ORPHA:85450
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Edema, Anorexia, Abdominal pain, Angioedema, Va... ORPHA:761
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Hydrops Fetalis, Nonimmune
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function ORPHA:306550
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Transient ischemi... ORPHA:774
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Thrombocytopenia, Patent ductus arteriosus, Hydrops fetalis, Ascite... ORPHA:2123
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia OMIM:617341
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Gastroesophageal reflux, Atria... OMIM:249270
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Neoplasm of the colon, Abdominal pain, Malabsor... ORPHA:440437
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... OMIM:600001
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Midgut malrotation, Dilated cardiomyopathy, Heart... ORPHA:2326
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Edema, Abdominal distention, Gastrointestinal dysmotility, Diarrh... ORPHA:90051
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Feeding difficulties, Abnormal cardiac septum morphology, Constipation, Vo... OMIM:615009
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Pericardial effusion, Hematemesis, Diarrhea, Vasculitis, Bloody diarrh... OMIM:615846
Temple-Baraitser Syndrome
Atrial septal defect, Constipation, Gastroesophageal reflux, Pulmonic stenosis OMIM:611816
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Diarrh... ORPHA:79328
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Feeding difficulties, Constipat... OMIM:618027
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myocardial ... ORPHA:117
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal varix, Truncu... OMIM:616589
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... OMIM:620005
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Ascites OMIM:269920
Glycogen Storage Disease Iv
Polyhydramnios, Portal hypertension, Edema, Esophageal varix, Hydrops fetalis, Cardiomyopathy, He... OMIM:232500
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... ORPHA:2255
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... ORPHA:900
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lympho... OMIM:256550
Zygomycosis
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain,... ORPHA:73263
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pulmonic stenosis, Atrial septal... OMIM:615102
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Anorexia, Oral-pharyng... ORPHA:2131
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Dyspha... ORPHA:2070
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Abnormal heart... ORPHA:500159
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... ORPHA:171
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Noonan Syndrome 5
Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy,... OMIM:611553
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated cardiomyopathy, D... ORPHA:20
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis, Feeding difficulties OMIM:619239
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... OMIM:615415
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Decreased circulating IgA level OMIM:613327
Syndromic Diarrhea
Aortic regurgitation, Dependency on intravenous nutrition, Villous atrophy, Ventricular septal de... ORPHA:84064
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Breath-Holding Spells
Pallor OMIM:607578
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... OMIM:615631
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Hypertension, Atrial septal defect OMIM:613870
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Melena, Paralytic ileus, Pro... OMIM:276700
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Feeding difficulties OMIM:620393
Systemic Sclerosis
Intestinal bleeding, Interstitial cardiac fibrosis, Acral ulceration, Gastroesophageal reflux, Ab... ORPHA:90291
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Double outlet right ventricle, He... ORPHA:3426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Squamous Cell Carcinoma Of The Anal Canal
Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intes... ORPHA:424019
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Beta-Ketothiolase Deficiency
Edema, Anorexia, Diarrhea, Dehydration, Hypertension, Vomiting, Pallor, Hypotension ORPHA:134
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Thrombocytopenia, Patent ductus arteriosus, Perimembranous ventricular septa... OMIM:608104
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Edema, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Secretory di... ORPHA:544482
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Gastroesophageal reflux, Constipation, Atrial s... ORPHA:329224
Costello Syndrome
Ventricular septal defect, Redundant skin, Polyhydramnios, Feeding difficulties in infancy, Lack ... ORPHA:3071
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding ORPHA:98870
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Hiatus hernia, Cutis laxa, Hypertension, Ischemic ... OMIM:208050
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Kcnq2-Related Epileptic Encephalopathy
Feeding difficulties, Pallor, Cerebral edema, Facial erythema ORPHA:439218
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Whim Syndrome
Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Gastrointestinal dysmotility, Patent foramen ovale OMIM:619189
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Abdominal pain, Chylopericardium, Chylothorax, Ascites ORPHA:538
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pal... ORPHA:276621
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations ORPHA:86839
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Feeding difficulties, Abnormal cardiac septum morpholog... ORPHA:96147
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Chronic constipation, Gastroesophageal reflux, Hypoplastic left heart, Atr... OMIM:619721
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Hereditary Spherocytosis
Abdominal pain, Abdominal distention, Skin ulcer, Pallor, Restrictive cardiomyopathy ORPHA:822
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Colitis, Vomiting, ... ORPHA:3260
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Bicuspid pulmonary valve, Mitr... OMIM:610168
Scleromyxedema
Paraproteinemia ORPHA:167635
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Mass Syndrome
Mitral valve prolapse OMIM:604308
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt... OMIM:619381
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis OMIM:618780
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Feeding difficulties in infan... ORPHA:477817
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia, Anemia ORPHA:27
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Noonan Syndrome 6
Polyhydramnios, Edema, Feeding difficulties, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:613224
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Feeding dif... ORPHA:1199
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure,... ORPHA:91347
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Dextrotransposition of th... OMIM:618619
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... OMIM:242840
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor ORPHA:75564
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Squalene Synthase Deficiency
Constipation, Dry skin, Bicuspid aortic valve, Gastrostomy tube feeding in infancy OMIM:618156
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... OMIM:616564
Wells Syndrome
Skin vesicle, Vasculitis, Edema ORPHA:901
