Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Cardiomegaly, Death in infancy OMIM:227150
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 18
Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-posit... OMIM:615615
Immunodeficiency 104
Gastroesophageal reflux, T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous... OMIM:608971
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Sepsis OMIM:267500
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren... OMIM:619164
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Recurrent bacterial mening... OMIM:300400
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Pneumonia, Hepatomegaly, Eczematoid dermatiti... OMIM:269840
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Severe viral infection, Recurrent otitis media, Fa... OMIM:615617
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Death in infancy, Bronchiectasis, Coombs-positive he... OMIM:617514
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... OMIM:614096
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal s... ORPHA:424019
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine mo... ORPHA:70482
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, T lymphocytopenia, Increased proportion of transitional B cells, Recurr... OMIM:615513
Immunodeficiency 84
Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple... OMIM:619437
Immunodeficiency 42
Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chronic oral candidiasis, BCGosi... OMIM:616622
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
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Failure to thriv... OMIM:603554
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... OMIM:617241
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... OMIM:618806
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy... OMIM:618987
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Stomach cancer, Anemia, Enlarged polycystic ovaries, Abnormality of th... ORPHA:2869
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Chronic oral candidiasis, Recurrent otitis media, Lymphopenia, Recurrent... OMIM:615401
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Stillbirth OMIM:265880
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent EBV viremia, Decreased CD4:CD8 ratio, Severe varicella zoster infection, Recurrent bro... OMIM:300853
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Perianal... OMIM:618108
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... OMIM:615518
Solitary Rectal Ulcer Syndrome
Anemia, Decreased body weight, Stercoral ulcer, Anal fissure, Rectal prolapse, Hematochezia ORPHA:209964
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss, Abnormality of the gastrointestinal tract ORPHA:52416
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent ... ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr... OMIM:312863
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... OMIM:618204
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... OMIM:619350
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bronchitis, Recurrent otitis media, Absent circulating B ce... OMIM:613501
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... OMIM:619126
Wolman Disease
Anemia, Hepatic failure, Cachexia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal ... ORPHA:75233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to th... OMIM:601457
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent viral infections, Recurrent ... ORPHA:169079
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Pyoderma, Recurrent bronchopulmonary infections, Abnormally low T cell recepto... OMIM:242700
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... ORPHA:444463
Immunodeficiency, Common Variable, 1
Conjunctivitis, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil anti... OMIM:607594
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Cachexia, Tracheoesophageal fistula, Abnormality of mesentery morpholo... ORPHA:93941
Majeed Syndrome
Abnormal inflammatory response, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin,... ORPHA:77297
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Cystic Fibrosis
Meconium ileus, Cirrhosis, Biliary cirrhosis, Bronchiectasis, Asthma, Recurrent bronchopulmonary ... OMIM:219700
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,... OMIM:112200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia OMIM:247800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Generalize... OMIM:618986
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... OMIM:618982
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell recep... OMIM:602450
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast... ORPHA:217390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:C... OMIM:150550
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Isolated Agammaglobulinemia
Anemia, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammatory abnormality of t... ORPHA:229717
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... ORPHA:60033
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intestinal atresia, En... OMIM:243150
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... OMIM:301082
Desmoplastic Small Round Cell Tumor
Anemia, Ovarian neoplasm, Weight loss, Ileus, Neoplasm of the pancreas, Cachexia, Abnormality of ... ORPHA:83469
Immunodeficiency 95
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... OMIM:619773
Thymic Aplasia
Hypothyroidism, Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infec... ORPHA:83471
Immunodeficiency 40
Respiratory tract infection, Rectal fistula, Elevated circulating alanine aminotransferase concen... OMIM:616433
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Chronic bronchitis, Bronchiectasis, Wheezing, Hepatocellular carcinoma, Chronic pulmon... OMIM:613490
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Splenomegaly, Hepatomegaly OMIM:606445
