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Gene: Il2ra MGI:96549

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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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 Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Gross Pathology and Tissue Collection

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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
T lymphocytopenia, Eczema, Hepatosplenomegaly, Erythroderma, Chronic diarrhea, Psoriasiform derma... OMIM:606367
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Anemia, Weight loss, Hip osteoarthritis, Enthesitis, Arthritis, Iridocyclitis, Sy... ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Uveitis, Increased circulating interferon-gamma concentrati... 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 With Lymphoproliferation
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Defective T cell proli... OMIM:618534
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Immunodeficiency 27A
Anemia, Diarrhea, Weight loss, Enlarged mesenteric lymph node, Hepatosplenomegaly, Anorexia, Lymp... OMIM:209950
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased circulating antibody level... OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Diarrhea, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphaden... OMIM:618495
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Eczema, Co... OMIM:607271
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea, T lymphocytopenia, Erythroderma, Decreased lymphocyte proliferation in response... ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... OMIM:618982
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, D... OMIM:615615
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:603909
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Failure to... OMIM:615767
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt... OMIM:308230
Immunodeficiency 48
Panhypogammaglobulinemia, Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Hepatomeg... OMIM:269840
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, El... OMIM:616868
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Decreased circulating tota... OMIM:300400
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Impaired lymphocyte transformation wi... OMIM:617006
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... OMIM:619802
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia, Recurrent viral ... OMIM:619773
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... OMIM:618394
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Enlarged kidney, Fail... OMIM:615285
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Chronic diarrhea, Diarrhea, Skin rash, Abdominal pain, Neutrophilia, Lymphadenopathy, Increased c... OMIM:617099
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency 70
Achalasia, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody lev... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Decreased circulating antibody level, Pancytopenia, In... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Fai... OMIM:618048
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, T lymphocytopenia, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T c... ORPHA:277
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
Jejunitis, Villous atrophy, Malabsorption, Normocytic anemia, Hypophosphatemia, Hypocalcemia, Abn... ORPHA:398063
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneu... ORPHA:276
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Immunodeficiency, Common Variable, 1
Conjunctivitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Decreased circulating total IgM, Neu... OMIM:607594
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Diarrhea, Bronchiectasis, T lymphocytopenia, B lymphocytopenia... OMIM:618108
Inflammatory Bowel Disease 28, Autosomal Recessive
Oral ulcer, Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, He... OMIM:613148
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Decreased circulating total IgM, D... OMIM:616100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Diarrhea, Recurrent otitis media, Abse... OMIM:613501
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Enterocolitis, Villous atrophy, Reduced natural killer... OMIM:616050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... OMIM:615513
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... OMIM:617638
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Aphthous ulcer, Abdominal pain, Ulcerat... OMIM:266600
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Reticular Dysgenesis
Leukopenia, Anemia, Diarrhea, Weight loss, Decreased circulating antibody level, Malabsorption, S... ORPHA:33355
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Diarrhea, Chronic oral candidiasis, Decreased lymphocyte proliferation in response ... ORPHA:169160
Immunodeficiency, Common Variable, 2
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent ... OMIM:240500
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... OMIM:247800
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections OMIM:613860
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Ulcerative colitis, Leukocytosis, Bloody diarrhea OMIM:619398
Immunodeficiency 76
