Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
c-abl oncogene 1, non-receptor tyrosine kinase
Synonyms:
c-Abl,  E430008G22Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Abl1 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.

The table below shows human diseases associated to Abl1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Abl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent otitis media, Recurrent upper respiratory... OMIM:619238
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, Failure to thrive... OMIM:608971
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Hypoplasia of the thymus, Leukopenia, Lymphopenia OMIM:267500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Immunodeficiency 76
Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, S... OMIM:619164
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Tuftsin Deficiency
Recurrent infections, Abnormality of the spleen OMIM:191150
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Immunodeficiency 52
Death in childhood, Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronc... OMIM:617514
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Impaired lymphocyte transformation with phytohemagglutinin, B l... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ... OMIM:269840
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, BCGosis, Hypoplasia of the thymus, Splenomegaly, Recurren... OMIM:616622
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ... ORPHA:424019
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, G... OMIM:615401
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gall... ORPHA:2869
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level, Failure to thrive in inf... OMIM:618987
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent respiratory infec... OMIM:300853
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio... OMIM:615518
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
Immunodeficiency 105
Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l... OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Recurrent pneumo... ORPHA:277
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy, Weight loss ORPHA:52416
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammation of the... OMIM:618108
Solitary Rectal Ulcer Syndrome
Rectal prolapse, Anemia, Anal fissure, Decreased body weight, Hematochezia, Stercoral ulcer ORPHA:209964
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Abnormal T cell co... OMIM:613493
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent lower respiratory tract infections,... OMIM:613501
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Esophageal varix, Splenomega... ORPHA:75233
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Microcephaly, Recurrent viral infections, Thrombocy... ORPHA:169079
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytope... OMIM:242700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope... OMIM:601457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent respiratory infec... OMIM:618986
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Abnorma... OMIM:112200
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Recurrent infections, Herpes simplex encephalitis, Incre... OMIM:618982
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Immunodeficiency 9
BCGitis, Abnormal natural killer cell count, Recurrent infections, Hypoplasia of the thymus, Fail... OMIM:612782
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, B lymphocytopenia, Recurrent pne... OMIM:150550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to... OMIM:602450
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy,... ORPHA:83469
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Rectal prolapse, Meconium ileus, Biliary cirr... OMIM:219700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Death in infa... OMIM:243150
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent bacterial infections, Recurrent ... OMIM:240500
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Immunodeficiency 40
Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Macrovesicular hepatic steatosi... OMIM:616433
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent Staphylococcus aureus infections, T lymphocytopenia, Opportunistic infection, Aplasia o... ORPHA:83471
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Recurrent infections, Splenomegaly OMIM:606445
Immunodeficiency 102
Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropeni... OMIM:301082
Immunodeficiency 50
Eczematoid dermatitis, Neutropenia, Recurrent respiratory infections, Lymphopenia OMIM:300988
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Skin rash, Dysphagia, Recurrent cutaneous abscess formation, Gastric ulcer, Incre... OMIM:147060
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Mirage Syndrome
Sepsis, Anemia, Recurrent urinary tract infections, Adrenal hypoplasia, Decreased body weight, Hy... OMIM:617053
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the spleen, In... ORPHA:93941
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Recurrent bacterial skin infections, Atopic dermatitis, ... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Decreased proportion of CD8-positive T cells, Lymp... ORPHA:169154
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Persistent EBV viremia, Recurrent sin... OMIM:620282
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Recurrent respiratory infections, T lymphocytopenia, Eczematoid dermatitis, Fail... OMIM:619510
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory in... OMIM:613500
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Recurrent si... OMIM:619846
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, Failure to thrive... ORPHA:77297
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Failure to thrive, Neutrophilia, ... OMIM:226990
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Persistent CM... OMIM:618495