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 17
T lymphocytopenia, Abnormal B cell morphology, Death in infancy, Chronic oral candidiasis, Decrea... OMIM:615607
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Immunodeficiency 50
Neutropenia, Eczema, Recurrent respiratory infections, Lymphopenia OMIM:300988
Reticular Dysgenesis
Leukopenia, Anemia, Weight loss, Aplasia/Hypoplasia of the thymus, Skin rash, Malabsorption, Abno... ORPHA:33355
Idiopathic Achalasia
Bronchitis, Gastroesophageal reflux, Recurrent aspiration pneumonia, Weight loss, Cough, Dysphagi... ORPHA:930
Mirage Syndrome
Leukopenia, Anemia, Decreased body weight, Recurrent urinary tract infections, Decreased testicul... OMIM:617053
Cronkhite-Canada Syndrome
Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Intestinal polyposis... ORPHA:2930
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Asthma, Eczema, Recurrent sinopulmonary infections, Failure to thrive, L... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Neonatal sepsis, Lymphocytosis, Decreased proportion of CD3-positive T cells, ... ORPHA:169154
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells, Recurrent pneumon... OMIM:613500
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop... OMIM:619846
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Increased... OMIM:209950
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infections, Neutrophilia, Failure to... OMIM:226990
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, S... OMIM:612541
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough ORPHA:64741
Pfapa Syndrome
Weight loss, Malabsorption, Arthritis, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Infe... ORPHA:42642
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Recurrent otitis media, Failure to t... OMIM:618495
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, Erythroderma, T lymphocytopenia, Villous atrop... OMIM:619510
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy ORPHA:85447
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp... OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent Haemophilus influenzae infections, Absent tonsils, Hepatomegaly, Decreased proportion o... ORPHA:276
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Abno... ORPHA:37042
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Rec... ORPHA:1572
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... OMIM:619824
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,... OMIM:616005
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... OMIM:252011
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... OMIM:619220
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Abnormal T cell morphology, B lymphocytopenia, Recurrent bronchitis, Recurrent ot... OMIM:612692
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Malabsorption, Cachexia, Gastrointestinal dysmotility, Slender build, Intestinal pse... OMIM:613662
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ... ORPHA:911
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos... ORPHA:824
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... OMIM:600802
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Severe varicella zoster infection, Hepatosplenomegaly, Lymphad... OMIM:618261
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Primary microcephaly ORPHA:89844
Chronic Beryllium Disease
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal propo... ORPHA:133
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Recurrent enteroviral infections, Abnormal B c... ORPHA:331206
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect OMIM:619170
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Immunodeficiency 9
Failure to thrive, Recurrent infections, Hypoplasia of the thymus, BCGitis OMIM:612782
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Lymphangiectasia, Intestinal
Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Stillbirth OMIM:152800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Death in infancy, Hepatomegaly, Cardiomegaly, Death in childhood OMIM:619064
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneu... OMIM:614700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Persistent EBV viremia, Recurrent urinary tract infections, Generalized l... OMIM:615559
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Peutz-Jeghers Syndrome
Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple gastric polyps, B... OMIM:175200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Severe infection, HbS hemoglobin, Reticulocytosis, Persistence of hemoglo... ORPHA:251380
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Lymphocytosis, Pancytopenia, Au... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Failure to thrive, Recurrent infections, Hepatomegaly, Extramedullary hematop... OMIM:615285
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Micro... ORPHA:141152
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Hypoplasia of the thymus, Epicanthus, Jaundice, Intrahepatic biliary dysgenesis... OMIM:214110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Chronic oral candidiasis, Hepatitis, Lymphopenia, Hepatosplenomegaly, Recurrent pne... ORPHA:169160
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Anemia, Cirrhosis, Weight loss, Small intestinal dysmotility, Abnormalit... ORPHA:298
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal a... ORPHA:424016
Familial Atrial Myxoma
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... ORPHA:615
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Cataract, Hepatosplenomegaly OMIM:273680
Galactose Epimerase Deficiency
Weight loss, Jaundice, Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Recurrent bronchitis, Acute lym... OMIM:208900
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center, Recur... ORPHA:79124
Pleural Mesothelioma
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... ORPHA:50251
