Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
TRAF family member-associated Nf-kappa B activator
Synonyms:
I-TRAF,  E430026L09Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tank mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 64
Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low B cells, Anti-... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Thrombocytopenia, Nephrotic syndrome, Smooth muscle ant... OMIM:603909
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... OMIM:610163
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... OMIM:619773
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... OMIM:308240
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... ORPHA:2137
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... ORPHA:3261
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... ORPHA:2442
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... OMIM:300635
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Decreased serum compleme... OMIM:613779
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Increased circulating IgA level, Pustule, Skin rash, Lympho... OMIM:615934
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymph... OMIM:609529
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive ... OMIM:617241
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Antinuclear antibody positivity, Inc... OMIM:617388
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune th... OMIM:304790
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG, Recurrent respiratory i... OMIM:613495
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... OMIM:616100
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
C1Q Deficiency
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... OMIM:613652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... ORPHA:276
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... ORPHA:91139
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... ORPHA:83313
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Macrophage Activation Syndrome
Hepatomegaly, Hemophagocytosis, Elevated circulating aspartate aminotransferase concentration, In... ORPHA:158061
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... ORPHA:562639
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Chilblain Lupus
Increased circulating antibody level, Asthma, Inflammatory abnormality of the skin, Discoid lupus... ORPHA:90280
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells,... OMIM:619802
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of t... ORPHA:99867
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuri... ORPHA:781
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atop... OMIM:243700
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity, Recurrent respiratory infections OMIM:137100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, Panhypogammaglobulinemia, T lympho... OMIM:601457
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Skin rash, Leukocytosis, Increased circulating IgM... OMIM:617099
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... ORPHA:567544
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Abnormality of the lymphatic system, A... ORPHA:47
Cystic Echinococcosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... ORPHA:400
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
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Immunodeficiency 23
Asthma, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eosinophilia, Increased ci... OMIM:615816
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Chronic bronchitis, Pneumonia OMIM:614069
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... ORPHA:572
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver ... ORPHA:37042
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Neutrophilia, Splenomegaly,... OMIM:260920
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Complement deficiency, Antinuclear antibody positiv... ORPHA:449400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytopenia, Increased circ... OMIM:242860
Primary Biliary Cholangitis
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Hepatic... ORPHA:186
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L... ORPHA:449395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Recurrent upper res... OMIM:602450
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Increased circulating IgM level, Neutrop... ORPHA:2688
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... ORPHA:70593
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hemophagocytosis, Abnormal renal physiology, Maculopapular exanthema, Erythroderma,... ORPHA:540
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
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, B lymphocytopenia, Red... OMIM:102700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... OMIM:614380
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent ... OMIM:619752
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, De... OMIM:619510
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Smooth muscle antibody positivity, Nodular pattern on pulmonary HRCT, Hepatosplenom... ORPHA:99931
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Recurrent upper respiratory tract infections, Autoimm... OMIM:608184
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Rhinorrhea, Pneumonia, Osteomyelitis, Chron... ORPHA:1163
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Chronic ... ORPHA:275
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, ... OMIM:178500
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomati... ORPHA:343
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa... OMIM:619644
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosple... OMIM:613101
Wiskott-Aldrich Syndrome
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula... ORPHA:29073
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Panhypogammaglobu... OMIM:615207
Brucellosis
Hepatomegaly, Rheumatoid factor positive, Myocarditis, Thrombocytopenia, Epididymitis, Pulmonary ... ORPHA:1304
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... ORPHA:48435
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... OMIM:615577
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Neutropenia, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Proteinuria, Acute ... OMIM:615008
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... OMIM:615139
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveola... OMIM:616414
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Nephrotic syndrome, Recurrent bronchopulmonary infections, Nephritis, Hepat... OMIM:617303
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent urinary tract i... OMIM:209920
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Antinu... OMIM:152700
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Hemophagocy... OMIM:301078
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... ORPHA:227990
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... ORPHA:169079
