Gene Summary

Name:
interleukin 2 receptor, alpha chain
Synonyms:
Il2r,  Ly-43,  IL-2R alpha chain,  CD25

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating phosphate level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.16×10-05
decreased circulating total protein level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.77×10-16
improved glucose tolerance Il2ratm1b(EUCOMM)Wtsi HOM Early adult 6.26×10-10
decreased blood urea nitrogen level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.33×10-05
decreased circulating HDL cholesterol level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-08
increased neutrophil cell number Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased vertical activity Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.17×10-05
abnormal vertebrae morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-08
abnormal cholesterol homeostasis Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.40×10-06
decreased hematocrit Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral density Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 1.62×10-06
decreased circulating serum albumin level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.86×10-39
increased large unstained cell number Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 1.00×10-09
decreased mean corpuscular hemoglobin Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal locomotor behavior Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 9.36×10-05
increased circulating aspartate transaminase level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.71×10-06
decreased circulating alkaline phosphatase level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-15
abnormal freezing behavior Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.97×10-09
decreased body length Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 3.57×10-07
enlarged lymph nodes Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular volume Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 1.10×10-05
decreased circulating calcium level Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 7.24×10-05
decreased heart weight Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.07×10-06
decreased erythrocyte cell number Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal duodenum morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal colon morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin concentration Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal spleen morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased exploration in new environment Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-07
decreased lymphocyte cell number Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 3.32×10-07
decreased hemoglobin content Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.69×10-08
abnormal contextual conditioning behavior Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.52×10-05
decreased locomotor activity Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 3.38×10-09
decreased circulating cholesterol level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.46×10-06
prolonged PR interval Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.61×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

3 Images

Human diseases caused by Il2ra 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 Il2ra by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa... OMIM:606367
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Oligoarthritis, Hepatosplenomegaly, Arthritis, Hip osteoarthritis, Uveitis, Weight... ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Failure to thrive, Oligoarthritis, Rheumatoid arthritis, Abnormal circulating interleukin concent... ORPHA:85410

The table below shows human diseases predicted to be associated to Il2ra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:601859
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Incr... OMIM:618495
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D... OMIM:615615
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Thrombocytopenia, Gastrointestinal hemorrhage, Splenomegaly, Follicular hyperplasia... OMIM:603909
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... OMIM:269840
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Recurrent sinusiti... OMIM:613101
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Inflammation of the large intestine, Polyhydramnios,... OMIM:616868
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral... OMIM:300400
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulator... OMIM:619802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... OMIM:619773
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Abdominal pain, Skin rash, Leukocytosis, Diarrhea,... OMIM:617099
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Diarrhea, Neutropenia, Agammaglobulinemia OMIM:613501
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... OMIM:619924
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... OMIM:300635
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, In... OMIM:618048
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Malabsorption, Hypoproteinemia, Increased proport... ORPHA:398063
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Diarrhea, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased cir... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, T lymphoc... OMIM:618108
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... OMIM:616100
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess, ... OMIM:613148
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Reduced natural kil... OMIM:616050
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... ORPHA:33355
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Aphthous ulcer, I... OMIM:266600
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Increased LD... OMIM:267700
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections OMIM:613860
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Pneumonia, Absence of CD8-posit... ORPHA:911
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Abnormal lymp... OMIM:609529
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa... OMIM:606367
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir... OMIM:605258
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circula... OMIM:617388
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Arthritis, Panhy... OMIM:601457
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... OMIM:614700
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anem... ORPHA:100025