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphad... OMIM:619164
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Abnormal lymp... OMIM:609529
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis ... OMIM:613502
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Chronic diarrhea, Colitis, Pneu... ORPHA:911
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... OMIM:617388
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Abnormal T cell morphology, Diarrhea, B lymphocytopenia, Decreased circulating to... OMIM:612692
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Eczema, Hepatosplenomegaly, Erythroderma, Chronic diarrhea, Psoriasiform derma... OMIM:606367
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Recurrent otitis media, Au... ORPHA:444463
Immunodeficiency 104
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Eczema, Recurrent otitis media, Chronic muc... OMIM:608971
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... OMIM:615592
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Chronic diarrhea, Thro... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Irritability, Pancytopenia, Hepatospleno... OMIM:603553
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestine morphology, Hypoca... ORPHA:100025
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Hyper-Igd Syndrome
Lymphadenitis, Vomiting, Diarrhea, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, ... OMIM:260920
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Malabsorption, Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomeg... ORPHA:172
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... ORPHA:443811
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... ORPHA:2442
Boutonneuse Fever
Leukopenia, Diarrhea, Skin rash, Abdominal pain, Lymphadenopathy, Nausea, Increased circulating I... ORPHA:83313
Immunodeficiency 85 And Autoimmunity
Tube feeding, Oligoarthritis, Reduced natural killer cell count, Vomiting, Chronic diarrhea, T ly... OMIM:619510
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia, Periodontitis OMIM:162700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... OMIM:300853
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymph... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Diarrhea, T lymphocytopenia, B lymph... OMIM:601457
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Increased stool ... ORPHA:90362
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... OMIM:608106
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Malar rash, Skin rash, Lymphopenia, Myositis, Pustule, Failure to thrive, Fol... OMIM:615934
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Erythroderma, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Ec... OMIM:304790
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Hypoplasia of the thymus, Small for gestational age, Decreased prop... OMIM:617241
Immunodeficiency 102
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-positive helper T ... OMIM:301082
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased proportion of class-switched memo... OMIM:617765
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Absent circu... OMIM:613500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Duode... OMIM:243150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Malabsorption, Abnormal intestine morphology, Hypoproteinemia, Thromb... OMIM:226300
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... OMIM:312863
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Recurrent bronchitis, Enterocutaneous ... OMIM:612567
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Granuloma, Eczema, Lymphopeni... OMIM:618935
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Failure t... OMIM:616740
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... OMIM:619707
Intermediate Osteopetrosis
Increased susceptibility to fractures, Back pain, Anemia, Osteomyelitis, Recurrent fractures, Hyp... ORPHA:210110
Lymphangiectasia, Intestinal
Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Partial absence of speci... OMIM:619652
Immunodeficiency 40
Intermittent diarrhea, T lymphocytopenia, Chronic oral candidiasis, Interstitial pneumonitis, Red... OMIM:616433
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Villous atrophy, Malabsorption, Chronic mucocutaneous candidiasis, Chol... OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Recur... OMIM:600802
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Infectious encephalitis, Fulminant hepatitis, Reduced natural killer cell activi... OMIM:308240
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Lymphadenopathy, Intestinal o... ORPHA:343
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Wiskott-Aldrich Syndrome
Diarrhea, Eczema, Recurrent sinusitis, Eosinophilia, Chronic diarrhea, Hematemesis, Decreased pro... OMIM:301000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Pericardial effusion, Elevated circulating creatine kinase concentratio... ORPHA:26793
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... OMIM:243700
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Hypoproteinemia, Lymphopenia ORPHA:1116
Angiostrongyliasis
Hypereosinophilia, Vomiting, Poor appetite, Abdominal pain, Projectile vomiting, Increased circul... ORPHA:74