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, ... OMIM:616576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... OMIM:600802
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Non-caseating epithelioid cell granul... OMIM:607665
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Decreased serum complement factor B, Nephritis, Increased circulati... ORPHA:2298
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... OMIM:618108
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Common Variable Immunodeficiency
Bronchiectasis, Abnormality of the liver, Lymphopenia, Otitis media, Splenomegaly, Autoimmune thr... ORPHA:1572
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia OMIM:615214
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
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Increased circu... ORPHA:448237
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... OMIM:243150
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... ORPHA:227982
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Prolidase Deficiency
Increased circulating antibody level, Asthma, Systemic lupus erythematosus, Hepatomegaly, Splenom... OMIM:170100
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... OMIM:615952
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Sp... OMIM:613385
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Thrombocytopenia, Inc... ORPHA:79078
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
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Recurrent streptococcus pneumoniae inf... ORPHA:83471
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Arthritis, Pleuri... ORPHA:829
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... OMIM:608709
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet function, Abno... ORPHA:2585
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Abnormality of the ... ORPHA:284227
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Hypereosinophil... ORPHA:2902
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal center, Panhypogammaglobulinem... ORPHA:79124
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... OMIM:313900
Lassa Fever
Conjunctivitis, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Jaundice ORPHA:99824
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic... ORPHA:449432
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Cough, Ac... ORPHA:319218
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... OMIM:614379
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... OMIM:613913
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Abnormal lymphocyte physiology, Impaired ... ORPHA:1830
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Recurrent urinary tract infections, Panh... OMIM:307200
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Hemophagocytosis, Decreased glomerular filtration rate, Hepatic failu... ORPHA:470
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Endocarditis, Hematuria, Abno... ORPHA:549
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... OMIM:618042
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy ORPHA:100025
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... ORPHA:2571
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower respiratory ... ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:147060
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Mucopol... OMIM:215250
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:256020
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Osteomyelitis, Morbilliform... ORPHA:228123
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Rift Valley Fever
Skin rash, Increased circulating IgG level, Hematuria, Elevated hepatic transaminase, Hepatitis, ... ORPHA:319251
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 82 With Systemic Inflammation
Gastritis, B lymphocytopenia, Pneumonia, Decreased proportion of naive T cells, Colitis, Osteomye... OMIM:619381
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegal... OMIM:618999
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomega... OMIM:617591
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
C3 Glomerulopathy 3
Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:614809
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Hepatomegaly, Thrombocytopenia, Epididymitis, ... OMIM:256040
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... ORPHA:139402
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Complement Factor I Deficiency
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... OMIM:610984
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis, Abnormal abdomen morphology OMIM:219400
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Cryoglobulinemic Vasculitis
Viral hepatitis, Circulating immune complexes, Hepatomegaly, Splenomegaly, Cryoglobulinemia, Medi... ORPHA:91138
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Ly... OMIM:618935
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... ORPHA:391487
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Heavy proteinuria, Airway obstruction, Nephrotic syndrome, Decreased circul... ORPHA:505248
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Acute he... ORPHA:228426
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Anemia, Recurrent u... ORPHA:169105
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Macrocephaly/Autism Syndrome
Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia OMIM:605309
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... ORPHA:90362
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... OMIM:616740
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Eosinophilia, Increased... ORPHA:449427
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of t... OMIM:242700
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Peeling Skin Syndrome 1
Erythroderma, Asthma, Increased circulating IgE level, Eosinophilia OMIM:270300
Myeloma, Multiple
Paraproteinemia OMIM:254500
Lymphatic Filariasis
Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstruction, Lymphangiectasi... ORPHA:2035
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroder... ORPHA:3162
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level, Recurrent respiratory inf... DECIPHER:45
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, ... OMIM:615846
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... OMIM:618213
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating my... ORPHA:36234
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... OMIM:612301
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Avian Influenza
Respiratory distress, Pneumonia, Hypoxemia, Respiratory failure, Myelitis, Tachypnea, Increased c... ORPHA:454836
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... ORPHA:420741
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Leuk... ORPHA:77259
Felty Syndrome
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splenomegaly,... ORPHA:47612