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Abnormal T cell count, Recurrent bacterial infections OMIM:613494
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Hypertrophic cardiomyopathy, Death in infancy OMIM:617184
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Caspase 8 Deficiency
Lymphadenopathy, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary ... OMIM:607271
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Microcephaly, Leukopenia, Splenomegaly, Lymphopenia, Neutropen... OMIM:612541
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp... ORPHA:276
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R... OMIM:619220
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Immunodeficiency, Common Variable, 11
Failure to thrive, Recurrent respiratory infections, Abnormal T cell count, Decreased proportion ... OMIM:615767
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v... OMIM:620203
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk... ORPHA:824
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Cachexia, Furrowed tongue, Hamartomat... ORPHA:2930
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Failure to thrive, Colon cancer, Hematochezia, ... OMIM:174900
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Microcephaly, Epicanthu... OMIM:616910
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Increased inflam... OMIM:209950
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, Recurrent infections, B lymphocytopenia, Increased proportion of effector m... OMIM:619824
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Recurrent aspiration pneumonia, Dysphagia, Weight loss ORPHA:930
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Severe Epstein Barr virus infection, Hemophagocytosis, Lymphadenop... OMIM:308240
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertro... ORPHA:75249
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir... ORPHA:64743
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Cachexia, Abnormal intestine morphology,... ORPHA:37042
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Hepatomegaly, Pr... ORPHA:57777
Ataxia-Telangiectasia
Delayed puberty, Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia o... OMIM:208900
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Recu... OMIM:612692
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emph... OMIM:613490
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Primary microcephaly ORPHA:89844
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Severe varicella zoster infection, Hepatosplenomegaly, Red... OMIM:618261
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno... ORPHA:911
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis ORPHA:401911
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Recurrent otitis media, Impaired lymphocyte transformation with phytohema... OMIM:600802
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti... OMIM:612260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, R... OMIM:620632
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in childhood, Pulmonary arterial hypertension, Death in infancy, Cardiomegaly OMIM:619064
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr... OMIM:175200
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Recurrent infections... OMIM:614470
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Delayed puberty, Recurrent infections, Progressive microcephaly, Decreased body weight, Decreased... ORPHA:477814
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Recurrent infections, Failure to thrive, Thrombocytopenia, Splenomegaly, Le... OMIM:615285
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Recurren... OMIM:615559
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit... OMIM:614700
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Elevated circ... ORPHA:1572
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Abnormality of the gastrointestinal tract, Elevated circulating hepatic transaminase c... ORPHA:298
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymu... OMIM:214110
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Slender build, Weight loss, Gastrointestinal dysmotility OMIM:613662
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Cataract ORPHA:79238
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Inappropriate antidiuretic hormone secretion, T lymphocytopenia, Mic... ORPHA:79124
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Intestinal malrotation, ... ORPHA:3032
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Intestinal perforation, Leukocytosis, Reticulocytos... ORPHA:90038
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Decreased proporti... ORPHA:169160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Lymphadenopathy, Recurrent respiratory inf... OMIM:606367
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Reticular Dysgenesis
Chronic otitis media, Anemia, Skin rash, Failure to thrive, Leukopenia, Weight loss, Aplasia/Hypo... ORPHA:33355
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ... OMIM:619281
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Death in childhood, Atelectasis, Emphysema, Gastroesophageal reflux, Accessory s... OMIM:613177
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... ORPHA:436159
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Weight loss, Infec... ORPHA:42642
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Immunodeficiency 70
B lymphocytopenia, Furuncle, Recurrent sinusitis, Decreased proportion of CD4-positive helper T c... OMIM:618969
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n... ORPHA:79076
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Neutrop... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Failure to thrive, Recurrent viral infections, Thrombocytopen... OMIM:618048
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, T lymphocytopenia, Neutropeni... ORPHA:572