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Congestive heart failure, Elevat... OMIM:615895
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Decreased circulating total IgM, ... ORPHA:35078
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Increased circulating ... ORPHA:507
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Anorexia, Lymphadenopathy, Splenomegaly ORPHA:52416
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Perianal abscess, Eosinophilic infiltration of the esophagus, Decreased T cell a... OMIM:618213
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularit... OMIM:615190
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Immunodeficiency 22
Anemia, Diarrhea, Chronic oral candidiasis, Decreased circulating total IgM, Protracted diarrhea,... OMIM:615758
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine, Oral ulcer ORPHA:46488
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... ORPHA:2494
Idiopathic Achalasia
Bronchitis, Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Cough, Dysphag... ORPHA:930
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to t... OMIM:226990
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, R... ORPHA:141152
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Dengue Fever
Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorr... ORPHA:99828
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Cognitive impairment, Abnormal liv... ORPHA:64743
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... OMIM:612526
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hep... ORPHA:37748
Wolman Disease
Hepatic failure, Anemia, Nausea and vomiting, Cachexia, Steatorrhea, Abdominal distention, Malnut... ORPHA:75233
Immunodeficiency 69
Anemia, Diarrhea, Skin rash, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis,... OMIM:618963
Melioidosis
Septic arthritis, Respiratory tract infection, Prostatitis, Abnormal parotid gland morphology, He... ORPHA:31202
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Porphyria, Acute Hepatic
Abdominal colic, Failure to thrive, Vomiting, Hemolytic anemia OMIM:612740
Iga Pemphigus
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Ulcerative coliti... ORPHA:555905
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Pyloric stenosis, Lymphopenia, Failure to thrive, Meckel diverticulum, Incre... OMIM:616395
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Myopathy, Tubular Aggregate, 2
Falls, Spinal rigidity, Elevated circulating creatine kinase concentration, Ankle flexion contrac... OMIM:615883
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea OMIM:191390
Multiple Myeloma
Anemia, Weight loss, Decreased circulating antibody level, Functional abnormality of the gastroin... ORPHA:29073
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Diarrhea, Bronchiectasis, Bowel irritability, Gastritis, Colitis, Recurrent sk... OMIM:619381
Chédiak-Higashi Syndrome
Inability to walk, Pericardial effusion, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abno... ORPHA:167
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... OMIM:614878
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Hepatomegaly, Colitis, Erythroderma, Decreased liver functio... ORPHA:540
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Enterocolitis, Diarrhea OMIM:260005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Eczema, Myositis, Abnormal intestine morphology, Gast... ORPHA:37042
Johanson-Blizzard Syndrome
Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Malabsorption, Anal atre... ORPHA:2315
Eosinophilic Gastroenteritis
Anemia, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Elevated circulati... ORPHA:2070
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Chilblains, Feeding difficulties, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615010
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... ORPHA:482
Pseudomyxoma Peritonei
Respiratory insufficiency, Nausea and vomiting, Abdominal pain, Inflammation of the large intesti... ORPHA:26790
Citrullinemia Type Ii
Hepatic fibrosis, Aggressive behavior, Irritability, Hepatocellular carcinoma, Acute hyperammonem... ORPHA:247585
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antibody level,... ORPHA:1572
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Hepatomegaly,... OMIM:618805
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Diarrhea, Sclerosing cholangitis, Decreased proportion of CD4-positive helper ... ORPHA:572
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level OMIM:300988
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... OMIM:613011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Absent specific antibody response, Eosinophilia, Chronic diarrhea, Hepatomegaly, Pneumo... OMIM:102700
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Increased bone mineral density, Ventricular arrh... ORPHA:36913
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Juvenile rheumatoid arthritis, ... ORPHA:158061
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating crea... OMIM:208920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Diarrhea, B lymphocytopenia, Decreased circulating total IgM, Decreased circulating ... OMIM:614069
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Joint hypermobility, Hepatic steatosis, Scoliosis, Hypertriglyceridemia, Micr... OMIM:619013