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Feeding difficulties OMIM:618506
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Intellectual Developmental Disorder, Autosomal Dominant 48
Feeding difficulties in infancy, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Necrotizing Enterocolitis
Shock, Edema, Abdominal distention, Diarrhea, Peritonitis, Abnormal heart morphology, Bloody diar... ORPHA:391673
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... ORPHA:263665
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Trichinellosis
Increased circulating IgE level ORPHA:863
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Palpebral edema, Ventricular septal defect, Patent ductus arteriosus, Tricuspi... ORPHA:261337
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... OMIM:601808
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Chédiak-Higashi Syndrome
Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Gingival bleeding, Decreased liver fun... ORPHA:167
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Atelis Syndrome 1
Atrial septal defect, Dry skin, Ventricular septal defect, Feeding difficulties OMIM:620184
Gitelman Syndrome
Prolonged QT interval, Nausea and vomiting, Abdominal pain, Pericardial effusion, Raynaud phenome... ORPHA:358
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Von Hippel-Lindau Disease
Myocardial infarction, Abdominal pain, Myocarditis, Macular edema, Abnormal left ventricular func... ORPHA:892
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Bruising susceptibility, Redundant skin, Mitral valve prolapse ORPHA:536532
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dominant Beta-Thalassemia
High-output congestive heart failure, Diarrhea, Dilated cardiomyopathy, Skin ulcer, Feeding diffi... ORPHA:231226
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Umbilical hernia, Tricuspid valve prolapse ORPHA:1101
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Abnormal heart morpho... ORPHA:254534
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Peters Plus Syndrome
Intestinal fistula, Polyhydramnios, Feeding difficulties in infancy, Bicuspid pulmonary valve, Ab... ORPHA:709
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defec... OMIM:614114
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... ORPHA:185
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis OMIM:614185
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Solitary Rectal Ulcer Syndrome
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten... ORPHA:209964
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse OMIM:247410
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Th... OMIM:606003
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Increased nuchal translucency, Ventricular septal defect, Feeding diffic... OMIM:617635
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Hypotension, Atrial septal defect, Pate... OMIM:615668
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Spl... ORPHA:3202
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... ORPHA:401935
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Fumarase Deficiency
Necrotizing enterocolitis, Polyhydramnios, Perimembranous ventricular septal defect, Pallor, Hepa... OMIM:606812
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Feeding difficulties, Cutis laxa, Premature skin wrinkling, Dermal transluc... OMIM:616603
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions ORPHA:1059
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... ORPHA:466791
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:284979
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97280
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Alagille Syndrome 2
Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Feeding difficulties in infancy, Ventricular septal defect OMIM:618974
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H... OMIM:618278
Hennekam Syndrome
Lymphedema, Pericardial effusion, Malabsorption, Pyloric stenosis, Hydrops fetalis, Chylothorax, ... ORPHA:2136
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Feeding difficu... ORPHA:2306
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... OMIM:615688
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... ORPHA:227990
Central Core Disease
Mitral valve prolapse ORPHA:597
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Polyhydramnios, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Melnick-Needles Syndrome
Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly ORPHA:3137
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Constipation, Pulmonic stenosis, Feeding difficulties OMIM:614325
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Chronic constipation, Dou... OMIM:616652
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ... OMIM:306955
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... OMIM:157800
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Gastroesopha... OMIM:618494
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... ORPHA:293978
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Vomiting, Pallor, Diarrhea ORPHA:263455
Beta-Thalassemia Major
High-output congestive heart failure, Diarrhea, Dilated cardiomyopathy, Skin ulcer, Feeding diffi... ORPHA:231214
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve, Striae distensae OMIM:617168
Pachydermoperiostosis
Gastrointestinal hemorrhage, Peptic ulcer, Edema, Malabsorption, Joint swelling ORPHA:2796
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... OMIM:139210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pulmonic s... OMIM:607721
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Mitral stenosis, Oligohyd... ORPHA:96201
Methimazole Embryofetopathy
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula, Polyhydramnios ORPHA:1923
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pal... ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Anemia OMIM:618839
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abdominal pain, Diarrhea, Joint swelling, Inflammation of the... ORPHA:29207
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Turnpenny-Fry Syndrome
Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial... OMIM:618371
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Adams-Oliver Syndrome 5
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Pulmonary arterial hypertension, P... OMIM:616028
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Dehydration, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic... OMIM:212140
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Anemia OMIM:618835
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... ORPHA:227982
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... ORPHA:567
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Noonan Syndrome 7
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Impaired oropharyngeal swal... OMIM:613706
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties, Duodenal a... ORPHA:464311
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis, Cutis laxa ORPHA:75496
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Noonan Syndrome 4
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de... OMIM:610733
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Ventricular septal defect, Polyhydramnios, Pulmonic stenos... OMIM:222470
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Mitral valve prolapse ORPHA:1563
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion, Ascites OMIM:235200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Hyper... OMIM:616897
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Intestinal polyposis, Polyhydramnios, Increased nuchal translucency, Colon ... ORPHA:1052