Immunodeficiency 19
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media OMIM:615617
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... ORPHA:2442
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Cognitive impairment, Reduced bone miner... ORPHA:172
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Tube feeding, Decreased circulating IgG level, Oligoarthritis, L... OMIM:619510
Hyper-Igd Syndrome
Increased circulating IgA level, Chronic oral candidiasis, Abdominal pain, Skin rash, Neutrophili... OMIM:260920
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow ... ORPHA:443811
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Boutonneuse Fever
Abdominal pain, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Diarrhe... ORPHA:83313
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, ... OMIM:602450
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Hemophagocyt... OMIM:603553
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Increased circulating IgA level, Pustule, Skin rash, Lymphopenia, Leukopenia, ... OMIM:615934
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomeru... OMIM:304790
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Increased stool ... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Bon... ORPHA:3261
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Small for gestational age, Eczema, Hypoplasia of the thymus, Decreased prop... OMIM:617241
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Shock, Hypoalbuminemia, Neutropenia, Abnormal intestine morphology OMIM:600351
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Recurrent bronchitis, Perianal abscess, Rectovaginal fis... OMIM:612567
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, Enterocolitis, Inte... OMIM:243150
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatos... OMIM:618935
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Biliary tra... OMIM:209920
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Malabsorption, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating... OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Absen... OMIM:600802
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Hepatic failure, Sp... OMIM:308240
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin ... OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphopenia, Hypoproteinemia ORPHA:1116
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Arthritis, ... ORPHA:343
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... OMIM:243700
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Feeding difficulties, Cleft palate, Aspiration pneumonia, Nasogastric tube ... ORPHA:141152
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy ORPHA:52416
Linear Iga Dermatosis
Epistaxis, Oral ulcer, Inflammation of the large intestine ORPHA:46488
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ventricular septal defect, Anteriorly placed anus, Increased circulating free fatty... ORPHA:26793
Angiostrongyliasis
Constipation, Increased circulating IgA level, Abdominal pain, Projectile vomiting, Increased cir... ORPHA:74
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Leukopenia, Abnormal ... ORPHA:507
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... OMIM:615895
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Idiopathic Achalasia
Gastroesophageal reflux, Cough, Wheezing, Recurrent aspiration pneumonia, Bronchitis, Malnutritio... ORPHA:930
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... OMIM:615190
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Melioidosis
Prostatitis, Osteoarthritis, Acute infectious pneumonia, Hepatitis, Pneumonia, Respiratory tract ... ORPHA:31202
Wolman Disease
Abdominal distention, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Anemia, Cachexia,... ORPHA:75233
Dengue Fever
Hepatomegaly, Cerebral hemorrhage, Hypoproteinemia, Leukopenia, Hypotension, Gastrointestinal hem... ORPHA:99828
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of ... OMIM:618213
Immunodeficiency 69
Failure to thrive, Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocy... OMIM:618963
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron defi... OMIM:226300
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Spinal rigidity, Flexion contracture, Elevated circulating creatine kinase concentr... OMIM:615883
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Recurrent infection of the gastrointestinal tract, Au... OMIM:608184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Erythroderma, Jaundice, Lymphadenopathy,... ORPHA:540
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr... ORPHA:29073
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Feeding difficulties, Pyloric st... OMIM:616395
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Porphyria, Acute Hepatic
Hemolytic anemia, Failure to thrive, Abdominal colic, Vomiting OMIM:612740
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... ORPHA:37042
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of... OMIM:619381
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... ORPHA:572
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Respiratory insufficiency, Inflammation of the large intestine, Int... ORPHA:26790
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... ORPHA:2070
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Johanson-Blizzard Syndrome
Anal atresia, Exocrine pancreatic insufficiency, Malabsorption, Abnormal cardiac septum morpholog... ORPHA:2315
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hepatomegaly, Pancreatitis, Microcytic anemia, Dilated cardiomyopathy, Hypoalbu... OMIM:618805
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Otitis media, Splenomegaly, Autoimmune ... ORPHA:1572
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Irritability, ... ORPHA:247585
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea OMIM:615592
Cleft Velum
Nasal regurgitation, Velopharyngeal insufficiency, Aspiration pneumonia, Poor suck, Recurrent oti... ORPHA:99772
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Atypical Hemolytic Uremic Syndrome
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... ORPHA:2134
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Irritability, Increased bone mineral density, Depression, Sho... ORPHA:94089
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Irritability, Increased bone mineral density, D... ORPHA:36913
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Scoliosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Joint hy... OMIM:619013