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Short neck, Scoliosis, Decreased skull ossification, ... ORPHA:3319
Cronkhite-Canada Syndrome
Stomach cancer, Anemia, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cach... ORPHA:2930
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Coliti... OMIM:604416
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia OMIM:607250
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... OMIM:242700
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthritis, Sclerosing chola... ORPHA:2137
Desmoplastic Small Round Cell Tumor
Anemia, Weight loss, Nausea and vomiting, Abdominal pain, Neoplasm of the pancreas, Cachexia, Abn... ORPHA:83469
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Weight loss, Increased circulating antibody ... ORPHA:449400
Thymic Aplasia
Diarrhea, T lymphocytopenia, Chronic oral candidiasis, Malabsorption, Coombs-positive hemolytic a... ORPHA:83471
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Immunodeficiency 61
Decreased circulating total IgM, Malabsorption, Arthritis, Decreased circulating IgG2 level, Recu... OMIM:300310
X-Linked Agammaglobulinemia
Anemia, Osteomyelitis, Malabsorption, Arthritis, Hepatitis, Hypocalcemia, Abnormality of the lymp... ORPHA:47
Transcobalamin Ii Deficiency
Vomiting, Diarrhea, Reticulocytopenia, Decreased circulating total IgM, Pancytopenia, Erythroid h... OMIM:275350
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Diarrhea, Perianal abscess, Increased circulating interleukin ... OMIM:301074
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Weight loss, Abdominal ... ORPHA:98850
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea OMIM:614102
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Anorexia, Lymphadenopathy, Th... ORPHA:824
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hyp... OMIM:235255
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Tularemia
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... ORPHA:3392
Immunodeficiency 17
Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m... OMIM:615607
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Weight loss, Abnormality of ... ORPHA:91139
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Peptic ulcer, Hyperuricemia, Increased red b... ORPHA:90041
Osteopetrosis, Autosomal Recessive 1
Anemia, Splenomegaly, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Hy... OMIM:259700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia ORPHA:94124
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropathy, Hypoalbuminemia OMIM:615863
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Spastic gait, Fat malabsorption, Type I diabetes mellitu... ORPHA:96180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Colitis ORPHA:88643
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Steatorrhea, Ataxia, Rickets, Celiac disease, Thrombocytosis, Macrocyti... OMIM:212750
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration, Tachycardia OMIM:221400
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Perimembranous ventricular septal defect, Camptodactyly, Short neck, Cholestasis, Hepatom... OMIM:608104
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Diarrhea, Malabsorption, Ma... OMIM:242860
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Diarrhea, Hepatocellular necrosis, Elliptocyt... OMIM:618278
Wolcott-Rallison Syndrome
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Abnormality of the l... ORPHA:1667
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypoglycemia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Alg6-Cdg
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Macroglossia, Ataxia... ORPHA:79320
Albers-Schönberg Osteopetrosis
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... ORPHA:53
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Good Syndrome
Thymoma, Anemia, Diarrhea, Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplas... ORPHA:169105
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Hereditary Folate Malabsorption
Gastroesophageal reflux, Megaloblastic anemia, Diarrhea, Nausea and vomiting, Decreased circulati... ORPHA:90045
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Immunodeficiency 23
Esophageal stricture, High palate, Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Increased... OMIM:615816
Gitelman Syndrome
Pericardial effusion, Neoplasm of the pancreas, Palpitations, Glucose intolerance, Type II diabet... ORPHA:358
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Babesiosis
Leukopenia, Hepatic failure, Hemolytic anemia, Nausea and vomiting, Jaundice, Anorexia, Hepatomeg... ORPHA:108
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Lymphad... ORPHA:70482
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Malabsorption, Abdominal pain, Cachexia, Abdominal distention, Malnutrition, Gastroi... OMIM:613662
Congenital Enterovirus Infection
Hypotension, Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Hep... ORPHA:292
Whim Syndrome 1
Decreased circulating antibody level, Neutropenia, Bronchiectasis, Decreased circulating IgG level OMIM:193670
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Anxiety, Hypocalcemia, Hyperka... ORPHA:94093