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Type I diabetes me... OMIM:301078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... OMIM:616100
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 11B With Atopic Dermatitis
Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Pneumonia, Atopic... OMIM:617638
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Hypoplasia of the thymus, Death in infancy, Pyloric stenosis, Pulmonary ... OMIM:613177
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Intussusception, Microangiopathic hemolytic anemia, Peri... ORPHA:90038
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Cystic Fibrosis
Meconium ileus, Gastroesophageal reflux, Cirrhosis, Pneumothorax, Abnormality of the liver, Bronc... ORPHA:586
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, Severe varicella zoster infection, T lymphocytopenia, He... OMIM:606367
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... OMIM:619281
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Pulmonary hypoplasia, Intestinal malrotation, Abnormal biliary tract... ORPHA:3032
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Skin rash, Rectovaginal fistula, ... ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Malabso... OMIM:242860
Felty Syndrome
Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal... ORPHA:47612
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Failure to thrive, Lympha... OMIM:618048
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A... ORPHA:2198
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Achalasia, B lymphocytopenia, Recurrent sinu... OMIM:618969
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Eczema, Lymphopeni... OMIM:618935
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... ORPHA:572
Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Dyspnea, Cough, Hepatomegaly, Splenomegaly ORPHA:98293
Juvenile Polyposis Of Infancy
Anemia, High, narrow palate, Intussusception, Cachexia, Hematochezia, Intestinal bleeding, Refrac... ORPHA:79076
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Cataract, Microcephaly, B lymphocytopenia OMIM:619851
Whipple Disease
Respiratory insufficiency, Anemia, Malabsorption, Arthritis, Pleuritis, Cachexia, Uveitis, Perica... ORPHA:3452
Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion o... ORPHA:2552
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Malabsorption, Jaundice, Esophageal varix, Elevated hepatic transaminase,... ORPHA:131
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Sp... OMIM:278000
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Neonatal death, Flexion contracture, Myopathy OMIM:618237
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, F... OMIM:102700
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... ORPHA:443811
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased p... OMIM:619652
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Short palpebral fissure, Epicanthus, Thin eyebrow, Abnormally low T cell receptor excision circle... OMIM:618092
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Glossoptosis, Weight loss, Hepatitis, Skin rash, Arthritis... ORPHA:47
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Cardiomegaly, Death in childhood, Splenomegaly OMIM:269920
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly OMIM:617068
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Hypoplasia of the thymus, Microcephaly, Epicanthus ORPHA:40366
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Elevated hepatic trans... ORPHA:507
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia, Miscarriage ORPHA:464370
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph... OMIM:616028
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... OMIM:614034
Mevalonic Aciduria
Downslanted palpebral fissures, Cataract, Splenomegaly, Microcephaly ORPHA:29
Ciliary Dyskinesia, Primary, 25
Gastroesophageal reflux, Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Po... OMIM:615482
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Respiratory distress OMIM:619793
Eosinophilic Gastroenteritis
Anemia, Weight loss, Allergic rhinitis, Asthma, Abnormality of the gastrointestinal tract, Malabs... ORPHA:2070
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Cachexia, Death in infancy ORPHA:157973
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... ORPHA:1164
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... ORPHA:3392
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... ORPHA:699
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Respiratory distress, Weight loss OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... OMIM:619051
Colorectal polyposis, Multiple intestinal neurofibromatosis, Gastrointestinal hemorrhage, Central... ORPHA:251992
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia ORPHA:2582
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Recurrent respiratory infections, Cataract, Microcephaly, Neutrop... ORPHA:2643
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lympha... ORPHA:545
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia, Death in childhood OMIM:609528
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Immunodeficiency, Common Variable, 3
Conjunctivitis, Recurrent sinusitis, Recurrent otitis media, Recurrent bacterial infections, Decr... OMIM:613493
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... OMIM:212140
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... ORPHA:331235
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Weight loss, Lymphadenopathy, Abnormal neu... ORPHA:3226
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Recurrent otitis media OMIM:618948
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Glossitis, Xerostomia, Hamartomatous... OMIM:175500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Bronchiectasis, Pleural effusion, Abnormal esophagus morphology, Eosinophilia, Pneumonia, Abnorma... ORPHA:1163