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Short palpebral fissure, Recurrent infections, Epicanthus, Thin eyebrow, Abnormally low T cell re... OMIM:618092
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Hepatospl... OMIM:619802
Cystic Fibrosis
Pneumothorax, Cirrhosis, Steatorrhea, Elevated circulating hepatic transaminase concentration, Re... ORPHA:586
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Eosinophilia, Ulcerative colitis OMIM:617638
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Immunodeficiency, Common Variable, 6
Hepatomegaly, Abnormal T cell count, Abnormal B cell count, Recurrent respiratory infections, Aut... OMIM:613496
Microsporidiosis
Bronchitis, Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis... ORPHA:2552
Leukodystrophy, Hypomyelinating, 24
Cataract, B lymphocytopenia, Hypothyroidism, Microcephaly OMIM:619851
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Neonatal death, Myopathy, Hypertrophic cardiomyopathy OMIM:618237
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ... ORPHA:133
Cholesteryl Ester Storage Disease
Steatorrhea, Death in infancy, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis... OMIM:278000
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Death in childhood, Secundum atrial septal defect, Severely reduced lef... OMIM:620609
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the lung, An... ORPHA:424016
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Death in childhood, Splenomegaly, Cardiomegaly OMIM:269920
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Acitretin/Etretinate Embryopathy
Microcephaly, Antecubital pterygium, Hypoplasia of the thymus, Epicanthus ORPHA:40366
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Anal fissure, Recurrent tonsillitis, Crohn's disease, Acute pa... OMIM:618935
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h... OMIM:617068
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections, Absence of CD8-positive T cells OMIM:608957
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Mevalonic Aciduria
Cataract, Downslanted palpebral fissures, Splenomegaly, Microcephaly ORPHA:29
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Weight loss, Aspiration pneumonia, Microglossia ORPHA:141152
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Miscarriage, Jaundice ORPHA:464370
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:131
Heme Oxygenase 1 Deficiency
Sepsis, Hepatomegaly, Lymphadenopathy, Asplenia, Chemosis, Coombs-positive hemolytic anemia, Thro... OMIM:614034
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Macroglossia, T lymphocytopenia, Sinusitis, Protruding tongue, Failure to thrive, Bron... OMIM:242860
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Pleural effusion, Abnormal lung morphology, Dysphagia, Abnormal pl... ORPHA:50251
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur... ORPHA:331235
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Recurrent staphylococca... OMIM:607676
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S... ORPHA:545
Pearson Syndrome
Reticulocytosis, Microcephaly, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, He... ORPHA:699
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop... OMIM:212140
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Death in childhood, Aspiration pneumonia OMIM:609528
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly, Downslanted palpebral fissures, Cataract, Recurrent respiratory infections, Neutrop... ORPHA:2643
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Chronic mucocutan... ORPHA:98813
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Pericard... OMIM:235510
Ganglioneuroma
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Abnorma... ORPHA:251992
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Recurrent skin infections, Rec... OMIM:620210
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, B lymphocytopenia, Rectal abscess, Failure to thrive, Recurrent sinusitis... OMIM:601495
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Pleu... ORPHA:3452
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia OMIM:618948
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Epicanthus, Recurrent uppe... OMIM:614069
Immunodeficiency 12
Cheilitis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Skin rash... OMIM:615468
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Glossoptosis, Abn... ORPHA:47
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Lymphopenia, Cryptococcal meningitis, T lymphocytopenia OMIM:618309
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor... OMIM:614162
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Ventricular septal defect, Hepatomegaly OMIM:613730
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Recurrent sinopulmonary in... OMIM:618394
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Tularemia
Pneumonia, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Inflammatory abnormality of the ... ORPHA:3392
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent lower respiratory tract infections... OMIM:620430
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r... OMIM:608184
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Recurrent otitis media, P... OMIM:307200
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ... ORPHA:54251
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy ORPHA:157973
Christianson Syndrome
Cachexia, Dysphagia, Gastroesophageal reflux, Death in early adulthood ORPHA:85278
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Pr... ORPHA:1332
Wiskott-Aldrich Syndrome
Acute leukemia, Sepsis, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Conjunc... ORPHA:906
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Glossitis, Cachexia, Hamartomatous polyposis, Hematochezia, G... OMIM:175500
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Leuko... ORPHA:2070
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes OMIM:204200