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Diarrhea, Recurrent aspiration pneumonia, Hepatosplenomegaly, Chronic hepatic ... ORPHA:79124
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Cold Agglutinin Disease
Hemolytic anemia, Diarrhea, Nausea and vomiting, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... ORPHA:1304
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:137100
Majeed Syndrome
Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Malabsorption, Synovitis, Cache... ORPHA:77297
Abetalipoproteinemia
Fat malabsorption, Reticulocytosis, Hepatic steatosis, Steppage gait, Hepatomegaly, Hypocholester... ORPHA:14
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, High palate, Decreased circulating total IgM, Bronchiectasis, ... OMIM:619752
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... ORPHA:1303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Ventricular septal defect, Pulmonary lymphangiectasia, Hypocalcemia, Hepatosplenomeg... ORPHA:1655
Sickle Cell Anemia
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones... ORPHA:232
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, Hypercalcemia,... ORPHA:69077
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Tempi Syndrome
Increased hematocrit, Ascites, Increased circulating IgG level, Polycythemia ORPHA:284227
Pyoderma Gangrenosum
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... ORPHA:48104
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Anemia, Vomiting, Cirrhosis, Diarrhea, Weight loss, Small intestinal dys... ORPHA:298
Alg1-Cdg
Cardiomyopathy, Kyphosis, Abnormality of the gastrointestinal tract, Limitation of joint mobility... ORPHA:79327
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Flexion contracture, Inability to walk, Macroglossia, Atrial septal defect, C... OMIM:617303
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Isolated Agammaglobulinemia
Anemia, Diarrhea, Malabsorption, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnor... ORPHA:229717
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Coombs-positive he... OMIM:614034
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Malabsorption, Gastrointestinal carcinoma, Hypokalemia, Hypocalcemia, Glossitis, Xerostom... OMIM:175500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Absent circu... OMIM:619705
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distr... OMIM:261000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... OMIM:301081
Ebola Hemorrhagic Fever
Leukopenia, Vomiting, Diarrhea, Poor appetite, Hepatitis, Increased circulating antibody level, A... ORPHA:319218
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Abdominal pain, Reticulocytosis, Persistence of hemoglobi... ORPHA:251380
Thymoma
Neoplasm of the gastrointestinal tract, Weight loss, Leukemia, Rheumatoid arthritis, Decreased ci... ORPHA:99867
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Increased bone density with cystic c... ORPHA:94089
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic diarrhea, Decreased T cell activation, Bronchiectasis, All... OMIM:618131
Hepatocellular Carcinoma
Hypotension, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Abnormal rectum morpholo... ORPHA:88673
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ... OMIM:617591
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infection... OMIM:253240
Harderoporphyria
Vomiting, Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Prol... OMIM:618892
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormality of the tongue, Abnormal salivary gland morphology, Inte... ORPHA:314652
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis OMIM:618806
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Pancytopenia, Inflammation of the large intestine, Failure to thrive, Impaired T cell ... OMIM:614576
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Chronic oral candidia... OMIM:150550
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Short neck, Hypocalcemia, Osteoporosis OMIM:612462
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... OMIM:613673
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Cholangitis, Periorbital edema, Abnormality of the submand... ORPHA:449432
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Macroglossia, Eczema, Recurrent otitis media, Eosinophilia, Chronic diarrhea, Ker... OMIM:618523
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... OMIM:613752
Thrombocytopenia 1
Eczema, Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytop... OMIM:313900
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lact... OMIM:223100
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Systolic heart murmur, Portal inflammation, Hyperinsulinemic hypogly... OMIM:619991
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Anemia, Esophageal stricture, Flexion contracture, Anxiety, Ankyloglossi... ORPHA:89842
Marburg Hemorrhagic Fever
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... ORPHA:99826
Analbuminemia
Hypotension, Elevated circulating transferrin concentration, Increased LDL cholesterol concentrat... OMIM:616000
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Rec... ORPHA:217390
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... OMIM:615558
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Al Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Abnormal P wave, Howell-Jolly bodies, Abnor... ORPHA:85443