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Chronic diarrhea, Abnormal he... ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Retinitis Pigmentosa 51
Pallor OMIM:613464
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Prune Belly Syndrome
Ventricular septal defect, Intestinal malrotation, Intestinal atresia, Constipation, Atrial septa... ORPHA:2970
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Increased anti-food allergen IgE antibody level ORPHA:411696
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis, Feeding diffic... OMIM:618205
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Intestinal malrotation, Feeding difficulties, Gast... OMIM:609029
Primary Sjögren Syndrome
Normocytic anemia, Decreased circulating antibody level, Complement deficiency, Leukopenia, Normo... ORPHA:289390
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Charge Syndrome
Lymphopenia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal ... OMIM:214800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:603387
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Kagami-Ogata Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Pulmonary art... OMIM:608149
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension OMIM:602531
Cysticercosis
Increased circulating antibody level ORPHA:1560
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Atrial septal ... OMIM:618870
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... OMIM:603903
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea, Pallor ORPHA:56425
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Ascites, Mitral valve prolapse ORPHA:2848
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis ORPHA:1272
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Poor appetite, Vomiting, Pallor, Constipation ORPHA:35858
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... OMIM:605275
Beta-Thalassemia Intermedia
High-output congestive heart failure, Skin ulcer, Pallor, Decreased liver function, Hepatocellula... ORPHA:231222
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Monosomy 13Q34
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium ORPHA:96168
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Enterocolitis, Crohn's disease OMIM:613148
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Naso... ORPHA:453499
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Facial telangiectasia OMIM:620141
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Eryt... ORPHA:913
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios ORPHA:2256
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Feedin... OMIM:614866
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... ORPHA:394
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... OMIM:616860
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Reye syndrome-like episodes, Diarrhea, Vomiting, Pallor ORPHA:348
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Pyloric stenosis, Mitral valve prolapse, Biventric... OMIM:617402
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent... OMIM:164280
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... OMIM:611962
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Frank-Ter Haar Syndrome
Umbilical hernia, Mitral valve prolapse ORPHA:137834
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno... OMIM:619657
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect ORPHA:1166
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Pyloric stenosis, Feeding difficulties, Duodenal... ORPHA:464306
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Bowel incontinence, Pyloric stenosis, Gastroeso... ORPHA:261494
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Redundant neck skin, Ventricular septal de... ORPHA:2519
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cutis laxa ORPHA:276432
8P11.2 Deletion Syndrome
Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral valve prolapse, A... ORPHA:251066
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Dilatation o... ORPHA:90348
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, ... OMIM:301056
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Chronic diarrhea, Aortic regurgitation OMIM:620072
Dravet Syndrome
Pallor ORPHA:33069
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Umbilical hernia, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Protuberant abdomen, Endocardial fibr... OMIM:607014
Skraban-Deardorff Syndrome
Constipation, Ventricular septal defect, Feeding difficulties OMIM:617616
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Gastroesophageal reflux, Bicuspid aortic valve, Chronic constipation OMIM:619720
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Mitral regurgitation, Chylothorax, Aortic valv... OMIM:613563
Emanuel Syndrome
Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Feeding difficulties, Gastroe... ORPHA:96170
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Feeding difficulties OMIM:613839
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenos... OMIM:610443
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Diarrhea, Capillary leak, Int... ORPHA:340
Plummer-Vinson Syndrome
Poor appetite, Abdominal pain, Esophageal web, Pallor, Dysphagia ORPHA:54028
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Feeding difficulties, Perimembranous ve... OMIM:600987
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Syncope, Pallor, Hypotension, Nausea ORPHA:98849
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Mitral valve prolapse, Bruisin... OMIM:614816
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Tetralo... ORPHA:3304
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect OMIM:609460
Marfan Syndrome
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification OMIM:154700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Anorexia OMIM:611590
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Cardiofacioneurodevelopmental Syndrome
Feeding difficulties in infancy, Atrioventricular canal defect, Ventricular septal defect, Pulmon... OMIM:619123
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology, Hematochezia, Oligohydramnios ORPHA:261311
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Feeding difficulties in infancy, Complete... ORPHA:508488
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Koolen-De Vries Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenosis, Abnormal cardiac septum... ORPHA:96169
19P13.3 Microduplication Syndrome
Ventricular septal defect, Constipation, Gastroesophageal reflux, Pulmonary arterial hypertension... ORPHA:447980
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Gastroesophage... OMIM:610759
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Vomiting, Pallor OMIM:246450
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Gastroesophageal reflu... OMIM:618316
Cirrhotic Cardiomyopathy
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Peripheral edema, Left vent... ORPHA:57777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... OMIM:300855
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cerebral edema, Oligohy... OMIM:617713
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Intellectual Developmental Disorder, Autosomal Dominant 43
Chronic constipation, Gastroesophageal reflux, Pulmonic stenosis, Feeding difficulties OMIM:616977
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Erythema, Chronic diarrhea, Hydrops fetalis, Dehydratio... OMIM:557000
Woods Syndrome
Ventricular septal defect OMIM:615236
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Prolonged prothrombin time, Pulmonic stenosis OMIM:614300
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Dysphagia OMIM:619909
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... OMIM:175500
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Bowel incontinence, Pyloric stenosis, Atrial sep... ORPHA:261330