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Epicanthus, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory trac... OMIM:614069
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast... ORPHA:486
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia... OMIM:235510
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia OMIM:614702
Refsum Disease, Classic
Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... ORPHA:1876
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Immunodeficiency 31C
Recurrent vulvovaginal candidiasis, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Vill... OMIM:614162
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect, Hepatomegaly, Death in infancy OMIM:613730
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Exertional dyspnea, Weight loss, Chronic noninfectious lympha... ORPHA:100083
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Neutropenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusitis, Recurrent ot... OMIM:601495
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Dubowitz Syndrome
Respiratory insufficiency, Anemia, High palate, Asthma, Malabsorption, Acute lymphoblastic leukem... ORPHA:235
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Achalasia, Desquamative interstitial pneumonitis, Neutropenia in presence of anti-neutropil antib... OMIM:615952
Omenn Syndrome
Anemia, Erythroderma, Thyroiditis, Failure to thrive, Lymphadenopathy, Leukocytosis, Eosinophilia... ORPHA:39041
Cough, Weight loss, Abnormal lung morphology ORPHA:3389
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Bronchiectasis, Recurrent sinopulmonary infections, Pancytopenia, Ulcerative col... OMIM:618394
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss, Abnormality of the peritoneum, Inflammation of the large ... ORPHA:26790
Cyclic Neutropenia
Respiratory tract infection, Recurrent skin infections, Enterocolitis, Perianal abscess, Periodon... ORPHA:2686
Immunodeficiency 54
Respiratory insufficiency, Reduced natural killer cell count, Adrenocorticotropic hormone excess,... OMIM:609981
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Atopic dermatitis, Weight loss, Abnormality of the gastrointestinal tract, Ast... ORPHA:2902
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy OMIM:619003
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... OMIM:608184
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Abnormal heart morphology, Neonatal death, Small thenar eminence OMIM:613390
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Weight loss, Nodular goiter, Pheochromocytoma, Lymphadenopa... ORPHA:1332
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Esophageal varix, Hepatocellular carcinoma, Elevated h... OMIM:619463
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Weight loss, ... ORPHA:54251
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly OMIM:252920
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, High palate, Hep... ORPHA:33110
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thr... OMIM:618999
Wiskott-Aldrich Syndrome
Conjunctivitis, Anemia, Sepsis, Hypoplasia of the thymus, Hemolytic anemia, Recurrent respiratory... ORPHA:906
Syndromic Diarrhea
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, ... ORPHA:84064
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Death in early adulthood, Dysphagia ORPHA:85278
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Death in infancy, Failure to thrive,... OMIM:615592
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Decr... ORPHA:275761
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Microcephaly, Abnormal natural killer cell morphology, Recu... OMIM:615966
Renpenning Syndrome
Decreased testicular size, Cachexia, Anal atresia, Cleft palate, High, narrow palate ORPHA:3242
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Weight loss, Interstitia... ORPHA:723
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right bundle branch block, Lower limb muscle weakness, Calf muscle hypertrophy, Abn... ORPHA:268
Refractory Celiac Disease
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... ORPHA:398063
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Bronchiectasis, Eosinophilic infiltration of the esophagus, As... OMIM:243700
Neuraminidase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... ORPHA:158048
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Reduced left ventricular ejection fraction, Death in infancy, Exercise-indu... OMIM:201475
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Avian Influenza
Conjunctivitis, Leukopenia, Myelitis, Pneumothorax, Infectious encephalitis, Productive cough, He... ORPHA:454836
Aredyld Syndrome
Cachexia, Splenomegaly, Hepatomegaly ORPHA:1133
Aggressive Systemic Mastocytosis
Anemia, Maculopapular exanthema, Decreased liver function, Weight loss, Malabsorption, Hypersplen... ORPHA:98850
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Failure to thrive, Cataract, Microcephaly, Thrombocytopenia ORPHA:67048
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly OMIM:253250
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Riboflavin Transporter Deficiency
Respiratory insufficiency, Sleep apnea, Cachexia, Dysphagia ORPHA:97229
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... ORPHA:99104
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, High palate, Bronchiectasis, Asthma, Cutaneous abscess, Lympho... OMIM:619752
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exertional dyspnea, Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Dec... ORPHA:42
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... OMIM:235200
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Recurrent sinopulmonary infections, Chronic pulmonary obstruc... OMIM:616576
Moynahan Syndrome
Cachexia ORPHA:2574
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Infectious encephalitis, Recurrent respiratory infections, F... OMIM:308240