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Diarrhea, Bronchiectasis, High palate, Hepatitis, Skin rash, Arthr... ORPHA:33110
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Immunodeficiency 65, Susceptibility To Viral Infections
Gingivitis, Recurrent gastroenteritis, Stomatitis, Bronchiectasis OMIM:618648
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Hypophosphatemia, Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess ORPHA:89937
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Vomiting, Dependency on parenteral nutrition, Villous atrophy, Bronc... OMIM:619445
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Aggressive behavior, Falls, Insulin resistance, Colon ca... ORPHA:273
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Prolonged QT interval, Cardiomegal... OMIM:601005
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Liver abscess, Lung abscess, Congestive heart failure, C... ORPHA:67
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Short neck, Osteoporosis, Subcutane... OMIM:103580
Immunodeficiency 7
Hypereosinophilia, Diarrhea, Chronic oral candidiasis, Recurrent otitis media, Autoimmune hemolyt... OMIM:615387
Aicardi-Goutieres Syndrome 9
Anemia, Hepatic fibrosis, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, H... OMIM:619487
Cyclic Neutropenia
Enterocolitis, Perianal abscess, Periodontitis, Abdominal pain, Decreased eosinophil count, Perit... ORPHA:2686
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cognitive impairment, Kyphosis, Mental deterioration, Ataxia, Increased skull ossification, Crani... OMIM:618476
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Productive cough, Respiratory insufficiency due to defective ... OMIM:615451
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Failure to thrive, Decreased circulating IgA level, Recurre... OMIM:617744
Aicardi-Goutieres Syndrome 7
Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Hemateme... OMIM:615846
Osteopetrosis, Autosomal Recessive 5
Anemia, Osteopetrosis, Increased bone mineral density, Hyperbilirubinemia, Irritability, Hypocalc... OMIM:259720
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Hepatic fibrosis, Flexion contracture, Kyphosis, Villous atrophy, Pericardial eff... OMIM:212065
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Co... OMIM:613960
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... ORPHA:86839
Pearson Syndrome
Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Dysphagia, Thrombo... ORPHA:699
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus OMIM:109350
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... ORPHA:69126
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... OMIM:224120
Mevalonic Aciduria
Failure to thrive in infancy, Anemia, Vomiting, Diarrhea, Skin rash, Morbilliform rash, Increased... OMIM:610377
Blue Diaper Syndrome
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Coproporphyria, Hereditary
Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Jaundice, Constipation, Hep... OMIM:121300
Folate Malabsorption, Hereditary
Leukopenia, Diarrhea, Malabsorption, Feeding difficulties in infancy, Failure to thrive, Thromboc... OMIM:229050
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Shigellosis
Bloody diarrhea, Tenesmus, Thrombocytopenia, Pneumonia, Acute colitis, Splenic abscess, Abscess, ... ORPHA:810
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Anorexi... OMIM:611590
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Heart block, Short neck, Hepatomegaly, Limited elbow extensio... ORPHA:175
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Inability to walk, Lumbar kyphosis, Hepatosplenomegaly, Hypertrophic cardiom... ORPHA:505248
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... OMIM:615617
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Immunodeficiency 31C
Recurrent vulvovaginal candidiasis, Osteomyelitis, Diarrhea, Bronchiectasis, Villous atrophy, Int... OMIM:614162
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Weight loss, Cachexia, Failure to thrive, Feeding difficulties OMIM:612075
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulat... OMIM:215250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Weight ... ORPHA:79078
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Helicobacte... ORPHA:2688
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia... OMIM:615214
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Decreased circulating complement factor B concentration, Decreased... ORPHA:2298
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Osteomyelitis, High palate, Bronchiectasis, Chronic oral candidiasis, Recurrent ... OMIM:618282
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:619436
Oculoskeletodental Syndrome
Thoracic kyphosis, Elbow flexion contracture, Hypocalcemia, Macroglossia, Lacunar stroke, Scolios... OMIM:618440
Solitary Rectal Ulcer Syndrome
Episodic abdominal pain, Anemia, Intermittent diarrhea, Bloody diarrhea, Rectal prolapse, Decreas... ORPHA:209964
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Chilblain Lupus
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ... ORPHA:90280
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Ri... OMIM:607765
Secondary Intestinal Lymphangiectasia