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, H... ORPHA:2137
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... OMIM:208920
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of ... ORPHA:3319
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Pancytopenia, Thrombocytosi... OMIM:604416
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Stomach cancer, Anorexia, Splenomegaly, Cachexia, Di... ORPHA:2930
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Abdominal distention, Hepatomegaly, Abdominal pain, Anemia, Cach... ORPHA:83469
Enterocolitis
Abdominal distention, Hematochezia, Enterocolitis, Ulcerative colitis OMIM:226150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormall... OMIM:242700
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... OMIM:275350
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Mental deterioration, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
X-Linked Agammaglobulinemia
Malabsorption, Hypocalcemia, Osteomyelitis, Glossoptosis, Abnormality of the lymphatic system, Ar... ORPHA:47
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Igg4-Related Aortitis
Increased circulating antibody level, Abdominal pain, Complement deficiency, Increased circulatin... ORPHA:449400
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Malabsorption, Eczematoid dermatitis, ... ORPHA:83471
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Anorexia, Extramedullary hematopoiesis, Hepatosplenomeg... ORPHA:824
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Hemophagocy... OMIM:301078
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Aggressive Systemic Mastocytosis
Abdominal cramps, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mast cells, Pa... ORPHA:98850
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Cleft palate, Pulmonary l... OMIM:235255
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Hypocalcemia, Hepatomegaly, Osteomyelitis, Increased bon... OMIM:259700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Lymphocytosis, Abd... OMIM:301074
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Dysmetria, Depression, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Chronic oral candi... ORPHA:275
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Abdominal pain, Complement deficiency, Monoclonal elevation of circul... ORPHA:91139
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Cholestasis, Camptodactyly, Elevated circulating creatinine concentrati... OMIM:608104
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, E... OMIM:615607
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Malabsorption, Decreased circulating IgA level, Sinusitis, Macroglossia, Diarr... OMIM:242860
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism ORPHA:88643
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Tularemia
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Cervical lymphaden... ORPHA:3392
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia OMIM:616744
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... ORPHA:53
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Anemia, Diarrhea, M... ORPHA:169105
Celiac Disease, Susceptibility To, 1
Ataxia, Hypocalcemia, Steatorrhea, Depression, Anxiety, Osteoporosis, Macrocytic anemia, Iron def... OMIM:212750
Alg6-Cdg
Ataxia, Macroglossia, Scoliosis, Decreased LDL cholesterol concentration, Protein-losing enteropa... ORPHA:79320
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat... OMIM:618278
Gitelman Syndrome
Gout, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abnormal T-wav... ORPHA:358
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Failure to thrive, Gastroesophageal reflux, Anorexia, Eosinophil... ORPHA:90045
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemi... ORPHA:1667
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Myocarditi... ORPHA:292
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Babesiosis
Hepatomegaly, Hepatic failure, Anorexia, Splenomegaly, Leukopenia, Hemolytic anemia, Nausea and v... ORPHA:108
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... OMIM:613662
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Diarrhea, Absence of lymph node germinal center, Panhypo... ORPHA:79124
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, T... ORPHA:94093
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Diarrhea, Hemolytic anemia, Nausea and vomiting, Lymphadenopathy ORPHA:56425
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Immunodeficiency 23
High palate, Failure to thrive, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eo... OMIM:615816
Brucellosis
Hepatomegaly, Vomiting, Myocarditis, Thrombocytopenia, Epididymitis, Pneumonia, Knee osteoarthrit... ORPHA:1304
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619752
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Hyperproteinemia, Elevated plasma cell count,... ORPHA:90041
Tempi Syndrome
Increased hematocrit, Ascites, Polycythemia, Increased circulating IgG level ORPHA:284227
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Hypercalcemia, Internal hemorrhage, Hypertension, Anemia... ORPHA:69077
Abetalipoproteinemia
Ataxia, Hepatomegaly, Steatorrhea, Osteopenia, Fat malabsorption, Reticulocytosis, Cardiomegaly, ... ORPHA:14
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:137100
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hepatomegaly, Atrial septal defect, Macroglossia, Splenomegaly, Hypertrophic c... OMIM:617303
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, H... ORPHA:77297
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hemolytic anemia, Hepatosplenomegaly, Ascites OMIM:600461
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Recurrent respiratory infections, Pneumonia OMIM:226990
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Malabsorption, Xerostomia, Hematochezia, Glossitis, Pr... OMIM:175500
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of th... ORPHA:229717
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Pneumonia OMIM:614069
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Neutropenia, Hepatomegaly, Abnormal T cell ... ORPHA:158048
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Obesity OMIM:605309
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... ORPHA:90003
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Abnormality of the gastrointestinal tract, Scoliosis, Pro... ORPHA:79327
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Maculopapular exanthem... ORPHA:319218
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Pulmonary lymphangiectasi... ORPHA:1655