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Esophageal varix, Portal hypertension, Bone marrow hyp... OMIM:617341
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Recurrent infections, Hypoplasia of the thymus, Hypothyroidism, Increase... ORPHA:84064
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death, Abnormal heart morphology, Small thenar eminence OMIM:613390
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Sinusitis, ... ORPHA:2686
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, Abnormal natural killer cell morphology, B lymphocy... OMIM:615966
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Immunodeficiency 15B
Chronic oral candidiasis, Death in infancy, Failure to thrive, Monocytosis, Reduced natural kille... OMIM:615592
Alexander Disease Type I
Cachexia, Failure to thrive, Dysphagia ORPHA:363717
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Cutaneous abscess, Atopic... OMIM:243700
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Death in i... OMIM:201475
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Usual in... OMIM:620367
Aredyld Syndrome
Cachexia, Hepatomegaly, Splenomegaly ORPHA:1133
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Atelis Syndrome 1
Anemia, Recurrent infections, Hypothyroidism, Downslanted palpebral fissures, Thrombocytopenia, L... OMIM:620184
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Re... ORPHA:275
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Esophageal varix, Hepatosplenomegaly, Micronodular cirrhosis, ... OMIM:618955
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Cachexia, Abnormal gast... ORPHA:1876
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Inflammation of the larg... ORPHA:26790
Hemophagocytic Syndrome Associated With An Infection
Severe cytomegalovirus infection, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer... ORPHA:158048
Lysosomal Acid Lipase Deficiency
Decreased liver function, Steatorrhea, Jaundice, Anemia, Elevated circulating hepatic transaminas... ORPHA:275761
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure ORPHA:75234
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
3-Methylglutaconic Aciduria Type 4
Microcephaly, Failure to thrive, Iris hypopigmentation, Thrombocytopenia, Cataract ORPHA:67048
Agammaglobulinemia, X-Linked
Sepsis, Recurrent otitis media, Anemia, Pyoderma, Recurrent lower respiratory tract infections, R... OMIM:300755
Renpenning Syndrome
High, narrow palate, Cachexia, Anal atresia, Decreased testicular size, Cleft palate ORPHA:3242
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Gastroesophageal reflux, Chronic rhinitis, Recurrent pneumonia, Recurrent... OMIM:615482
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Moynahan Syndrome
Cachexia ORPHA:2574
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T... OMIM:235200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Hypoparathyroidism, Anemia, High palate, Cryptorchidism, Eczemato... ORPHA:235
Melioidosis
Lung abscess, Pneumonia, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelit... ORPHA:31202
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Chronic mucocutaneous candidiasis, Keratocon... OMIM:269200
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Abnormal esophagus morphology, Bronchi... ORPHA:1163
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage, Death in infancy OMIM:618886
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent pneumonia, Thrombocytopenia, Recurrent sinopulmonary infec... OMIM:616576
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Recurrent infections, Micronodular cirrhosis, Decreased proportion of CD4... OMIM:301045
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... ORPHA:398063
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:233710
Wilson Disease
Cirrhosis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... ORPHA:905
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Bronchiolitis, Enterocolitis, Recurrent si... OMIM:614878
Proteus-Like Syndrome
Macrocephaly, Heterochromia iridis, Cataract, Downslanted palpebral fissures, Splenomegaly, Thymu... ORPHA:2969
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Sepsis, Recurrent ... ORPHA:293978
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss ORPHA:1164
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Recurrent upper respiratory tract infe... OMIM:619752
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Anoperineal fistula, Lymphocytosis, Chr... OMIM:301074
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Gastroesophageal reflux, Cachexia, High palate, Neonatal death OMIM:618186
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Coloni... OMIM:618999
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Weight loss, Chronic noninfectious lymphadenopathy, Adrenocorticotropi... ORPHA:100083
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Recurrent infections, Leukocytosis, Microcepha... OMIM:610377
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Recurrent abscess formation, Rectal abscess, Peritoneal abscess, Hyp... ORPHA:436252
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Immunodeficiency 49
Short palpebral fissure, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyto... OMIM:617237
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of... OMIM:611926
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Cardiac arrest, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Abnormal lung morphology, Abnormality of th... ORPHA:33276
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:233690
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport... ORPHA:98850
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Muscular Hypertonia, Lethal
Pneumonia, Death in infancy OMIM:254120
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Splenomegaly, Weight loss ORPHA:391
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune throm... OMIM:301080
Brucellosis