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... OMIM:617660
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Feedi... ORPHA:508498
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolap... OMIM:175050
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect,... OMIM:208085
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Feeding difficulties, Hyper... OMIM:614653
Myelofibrosis
Pallor, Purpura OMIM:254450
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... OMIM:263200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Excessive wrinkled skin,... OMIM:225400
Filippi Syndrome
Ventricular septal defect OMIM:272440
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Dysphagia ORPHA:13
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Joint swelling, Blepharochalasis, Tricuspid valve prolapse, Umbilical hernia ORPHA:287
Plague
Abnormal bleeding, Tachycardia, Edema, Anorexia, Hematemesis, Abdominal pain, Diarrhea, Enterocol... ORPHA:707
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of humo... ORPHA:470
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Feeding difficulties, Gastroesophageal reflux, Atrial s... OMIM:619769
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Feeding difficulties, Gastroesophageal reflux, Constipation, Dysphagia... OMIM:614961
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Thrombocytop... OMIM:608013
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Degcags Syndrome
Tachycardia, Ventricular septal defect, Jejunal atresia, Polyhydramnios, Oral-pharyngeal dysphagi... OMIM:619488
Sheehan Syndrome
Orthostatic hypotension, Poor appetite, Constipation, Palpitations, Bradycardia, Pallor, Dry skin... ORPHA:91355
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Polyhydramnios, Feeding difficulties, Mitral regurgitation, Dysphagia ORPHA:261349
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Diarrhea, Intracranial hemorrhage, Prolong... ORPHA:90062
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart OMIM:618142
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral valve prolapse ORPHA:309155
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Nasogastric... ORPHA:268261
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology, Feeding difficulties, Gastroesophageal refl... ORPHA:494344
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... ORPHA:565
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Feeding difficulties OMIM:614501
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Lymphedema, Abdominal distention,... OMIM:235255
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Recurrent gastroenteritis ORPHA:309288
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:602782
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi... OMIM:613309
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation ORPHA:2143
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption, Ventricular septal defect, Exocrine pancreatic insufficiency ORPHA:452
Geleophysic Dysplasia 1
Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Feeding difficulties OMIM:617201
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Palpebral edema, Cardiomegaly, Congestive heart failure, Heart murmur, Mitr... OMIM:252500
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Pallor, Bruising susceptibility, Abnormal pulmonary valve morpho... ORPHA:667
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Feeding difficulties ORPHA:3306
Burn-Mckeown Syndrome
Atrial septal defect, Feeding difficulties in infancy, Ventricular septal defect OMIM:608572
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... OMIM:617022
Gabriele-De Vries Syndrome
Ebstein anomaly of the tricuspid valve, Patent foramen ovale ORPHA:506358
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Feeding difficulties, Gastroesoph... OMIM:617360
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Ventricular septal defect, Feeding ... ORPHA:79243
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Feeding d... ORPHA:731
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... OMIM:264480
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... ORPHA:3097
Adenohypophysitis
Orthostatic hypotension, Pallor, Poor appetite, Nausea ORPHA:95512
Cohen Syndrome
Leukopenia, Neutropenia, Mitral valve prolapse OMIM:216550
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Mitral valve prolapse OMIM:619087
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
Pituitary Apoplexy
Nausea and vomiting, Hypertension, Pallor, Hypotension ORPHA:95613
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul... ORPHA:99826
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:600901
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Gm1 Gangliosidosis
Ventricular septal defect, Congestive heart failure, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:354
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosi... OMIM:618164
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Non-Functioning Pituitary Adenoma
Nausea and vomiting, Vomiting, Pallor, Hypotension ORPHA:91349
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Feeding difficulties OMIM:618950
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties in infan... OMIM:617506
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Decrease... OMIM:614162
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:290
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Pulmonic stenosis, Atrial sep... OMIM:601186
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... OMIM:615895
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Ventricular septal defect OMIM:218350
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Redundant skin, Lymph... ORPHA:1340
Panhypophysitis
Orthostatic hypotension, Pallor, Poor appetite, Nausea ORPHA:95513
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Adenocar... ORPHA:124
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:227650
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Feeding difficultie... ORPHA:404440
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Abnormal heart morphology, Mitral regurgitation, Pulmo... ORPHA:284984
Scheie Syndrome
Aortic regurgitation ORPHA:93474
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Cor pulmonale, Corneal neovascularization OMIM:158310
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... ORPHA:95430
Absence Of The Pulmonary Artery
Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal heart morphology, Abnormal cardiac ... ORPHA:980
Lissencephaly 9 With Complex Brainstem Malformation
Feeding difficulties, Ventricular septal defect, Dysphagia OMIM:618325
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Telangiectasia, Chronic constipation, Atrial septal defect, Tetralogy ... OMIM:612582
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Heart murmur, Feeding difficulties ORPHA:166035
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Esophagitis, Tetralogy ... OMIM:612562
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia, Inflammation of the large intestine OMIM:106300
Heart And Brain Malformation Syndrome
Gastroesophageal reflux, Ventricular septal defect, Polyhydramnios OMIM:616920
Radio-Tartaglia Syndrome
Ventricular septal defect, Gastroesophageal reflux, Constipation, Dysphagia, Dry skin, Striae dis... OMIM:619312
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistula, Atrial septal defect, P... OMIM:300707
Letterer-Siwe Disease
Stomatitis, Abdominal distention, Pallor OMIM:246400
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Prolactinoma
Nausea and vomiting, Vomiting, Pallor, Hypotension ORPHA:2965
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Lack of skin elasticity, Mitral regurgitatio... OMIM:608328