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Hepatomegaly, Nephritis, Coombs-positive hemol... OMIM:614034
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Immunodeficiency 58
Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pyl... OMIM:618131
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Failure to thrive, Hepatomegaly, Lymphopenia, Sk... OMIM:617591
Thymoma
Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo... ORPHA:99867
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice ORPHA:33574
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Intestinal perforation, Abnormality of the tongue, Abnormal salivar... ORPHA:314652
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... OMIM:313900
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg... OMIM:614576
Igg4-Related Submandibular Gland Disease
Prostatitis, Facial edema, Sialadenitis, Abnormal pancreas morphology, Xerostomia, Abnormal saliv... ORPHA:449432
Hepatocellular Carcinoma
Hepatomegaly, Esophageal varix, Emotional lability, Jaundice, Hyperbilirubinemia, Hyponatremia, H... ORPHA:88673
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Red... ORPHA:848
Nephrotic Syndrome, Type 1
Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Pyloric stenosis, Hypoalbuminemia OMIM:256300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Recurrent skin infectio... OMIM:617744
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Diarrhea, Abscess, B lymphocytopenia, Intermittent thromb... OMIM:150550
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Folate Malabsorption, Hereditary
Failure to thrive, Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Neutrope... OMIM:229050
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Self-mutilation, Left ventricular hypertrophy, Hepatosplenomegaly, Scoliosis, Osteo... OMIM:619487
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Elevated circulating creatinine concentration, Pericarditis, Reticuloc... ORPHA:99826
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemi... OMIM:615558
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Microvillus inclusio... OMIM:619445
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Macroglossia, Eczema, Eosinophilia, Chronic diarrhea, Recurrent otitis media, Bronchie... OMIM:618523
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Flexion contracture, Depression, Abnormal circulating selenium concentra... ORPHA:89842
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Leukocytosis, Abnormal pericardium morphology, Constrictive pericarditis, Intestin... ORPHA:67
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... ORPHA:217390
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Hypoglycemia, Ventricular septal defect, Patent foramen ovale,... OMIM:601005
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... ORPHA:33110
Al Amyloidosis
Hepatomegaly, Postural hypotension with compensatory tachycardia, Gastrointestinal hemorrhage, Ab... ORPHA:85443
Harderoporphyria
Hepatomegaly, Splenomegaly, Vomiting, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... ORPHA:79493
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Hypoalbuminemia, Jaundice OMIM:617156
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... OMIM:259720
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Steinert Myotonic Dystrophy
Cholelithiasis, Inability to walk, Hyperinsulinemia, Mental deterioration, Falls, Emotional labil... ORPHA:273
Pseudohypoparathyroidism, Type Ia
Cognitive impairment, Short neck, Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Subcutane... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Short neck, Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Ataxia, Hepatomegaly, Dysmetria, Steatorrhea, Flexion contracture, Osteopenia, Thromboc... OMIM:212065
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hepatomegaly, Abnormally ossified vertebrae, Short neck, Abno... ORPHA:175
Pearson Syndrome
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft li... ORPHA:699
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Otitis media, Recurrent ski... ORPHA:2686
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... ORPHA:86839
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Stomatitis, Gingivitis, Recurrent gastroenteritis OMIM:618648
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615451
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Weight loss, Increased circulating... OMIM:615846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Inability to walk, Short neck, Thrombocytopenia, Bone marrow hypocellu... ORPHA:505248
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... OMIM:617780
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Small for gestational age, Anisocyto... OMIM:224120
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Abscess, Vomiting, Myocarditis, Choles... ORPHA:810
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Scoliosis, Thoracic kyphosis, Protein-los... OMIM:618440
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis, Small for ge... OMIM:215250
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased... ORPHA:2688
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures OMIM:146200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Anorexia, Hepatosplenomegaly, Hemolytic ane... OMIM:611590
Insulin-Resistance Syndrome Type B
Decreased body weight, Decreased serum complement factor B, Increased circulating IgA level, Neph... ORPHA:2298
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss OMIM:612075
Mevalonic Aciduria
Failure to thrive, Fluctuating hepatomegaly, Skin rash, Fluctuating splenomegaly, Leukocytosis, I... OMIM:610377
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Coproporphyria, Hereditary
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Increased fecal cop... OMIM:121300
Trypsinogen Deficiency
Anal atresia, Hypoproteinemia OMIM:614044
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa... ORPHA:79078
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... OMIM:615294
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B... OMIM:619313
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Okur-Chung Neurodevelopmental Syndrome
High palate, Failure to thrive, Decreased circulating IgA level, Constipation, Decreased circulat... OMIM:617062
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Primary Biliary Cholangitis
Increased circulating IgA level, Abdominal distention, Hepatic failure, Cirrhosis, Hepatocellular... ORPHA:186
Hypocalcemic Vitamin D-Resistant Rickets