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Hepatitis, E... OMIM:269200
Classic Hodgkin Lymphoma
Respiratory insufficiency, Weight loss, Skin rash, Lymphadenopathy, Cough, Bone marrow hypocellul... ORPHA:391
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage, Death in infancy OMIM:618886
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Abnormal parotid gland... ORPHA:31202
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Agammaglobulinemia, X-Linked
Conjunctivitis, Anemia, Enteroviral dermatomyositis syndrome, T lymphocytopenia, B lymphocytopeni... OMIM:300755
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... ORPHA:324410
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... OMIM:233710
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Micronodular cirrhosis... OMIM:301045
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Weight loss, Hepatitis, Lymphocytosis, Skin rash, Thyroiditis, Inte... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Retinitis Pigmentosa 89
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ... OMIM:618955
Wilson Disease
Anemia, Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He... ORPHA:905
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Skin rash, Arthr... OMIM:301074
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Persistent EBV viremia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune... OMIM:613011
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Pleural effusion, Myositis, Panniculi... ORPHA:228119
Proteus-Like Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Macrocephaly, Limbal dermoid, Polycyst... ORPHA:2969
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... ORPHA:36238
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Bronchioli... OMIM:266265
Immunodeficiency 32A
Lymphadenitis, BCGitis, Granuloma, Lymphadenopathy, Recurrent infections OMIM:614893
Amoebiasis Due To Entamoeba Histolytica
Anemia, Pleural empyema, Weight loss, Liver abscess, Elevated hepatic transaminase, Lung abscess,... ORPHA:67
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... ORPHA:436252
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... ORPHA:1303
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary infections, ... OMIM:614878
Mevalonic Aciduria
Downslanted palpebral fissures, Anemia, Hepatosplenomegaly, Fluctuating splenomegaly, Failure to ... OMIM:610377
Hepatocellular Carcinoma
Anemia, Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Esophag... ORPHA:88673
Radiation Proctitis
Abnormal gastrointestinal vascular morphology, Sepsis, Abnormal rectum morphology, Rectal abscess... ORPHA:70475
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Cryptogenic Organizing Pneumonia
Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v... ORPHA:1302
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... OMIM:233690
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Anaplastic Thyroid Carcinoma
Weight loss, Nodular goiter, Respiratory distress, Tracheoesophageal fistula, Lymphadenopathy, Up... ORPHA:142
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Abnormal platelet granules, Gia... ORPHA:238459
Immunodeficiency 49
Short palpebral fissure, T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopeni... OMIM:617237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Anteriorly placed anus, Throm... OMIM:618624
Kaposi Sarcoma
Abnormality of the liver, Weight loss, Abnormality of the gastrointestinal tract, Skin rash, Gene... ORPHA:33276
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Type I diabetes mellitus, Cataract, Corneal opa... ORPHA:290
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... ORPHA:79127
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Epicanthus, Pancytopenia, Leukemia OMIM:614038
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Eso... ORPHA:391487
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... OMIM:619381
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Skin rash, Arthritis, Elevated hepatic transaminase, Lymphopenia, Myositi... OMIM:617591
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... ORPHA:555877
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... OMIM:620133
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the thymus, Absent tonsils, Abnormal... OMIM:611926
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Acholic stools, Eleva... ORPHA:65682
Gastrointestinal Stromal Tumor
Anemia, Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract... ORPHA:44890
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal... OMIM:613807
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Elevated cir... ORPHA:53035
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Developmental cataract, Lymphopenia, Failure to thrive, Cataract, Recur... OMIM:616395
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Thymoma, Non-caseating epithelioid ... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... ORPHA:227990
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Gastroesophageal reflux, Cachexia, High palate OMIM:618186
Hemochromatosis, Type 3
Anemia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Lymphopenia, Neutropenia OMIM:604250
Lymphoid Interstitial Pneumonia
Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Multiple pulmonary cysts, Crackles, Hepatomeg... ORPHA:79128
Systemic Lupus Erythematosus 17
Leukopenia, Malar rash, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Throm... OMIM:301080
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Decreased response to growth hormone stimulation test, Enteroviral dermatomyositi... OMIM:307200
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Chr... OMIM:608233
Rhabdoid Tumor
Respiratory insufficiency, Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Thrombocy... ORPHA:69077
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Bronchiectasis, Abnormality of neutrophil morphology,... ORPHA:51636
Cystic Echinococcosis
Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t... ORPHA:400