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Cutis laxa, Atrial septal defect, Lef... OMIM:245600
Legionnaires Disease
Splenomegaly, Lymphopenia, Bone marrow hypocellularity ORPHA:549
Kawasaki Disease
Nausea and vomiting, Pericarditis, Abnormal heart valve morphology, Edema, Abdominal pain, Myocar... ORPHA:2331
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Anemia, Hepatosplenomegaly ORPHA:247598
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Chronic constipation, Ventricular septal defect, Feeding difficulties OMIM:617452
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:355
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Kapur-Toriello Syndrome
Constipation, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... ORPHA:3474
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Patent ductus arteriosus, Mitral valve prolapse OMIM:104350
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Constipation, Gastroesophageal reflux, Atrial septal defect, Pulmonary... OMIM:616449
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Ventricular septal defect, Anemic pallor OMIM:227645
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, A... OMIM:301030
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Beck-Fahrner Syndrome
Feeding difficulties in infancy, Ventricular septal defect, Cardiomegaly OMIM:618798
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Ventricular septal defect OMIM:615630
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Dy... ORPHA:261250
Cerebrofacioarticular Syndrome
Lymphedema, Feeding difficulties in infancy, Abnormal heart morphology, Pulmonic stenosis, Gastro... ORPHA:314679
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Retinitis Pigmentosa 75
Pallor OMIM:617023
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Feeding difficulties OMIM:615583
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Leukocytosis, Mitral valve prolapse, Pleural effusion, Right atrial enlargement OMIM:620233
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Fontaine Progeroid Syndrome
Atrial septal defect, Dermal translucency, Tricuspid regurgitation, Bicuspid aortic valve, Redund... OMIM:612289
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte... OMIM:270100
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Mitral valve prolapse OMIM:130000
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios OMIM:219730
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Chronic constipation, Ventricular septal defect, Feeding difficulties ORPHA:505237
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Feeding difficulties OMIM:617516
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Gastrostomy tube feeding in infancy, Pulmonic stenosis, Feeding di... OMIM:615802
Trisomy 13
Atrial septal defect, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenosis, Ulcerative colitis, Gas... OMIM:617137
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Intestinal malrotation, Feeding difficulties, Gastroesophageal reflux,... ORPHA:457193
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Umb... ORPHA:96191
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abdominal distention, Diarrhea, Neoplasm of the liver, Constipation, Pallo... ORPHA:653
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:130720
Trisomy 1Q
Increased nuchal translucency, Ventricular septal defect, Hydrops fetalis, Polyhydramnios ORPHA:261344
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abdominal distention, Protein-los... ORPHA:1655
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Feeding difficulties in infancy, Atrial septal defect... ORPHA:2008
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Gastroparesis, Intestinal pseudo-obstruction, F... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Gastroparesis, Intestinal pseudo-obstruction, F... ORPHA:352665
Watson Syndrome
Pulmonic stenosis OMIM:193520
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Intesti... ORPHA:99776
19Q13.11 Microdeletion Syndrome
Dry skin, Ventricular septal defect, Feeding difficulties ORPHA:217346
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Kury-Isidor Syndrome
Ventricular septal defect, Feeding difficulties OMIM:619762
Tay-Sachs Disease
Pallor OMIM:272800
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Dry skin, Chronic constipation, Pulmona... ORPHA:163956
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Feeding difficulties, Chronic constipation, Dysphagia, Atrial septal d... OMIM:617061
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... OMIM:613471
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Nasogastric tube feeding ORPHA:3078
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Feeding difficulties in infancy, Chronic diarrhe... OMIM:617140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Carpenter Syndrome 1
Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ... OMIM:201000
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, N... ORPHA:424016
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... ORPHA:97360
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Bohring-Opitz Syndrome
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Cutis laxa, Feeding difficulti... OMIM:605039
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... OMIM:612474
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, Abdomina... OMIM:619475
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1926
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Feeding difficulties, Hypertension, ... OMIM:220111
Blue Rubber Bleb Nevus
Intestinal bleeding, Rectal prolapse, Volvulus, Intussusception OMIM:112200
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Bruising susceptibility, Pulmonic stenosis, Dermal translucency OMIM:618343
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Polyhydramnios OMIM:616777
Hardikar Syndrome
Ventricular septal defect, Intestinal malrotation, Portal hypertension, Abdominal pain, Hematemes... OMIM:301068
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Alagille Syndrome
Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect ORPHA:52
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Short Stature-Micrognathia Syndrome
Gastroesophageal reflux, Ventricular septal defect, Feeding difficulties OMIM:617164
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Joint swelling ORPHA:465508
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Senior-Loken Syndrome 8
Pallor OMIM:616307
Fanconi Anemia, Complementation Group D2
Anemic pallor, Esophageal atresia, Tracheoesophageal fistula, Abnormal heart morphology, Bruising... OMIM:227646
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Constipation, Dysphagia,... OMIM:619229
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Feeding difficulties, Patent foramen ovale, Oligohydramnios OMIM:620113
Vipoma
Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr... ORPHA:97282
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Childhood Absence Epilepsy
Pallor ORPHA:64280
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Cardiomegaly OMIM:105210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Intestinal malr... ORPHA:353281
Codas Syndrome
Ventricular septal defect ORPHA:1458
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Pulmonic stenosis, Lymphedema OMIM:616737
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Ehlers-Danlos Syndrome, Classic-Like, 2
Umbilical hernia, Mitral valve prolapse OMIM:618000
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Oligohydramnios, Cardiomegaly ORPHA:158687
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula ORPHA:77298
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea OMIM:229600
Kabuki Syndrome 2