Bronchitis, Miscarriage, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myo... ORPHA:1304
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Epicanthus, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Corneal opacity, Microcephaly, Type I diabetes mellitus, Thromboc... ORPHA:290
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, B lymphocytopenia, Bone marrow hypocellularity, Inflammation of the lar... OMIM:620133
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Elevated circulating hepatic transam... ORPHA:67
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf... OMIM:614868
Radiation Proctitis
Intestinal obstruction, Sepsis, Rectal fistula, Abnormal gastrointestinal vascular morphology, Re... ORPHA:70475
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Neonatal death, Cryptorchidism, Blepharophimosis OMIM:601186
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic anemia, Atopic dermatit... OMIM:620603
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, High palate, Sinusitis, Failure to thrive, Conjunctiv... ORPHA:33110
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomegaly, Reduced ... OMIM:619381
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Arthritis, Lymphopeni... OMIM:604250
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary artery atresia, ... OMIM:301056
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Elevated circulating hepatic transaminase co... OMIM:617591
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, T lymphocytopenia, Recurrent herpes, R... OMIM:610163
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m... OMIM:240300
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Trichothiodystrophy 3, Photosensitive
Ectropion, Recurrent infections, Bilateral cryptorchidism, Failure to thrive, Developmental catar... OMIM:616395
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Bron... ORPHA:51636
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Hepatomega... OMIM:608233
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat... OMIM:612387
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Hypoparathyroi... OMIM:618223
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Atopic dermatitis, Thrombocytopenia, Lymph... OMIM:618624
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Recurrent infections, Failure to thrive, Cataract, Type I diabetes me... ORPHA:251009
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Microlissencephaly
Pneumonia ORPHA:1083
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Microcephaly, Failure to thrive, ... ORPHA:79237
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Hypertension, Pulmonary arterial hypertension, Death in infancy, Cardiomegaly OMIM:613320
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Atelectasis, Pleural eff... ORPHA:2902
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon ORPHA:1438
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn... OMIM:620296
Tetrasomy 12P
Cachexia, Anal atresia, Abnormal soft palate morphology ORPHA:884
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage ORPHA:99931
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227982
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Hypoplasia of the thymus OMIM:617022
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Digeorge Syndrome
Microcephaly, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepati... OMIM:188400
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Lymphopenia, Abnormally low T cell receptor excision c... OMIM:619767
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Recurrent infections, Portal hypertension, Microcephaly, Hypothyroidism... OMIM:620005
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Death in infancy, Neonatal death, Cerebral hemorrhage, Left... OMIM:620300
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Lymphopenia OMIM:616636
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness OMIM:619259
Avian Influenza
Pneumothorax, Elevated circulating hepatic transaminase concentration, Myelitis, Miscarriage, Lym... ORPHA:454836
Vici Syndrome
Ocular albinism, Chronic mucocutaneous candidiasis, T lymphocytopenia, Microcephaly, Ptosis, Recu... OMIM:242840
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Esophageal stenosis, Leukopenia, Colitis OMIM:615190
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Absent eyelashes, Thyroid hypoplasia, Hypoplasia of the thymus... ORPHA:861
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Failure to thrive, Recurrent sinu... OMIM:615207
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Anal stenosis, Anorectal anomaly, Cachexia, Anal atr... ORPHA:647
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocyt... ORPHA:2688
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Alpha-Mannosidosis
Macrocephaly, Hepatomegaly, Corneal opacity, Splenomegaly, Type II diabetes mellitus, Cataract, R... ORPHA:61
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Atelectasis, Lymphadenopathy, Liver abscess, Rectal abscess, Discoid lupus rash, Pl... OMIM:306400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Abnorm... ORPHA:100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large... OMIM:266600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decrea... ORPHA:760
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss ORPHA:86884
Sandhoff Disease
Hepatomegaly, Death in childhood, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle at... OMIM:268800
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Iron deficiency anemia, Decreased body weight, Microcephaly, Hypothyroidism, Epican... OMIM:607906
Q Fever
Elevated circulating hepatic transaminase concentration, Granuloma, Pericarditis, Splenomegaly, C... ORPHA:781
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Neutropenia OMIM:193670
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Death in infancy OMIM:618839
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Gaucher Disease, Type Iiic