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia, Recurrent cand... OMIM:610163
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Asplenia, Hypothyroidism, Chronic oral candidiasis, Keratoconjunctivitis, Ch... OMIM:240300
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Sepsis, Decreased response to growth hormone stimulation test, ... ORPHA:293978
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Small for gestational age, Elevated hepatic transaminase, Megarectum, Hepatomegaly, C... OMIM:301056
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Pancytopenia, Failure to thrive, Cataract, Recurrent infections, Hepato... ORPHA:251009
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Megaloblastic anemia, Eczema, Lymphopenia, Pancytopenia, Recurrent pneumonia, T... OMIM:617780
Pneumonia ORPHA:1083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... ORPHA:308552
Nijmegen Breakage Syndrome
Anorectal anomaly, Hemolytic anemia, Recurrent respiratory infections, Cachexia, Recurrent sinopu... ORPHA:647
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia, Restrictive vent... OMIM:619767
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Increased stool alpha1-antitrypsin co... ORPHA:90362
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... OMIM:618223
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, A... ORPHA:411696
Microphthalmia, Syndromic 9
Blepharophimosis, Hypoplastic spleen, Multilobulated spleen, Cryptorchidism OMIM:601186
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Cataract, Nuc... ORPHA:79237
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Inflammatory ... ORPHA:39812
Bone Marrow Failure Syndrome 6
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of... OMIM:618849
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr... OMIM:261740
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Q Fever
Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural effusion, Hepatomegaly, ... ORPHA:781
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... ORPHA:183675
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal stomach morphology, Abnormality of the perit... ORPHA:2357
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:411703
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Hypoplasia of the thymus OMIM:617022
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Vici Syndrome
Leukopenia, T lymphocytopenia, Recurrent respiratory infections, Ocular albinism, Epicanthus, Lym... OMIM:242840
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Lymphopenia OMIM:616636
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Congestive heart failure, Cardiomyopathy OMIM:619259
Type II diabetes mellitus, Macrocephaly, Cataract, Corneal opacity, Hepatomegaly, Recurrent respi... ORPHA:61
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Recurrent sinusitis, Hepatic steatosis, Parathyroid hyp... OMIM:188400
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Granuloma, Disc... OMIM:306400
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Helicobacte... ORPHA:2688
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Anemia, Hepatic fibrosis, Exocrine pancreatic insufficiency, Blepharophimosis, Ly... OMIM:620005
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Hypoxemia, Airway obstruction, Irregular septal thickening on pulmonary HRCT... ORPHA:90060
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... ORPHA:449280
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Hepatosplenomegaly, Dysphagia, Respiratory failure, Respiratory i... ORPHA:2590
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis OMIM:615190
Treacher-Collins Syndrome
Downslanted palpebral fissures, Blepharospasm, Hypoplasia of the thymus, Absent eyelashes, Thyroi... ORPHA:861
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Panniculitis, Hepatosplenomegaly ORPHA:86884
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Acute Monoblastic/Monocytic Leukemia
Anemia, Exertional dyspnea, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic... ORPHA:514
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Elevated hepatic transaminase, Lymp... ORPHA:100
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly, Optic neuritis, Panniculitis, Neutropenia, ... OMIM:301081
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevated hepatic trans... ORPHA:811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Abnormal pulmonary interstitial morpho... ORPHA:2072
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension,... OMIM:268800
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Gaucher Disease, Type Ii
Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Death in infancy, Apnea, Failure... OMIM:230900
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Weight loss, Ulcerative colitis, Inflammation of ... OMIM:266600
Conjunctivitis, Intestinal perforation, Myocarditis, Hepatic failure, Failure to thrive in infanc... ORPHA:810
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:760
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, High palate, Eczema, Cu... OMIM:618282
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Upslanted palpebral fissure, Decreased body weight, Epicanthus, Iris coloboma, Ca... OMIM:607906
Immunodeficiency 56
Cirrhosis, Hepatic failure, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi... OMIM:615207
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Failure to thrive, Esophageal varix, Portal hyper... OMIM:232500
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Jaundice, N... ORPHA:1333
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Colonic diverticula, Weight loss, Malabsorption, Cachexia, Gastrointestin... OMIM:603041
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Dysphagia, Respiratory failure, Respiratory failure requiri... ORPHA:90117
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Cardiomyopathy OMIM:618839
Legionnaires Disease