Atrial septal defect, Feeding difficulties in infancy, Atrioventricular canal defect, Pulmonic st... OMIM:300867
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Feeding difficulties in infancy, Esophageal atresia, Ventricular septal defect OMIM:610536
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Atelis Syndrome 2
Vitreous hemorrhage, Gastroesophageal reflux, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Spondyloocular Syndrome
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Elliptocytosis 1
Pallor OMIM:611804
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Intestinal obstruction, Cerebral hemorrhag... ORPHA:666
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, Re... ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Gastroesophageal refl... OMIM:300998
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Feeding difficulties OMIM:620073
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time OMIM:214950
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Kapur-Toriello Syndrome
Atrial septal defect, Constipation, Ventricular septal defect, Intestinal malrotation OMIM:244300
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Eos... OMIM:613795
Williams-Beuren Syndrome
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Feedi... OMIM:194050
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Loeys-Dietz Syndrome 5
Ventricular septal defect, Eosinophilic infiltration of the esophagus, Hiatus hernia, Mitral regu... OMIM:615582
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hydrops fetalis, Atri... OMIM:263520
Char Syndrome
Ventricular septal defect ORPHA:46627
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Tracheoeso... ORPHA:141127
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Hypoplastic left heart,... ORPHA:2209
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Feeding difficulties, Gastroesophageal re... OMIM:606232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation OMIM:271640
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Abdominal pain OMIM:300908
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Pulmonic sten... OMIM:115150
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Edema, Protuberant abdomen, Ne... OMIM:269860
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Feeding difficulties, Gastroesopha... OMIM:117550
Fg Syndrome Type 1
Atrial septal defect, Umbilical hernia, Mitral valve prolapse ORPHA:93932
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Nasogastric tube f... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Nasogastric tube f... ORPHA:363958
Brittle Cornea Syndrome
Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis ORPHA:100079
Pentalogy Of Cantrell
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho... ORPHA:1335
Marfanoid-Progeroid-Lipodystrophy Syndrome
Oligohydramnios, Mitral valve prolapse OMIM:616914
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... ORPHA:1507
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Abdominal distention, Gastroin... ORPHA:436252
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mosaic Variegated Aneuploidy Syndrome 1
Feeding difficulties in infancy, Oligohydramnios, Pulmonic stenosis, Atrial septal defect, Duoden... OMIM:257300
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Colonic atresia, Atr... OMIM:309801
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Chronic constipation, Ventricular septal defect, Feeding difficulties OMIM:619575
Noonan Syndrome 1
Abnormal bleeding, Ventricular septal defect, Lymphedema, Feeding difficulties in infancy, Chylot... OMIM:163950
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Hepatosplenom... ORPHA:217085
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Zellweger Syndrome
Ventricular septal defect, Malabsorption, Feeding difficulties in infancy, Pyloric stenosis, Hepa... ORPHA:912
Fanconi Anemia, Complementation Group B
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Cohen Syndrome
Neutropenia, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Hepatosplenom... ORPHA:217093
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Encopresis... OMIM:616682
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Feeding difficulties in infancy, Episodic vomit... OMIM:618748
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... ORPHA:1780
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Feeding difficulties... ORPHA:438213
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353277
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Polyhydramnios OMIM:615503
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Intestinal malrotation OMIM:300963
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
16P13.11 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Feeding difficulties ORPHA:261236
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Abdominal pain, Ery... ORPHA:2092
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Oligohydramnios OMIM:611812
Intellectual Developmental Disorder, Autosomal Dominant 53
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Codas Syndrome
Ventricular septal defect, Polyhydramnios, Gastroesophageal reflux, Rectovaginal fistula, Atrial ... OMIM:600373
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure OMIM:613812
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Ulnar-Mammary Syndrome
Pyloric stenosis, Arrhythmia, Ventricular septal defect ORPHA:3138
Chops Syndrome
Ventricular septal defect, Gastroparesis, Anomalous pulmonary venous return, Gastroesophageal ref... OMIM:616368
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:145420
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Phaver Syndrome
Ventricular septal defect ORPHA:2876
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Chronic constipation, Ventricular septal defect, Intestinal malrotation OMIM:617602
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Feeding difficulties, Pulmonic stenosis, Atrial septal... OMIM:614609
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Redundant skin ORPHA:96167
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Increased nuchal translucency, Feeding difficulties, Gastroesophageal ... ORPHA:79345
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Pleural effusion, Cardiomegaly OMIM:232300
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Feeding difficulties, Intracrani... ORPHA:79318
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation, Recurrent gastroenteritis ORPHA:309282
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dermal translucency, Intestinal bleeding, Gastrointestinal telangiectasia, Retinal telangiectasia OMIM:612199
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Feeding difficulties, Coronary artery fistula, Neonatal death, Atrial ... OMIM:620024
Toriello-Carey Syndrome
Aganglionic megacolon, Feeding difficulties in infancy, Cardiomyopathy, Abnormal cardiac septum m... ORPHA:3338
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:488632
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Intestinal malrotation, Abnormal left ventricle m... ORPHA:2729
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Chronic constipation, Ventricular septal defect OMIM:300472
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Cardiomegaly ORPHA:79280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Oligohydramnios OMIM:608836
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Vomiting, Protein-losing ent... OMIM:619991
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nasogastric tube feeding in infancy, Ventricular septal defect OMIM:106260
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Pyloric stenosis, Pulmonic stenosis OMIM:619148
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Mitral regurgitation, Pulmonic stenosis, Pulmonar... OMIM:612541
