Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Nfatc1em1(IMPC)Bay HET Early adult 9.24×10-05
decreased locomotor activity Nfatc1em1(IMPC)Bay HET Early adult 5.83×10-06
abnormal behavior Nfatc1em1(IMPC)Bay HET Early adult 8.52×10-05
abnormal locomotor behavior Nfatc1em1(IMPC)Bay HET Early adult 7.01×10-09
preweaning lethality, complete penetrance Nfatc1em1(IMPC)Bay HOM   Early adult 0.00

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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
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:619281
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Increased circulating IgM level, Splenomegaly, Decreased circulating antibody ... ORPHA:397596
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effu... ORPHA:2414
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level ORPHA:100024
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
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 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In... OMIM:617388
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pleural eff... OMIM:602248
Myeloma, Multiple
Paraproteinemia OMIM:254500
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Intestinal pseudo-obstruction, Ventricular escape rhythm, Mitral regurgitation, B... OMIM:616201
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Primary Effusion Lymphoma
Pericardial effusion, Abdominal pain, Pleural effusion, Abdominal distention ORPHA:48686
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu... OMIM:615934
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na... OMIM:619802
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycar... ORPHA:49827
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef... OMIM:620067
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... OMIM:614702
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Pallor, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt... OMIM:620565
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... ORPHA:90308
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Thro... OMIM:613101
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level ORPHA:90280
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Reticular Dysgenesis
Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils ORPHA:33355
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, In... OMIM:260920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Diamond-Blackfan Anemia 16
Anemia, Atrial septal defect, Pulmonic stenosis OMIM:617408
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Caffey Disease
Increased circulating antibody level ORPHA:1310
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased... ORPHA:29073
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... ORPHA:99095
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
American Trypanosomiasis
Periorbital edema, Diarrhea, Cardiomyopathy, Congestive heart failure, Pallor, Aganglionic megaco... ORPHA:3386
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... OMIM:261740
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal tricuspid valve morphology, Ventricular septal defect, Anemia, Hydrops f... ORPHA:3405
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Decreased circulating antibody level OMIM:300635
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Cyclic Vomiting Syndrome
Vomiting, Cardiomyopathy, Pallor, Nausea, Gastrointestinal dysmotility, Anorexia, Abdominal pain OMIM:500007
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Single ventric... ORPHA:2299
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Fetal Parvovirus Syndrome
Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thrombocytopenia, Anemia, Hy... ORPHA:295
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Lassa Fever
Increased circulating IgM level ORPHA:99824
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormality of humoral immunity, Abnor... ORPHA:572
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:1909
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Nausea and vomiting, Pallor, Abnormal mitra... ORPHA:3099
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Mitral valve prolapse, Arrhythmia ORPHA:230839
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dilated cardiomyopathy, Dehydration, Pulmonic stenosis ORPHA:79159
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Diarrhea, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Peri... OMIM:619313
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... ORPHA:436159
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Periphera... ORPHA:2494
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Periventricular Nodular Heterotopia
Aortic regurgitation, Gastroesophageal reflux, Abnormal bleeding, Abnormal heart valve morphology... ORPHA:98892
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Bruising suscep... ORPHA:99828
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... ORPHA:98878
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Abnormal pericardium morphology, Gast... ORPHA:679
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia, Feeding difficulties ORPHA:276556
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620135
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Petechiae, Pericarditis ORPHA:231111
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Tularemia
Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto... ORPHA:3392
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Oligohydramnios, Polyhydramnios, Atrial septal defect OMIM:615476
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Bruising susceptibility, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Inc... OMIM:617303
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Dysphagia, Pallor OMIM:613561
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia, Feeding difficulties ORPHA:276575
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Feeding dif... OMIM:618775
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Nausea and vomi... ORPHA:36412
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Xerostomia, Postural hypotens... ORPHA:85443
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... OMIM:614700
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia, Feeding difficulties ORPHA:276580
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Erythema, Skin ulcer, Congestive he... ORPHA:727
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Cardiomegaly, Bicuspid aortic valve, Perica... OMIM:239850
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal... OMIM:177850
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le... ORPHA:2298
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto... OMIM:615010
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Vomiting, Patent foramen ovale, Ventricular septa... ORPHA:26793
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Mitral regurgitation, Patent foramen ovale, Bicuspid... OMIM:614823
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Striae distensa... ORPHA:758
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... OMIM:601495
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level ORPHA:319218
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Hepatic failure, Abnormal bleeding, Cardiomyopathy, Pleural effusion,... ORPHA:292
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, L... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, L... ORPHA:100082
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary valve, Patent ductus arte... OMIM:612863
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Lack of bowel sounds, Right ventricular fa... ORPHA:100080
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Gastroesophageal reflux, Multiple muscular ventricular septal defects, Polyhydramnios, Atrial sep... OMIM:620070
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero... ORPHA:540
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma ORPHA:562639
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func... ORPHA:79319
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Episodic abdominal pain, Hamartomatous p... ORPHA:251992
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp... OMIM:616276
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Cardiomyopathy, Bundle branch bloc... ORPHA:93672
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Diarrhea, Pleural effusion ORPHA:411703
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect OMIM:615731
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... ORPHA:444463
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci... ORPHA:79078
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil... OMIM:615952
Meckel Syndrome, Type 8
Pericardial effusion, Abdominal distention OMIM:613885
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Anorexia ORPHA:79283
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Lymphedema, Acute myeloid leukemia, An... OMIM:223350
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency 12
Abnormal lymphocyte count, Complete or near-complete absence of specific antibody response to tet... OMIM:615468
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia OMIM:617591
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Anasarca, Ascites, Pleural effusion... OMIM:618183
Primary Biliary Cholangitis
Increased circulating IgA level, Splenomegaly, Increased circulating IgM level ORPHA:186
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Scaling skin, Abdomin... ORPHA:79456
Prolidase Deficiency