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardiu... ORPHA:228308
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Gastrointestinal dysmotility, Feeding diffic... ORPHA:506
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pyloric stenosis, Mitral valve pr... OMIM:218040
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Ventricular septal defect, Tricuspid regurgitation, Hypoplastic right heart OMIM:616894
C Syndrome
Ventricular septal defect, Cutis laxa OMIM:211750
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Dry skin, Ventricular septal defect ORPHA:769
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Duodenal stenosis... OMIM:617063
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bicuspid aortic valve, Myocardial infarction, Redundant skin in infancy, Parti... OMIM:150230
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... OMIM:617718
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin, Ventricular septal defect OMIM:619306
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation OMIM:222448
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Nasogastric tube feeding in... ORPHA:1708
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Constipation, Ventricular septal defect ORPHA:464738
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary arterial hypertension, Ventricular septal defect, Polyhydramnios, Aortopulmonary window OMIM:620025
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Ventricular septal defect, Hydrops fetalis ORPHA:268249
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... ORPHA:881
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr... ORPHA:652
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Heart murmur ORPHA:163979
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis OMIM:617260
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Shprintzen-Goldberg Syndrome
Umbilical hernia, Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... ORPHA:480520
Opitz Gbbb Syndrome
Rectourethral fistula, Gastroesophageal reflux, Ventricular septal defect, Dysphagia OMIM:300000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis OMIM:618223
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Polyhydramnios, Chronic diarrhea, Feeding difficulties, Gastroesophage... OMIM:618268
Orofaciodigital Syndrome V
Aganglionic megacolon, Tetralogy of Fallot, Ventricular septal defect, Feeding difficulties OMIM:174300
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Mitral valve prolapse ORPHA:730
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Umbilical hernia, Mitral valve prolapse ORPHA:1900
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ventricular septal defect, Hypoplastic left heart, Atrial septal defect, T... ORPHA:2473
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Perimembranous ventricular septal defect, Gastroesophageal reflux, Con... OMIM:301040
Mosaic Trisomy 1
Increased nuchal translucency, Ventricular septal defect, Polyhydramnios ORPHA:1692
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve ORPHA:1772
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
De Barsy Syndrome
Excessive wrinkled skin, Ventricular septal defect, Cutis laxa, Dermal translucency ORPHA:2962
Peroxisome Biogenesis Disorder 1A (Zellweger)
Feeding difficulties, Redundant neck skin, Ventricular septal defect, Dysphagia OMIM:214100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:142900
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Skin ulcer, Aortic valve sten... ORPHA:955
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Feeding difficulties OMIM:250410
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Shprintzen-Goldberg Craniosynostosis Syndrome
Umbilical hernia, Mitral valve prolapse OMIM:182212
Chromosome 14Q11-Q22 Deletion Syndrome
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Feeding difficulties OMIM:613457
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Lymphedema, Cutis laxa, Pulmonic stenosis, Atrial septal defect,... ORPHA:536471
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Umbilical hernia, Cardiomegaly OMIM:618143
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Feeding difficulties in infancy, ... ORPHA:2162
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Feeding difficu... OMIM:618454
Fryns Syndrome
Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Intestinal malrotation, Esophag... OMIM:229850
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Pyloric stenosis, I... ORPHA:3472
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Ventricular septal defect ORPHA:251028
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Constipation,... OMIM:244450
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Feeding difficulties, Pulmonic stenosis, Premature ski... ORPHA:3455
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Hypoplastic left heart, Gastroesophageal reflux, Double outlet right v... OMIM:301043
Jacobsen Syndrome
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Pyloric steno... ORPHA:2308
Fucosidosis
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:230000
Trichothiodystrophy
Cardiomyopathy, Dry skin, Ventricular septal defect ORPHA:33364
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Diets-Jongmans Syndrome
Feeding difficulties in infancy, Ventricular septal defect, Polyhydramnios, Duodenal atresia OMIM:618846
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Gastroesophageal reflux, Atria... OMIM:300373
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect ORPHA:2710
Trisomy 18
Atrial septal defect, Esophageal atresia, Ventricular septal defect, Oligohydramnios ORPHA:3380
Cranioectodermal Dysplasia 1
Hepatic failure, Bicuspid aortic valve, Protuberant abdomen OMIM:218330
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia ORPHA:14
7Q11.23 Microduplication Syndrome
Atrial septal defect, Chronic constipation, Aortic valve stenosis, Ventricular septal defect ORPHA:96121
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cervical myelopathy, Umbilical hernia, Mitral stenosis OMIM:253200
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis, Feeding difficulties ORPHA:529962
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Facial erythema, Scaling skin, Portal hypertension, Ischemic stroke, Transposition... OMIM:619503
Marshall-Smith Syndrome
Ventricular septal defect, Pyloric stenosis, Premature ventricular contraction, Feeding difficult... OMIM:602535
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Gastroesophageal ... ORPHA:444077
Opitz Gbbb Syndrome
Ventricular septal defect, Feeding difficulties in infancy, Tracheoesophageal fistula, Abnormal h... ORPHA:2745
Rubinstein-Taybi Syndrome 1
Accessory spleen, Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arterios... OMIM:180849
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... OMIM:300166
Legius Syndrome
Desmoid tumors, Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Umbilical hernia, Abnormal aortic valve morphology, Abn... ORPHA:581
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Oligohydramnios, Mitral valve prolapse ORPHA:536467
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Dry skin, Feeding difficulties, Hy... OMIM:210710
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Arboleda-Tham Syndrome
Ventricular septal defect, Intestinal malrotation, Secundum atrial septal defect, Upper eyelid ed... OMIM:616268
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Duane-Radial Ray Syndrome
Atrial septal defect, Aganglionic megacolon, Ventricular septal defect OMIM:607323
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... OMIM:619268
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Abnormal anato... ORPHA:2461
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Conjunctival telangiectasia OMIM:257920
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Colon can... ORPHA:261584
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Polyhydramnios, Feeding difficulties, Atrial septal defect, Atrioventr... ORPHA:3047
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Abnormal heart morphology, Feeding difficulties, Atria... ORPHA:1465
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Dry skin, Transposition of the great arteries, Subvalvular aortic sten... OMIM:280000
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Mitral valve prolapse ORPHA:369950
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastr... OMIM:270400
Apert Syndrome
Esophageal atresia, Overriding aorta, Ventricular septal defect, Pyloric stenosis OMIM:101200
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Femoral-Facial Syndrome
Gastroesophageal reflux, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Feeding difficulties in infancy... ORPHA:818
Phace Association
Ventricular septal defect OMIM:606519
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Ventricular septal defect, Vomiting, Tube feeding OMIM:619418
Jacobsen Syndrome
Atrial septal defect, Pyloric stenosis, Ventricular septal defect OMIM:147791
Cornelia De Lange Syndrome 1
Ventricular septal defect, Hiatus hernia, Malrotation of colon, Pyloric stenosis, Gastroesophagea... OMIM:122470
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Mitral valve prolapse, Enlarged kidney, Abnormal heart morphology OMIM:615873
Meester-Loeys Syndrome
Umbilical hernia, Mitral valve prolapse OMIM:300989
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Cerebrocostomandibular Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Polyhydramnios OMIM:117650
Cerebrocostomandibular Syndrome
Ventricular septal defect, Feeding difficulties ORPHA:1393
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Feeding difficulties, Gastroesophageal reflux, Patent foramen ovale, D... OMIM:616975
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Cutis laxa, Feedi... ORPHA:96334
Pallister-Hall Syndrome
Neonatal death, Ventricular septal defect OMIM:146510
Penile Agenesis
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Atrial s... ORPHA:49
Mowat-Wilson Syndrome
Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Abnorma... OMIM:235730
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect OMIM:300712
Neu-Laxova Syndrome 1
Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Neona... OMIM:256520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios OMIM:608670
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Gastroesophageal... ORPHA:459070
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Ventricular septal defect OMIM:600460
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Aganglioni... ORPHA:261552
Beckwith-Wiedemann Syndrome
Hepatomegaly, Polyhydramnios, Cardiomegaly, Splenomegaly, Large placenta, Umbilical hernia, Hyper... ORPHA:116
Mowat-Wilson Syndrome
Dependency on intravenous nutrition, Bicuspid aortic valve, Aganglionic megacolon, Bowel incontin... ORPHA:2152
Limb Body Wall Complex
Ventricular septal defect, Abnormal heart morphology, Abnormal intestine morphology, Atrial septa... ORPHA:2369
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacolon, Bowel incontin... ORPHA:261537
Microphthalmia, Syndromic 3
Esophageal atresia, Ventricular septal defect OMIM:206900
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Johanson-Blizzard Syndrome
Colonic diverticula, Ventricular septal defect, Portal hypertension, Malabsorption, Situs inversu... OMIM:243800
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Hepatoblastoma, Cardiomyopathy... OMIM:312870
Alagille Syndrome 1
Ventricular septal defect, Hepatic failure, Hepatocellular carcinoma, Atrial septal defect, Tetra... OMIM:118450
Larsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:150250
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... OMIM:182250
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation OMIM:102500
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:236680
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation... ORPHA:513456
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Gastroesophageal reflux, Partial anomalous pulmonary venous return, Ventric... OMIM:301044
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Prolonged prothrombin time, Gastroesophageal reflux, Bleeding with min... OMIM:619525
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Gastrointestinal stroma tumor, Renovascular hypertension, Abnormal he... ORPHA:97685
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot, Poo... OMIM:309500
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Ulnar-Mammary Syndrome
Pyloric stenosis, Arrhythmia, Ventricular septal defect OMIM:181450
Atypical Werner Syndrome
Aortic valve calcification, Aortic valve stenosis, Mitral valve prolapse ORPHA:79474
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Genitopatellar Syndrome
Ventricular septal defect, Polyhydramnios, Malrotation of small bowel, Feeding difficulties, Dysp... OMIM:606170
Cornelia De Lange Syndrome
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Pyloric steno... ORPHA:199
Omodysplasia 1
Atrial septal defect, Ventricular septal defect OMIM:258315
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pyloric stenosis, Hydrops fetalis... OMIM:216340
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Vater/Vacterl Association
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Transposition of the gr... OMIM:192350
Peters-Plus Syndrome
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Pulmonic stenosis, At... OMIM:261540
Stickler Syndrome
Mitral valve prolapse ORPHA:828
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Mitral valve prolapse OMIM:130050
Coffin-Siris Syndrome 1
Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, Feeding difficulties in infanc... OMIM:135900
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Kabuki Syndrome 1
Ventricular septal defect, Intestinal malrotation, Malabsorption, Feeding difficulties in infancy... OMIM:147920
Townes-Brocks Syndrome 1
Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Gastroesophageal ref... OMIM:107480
Wolf-Hirschhorn Syndrome
Atrial septal defect, Gastroesophageal reflux, Malrotation of small bowel, Ventricular septal defect OMIM:194190
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Gastrostomy tube feeding in infancy ORPHA:434179
Sotos Syndrome
Aganglionic megacolon, Ventricular septal defect, Pedal edema, Abnormal heart morphology, Feeding... ORPHA:821
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Feeding difficulties, Ventricular septal defect, Dysphagia OMIM:619522
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Constipation, Ventricular septal defect OMIM:620330
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect OMIM:615948
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Oligohydramnios ORPHA:672
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, F... OMIM:601803
Microphthalmia, Syndromic 1
Aganglionic megacolon, Pyloric stenosis, Rectal prolapse, Bicuspid aortic valve OMIM:309800
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:268300
Vascular Ehlers-Danlos Syndrome
Umbilical hernia, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:286
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nfatc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nfatc1.

No publications found that use IMPC mice or data for Nfatc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nfatc1em1(IMPC)Bay Point Mutation Mice
Nfatc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nfatc1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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