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Cryoglobulinemia, Respiratory insufficiency, Normocytic anemia, Leuke... ORPHA:33226
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Pancreatitis, Decreased glomerular filtration rate, Nep... ORPHA:93126
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Anti-thyroid perox... ORPHA:64744
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Wilson Disease
Hepatomegaly, Splenomegaly, Anemia, Cirrhosis, Acute hepatic failure, Arthritis, Thrombocytopenia... ORPHA:905
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney diseas... OMIM:301006
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Hemoperitoneum, Neutrophilia, Hepatic failure, Hemothorax, Hematuria, Myocarditis, ... ORPHA:99827
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Pulmonary embolism, Abnormal glo... ORPHA:567548
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Thymic Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Cough, Autoimmunity, Dysgammaglobulinemia, D... ORPHA:100100
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Myelitis, Increased circulating IgG level, Abnormality of serum cytokin... ORPHA:297
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Whim Syndrome
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tra... ORPHA:51636
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneumonia, De... ORPHA:340
Myasthenia Gravis
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... ORPHA:589
Rasmussen Subacute Encephalitis
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Rheumatoid factor positive, Hematuria, Anti-thyroid peroxidase antibody pos... ORPHA:49041
Netherton Syndrome
Asthma, Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Incr... OMIM:256500
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Hepat... ORPHA:848
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... OMIM:619164
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Eosinophili... ORPHA:449563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulating a... OMIM:226300
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea, Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the l... OMIM:608809
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Paraproteinemia ORPHA:171442
Ataxia-Telangiectasia
Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, Lymphopenia, Hypopla... OMIM:208900
Alveolar Echinococcosis
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... ORPHA:284
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Immunodeficiency 17
Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T lymphocytopenia, Decreased... OMIM:615607
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Skin rash, Leukocytosis, Pancrea... ORPHA:99829
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Netherton Syndrome
Asthma, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ectopic kidney, H... ORPHA:634
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Elevated circulating alka... OMIM:620005
Spondyloenchondrodysplasia
Chronic kidney disease, Systemic lupus erythematosus, Skin rash, Juvenile rheumatoid arthritis, A... ORPHA:1855
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Brain abscess, Acute inf... ORPHA:31202
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Restrictive ve... OMIM:614376
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Decreased circulating IgG level, Hepatomegaly, 3-hydroxydicarbo... OMIM:613070
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Mogs-Cdg
Respiratory distress, Apnea, Decreased circulating IgA level, Decreased circulating IgG level, Pu... ORPHA:79330
Immunodeficiency 58
Eczema, Decreased specific antibody response to vaccination, Colitis, Chronic bronchitis, Esophag... OMIM:618131
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Hepatic failure, Hepatosp... ORPHA:158057
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Bloom Syndrome
Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, Abscess, Uveitis, Pneumonia... ORPHA:125
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... ORPHA:79303
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Graft Versus Host Disease
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, He... ORPHA:39812
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Neonatal Alloimmune Neutropenia
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Jaundic... ORPHA:464370
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Omenn Syndrome
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lymphocytopenia, B l... OMIM:603554
Japanese Encephalitis
Respiratory distress, Increased circulating antibody level, Pulmonary edema, Irregular respiratio... ORPHA:79139
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Autoimmunity, Dyspnea ORPHA:228312
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Splenomegaly, Thrombocytopenia, Reduced natural killer cell activity, P... OMIM:616050
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Agammaglobulinemia, Thr... OMIM:619693
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Systemic lupus erythematosus, Viral hepatitis, Periportal fi... ORPHA:101330
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hepatomegaly, Uveitis, Pancytopenia, Increased circulating antibody level, Splenom... OMIM:181000
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... OMIM:618852
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Mevalonic Aciduria
Fluctuating hepatomegaly, Skin rash, Fluctuating splenomegaly, Leukocytosis, Increased circulatin... OMIM:610377
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Leukocytosis, Hepatic failure, Leukopenia, Myocarditis, Cholesta... ORPHA:292
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Complement deficiency, Hematuria, Uveitis, Proteinuria, Inflamm... ORPHA:36412
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Eczema, Pancytopenia, Bone marrow hypocellularity, Lupus anticoagulant, Renal arter... OMIM:615688
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, R... OMIM:208085
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Splenomegaly, Cirrhosis, Respi... ORPHA:355
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Complement deficiency, Macroscopic hematuria, Pulmonary embolism, Focal s... ORPHA:567546
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... ORPHA:2552
Systemic Sclerosis
Anti-centromere antibody positivity, Chronic kidney disease, Osteomyelitis, Anti-topoisomerase I ... ORPHA:90291
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... OMIM:614576
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Cirrhosis, Decreased circulating total IgM, Chylous... ORPHA:90363
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Hemoglo... OMIM:194380
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Right vent... OMIM:613404
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Severe B lymphocytopenia, Autoimmune thrombocytopen... ORPHA:293978
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent sinopulmonary infections, Recurrent skin infections, Eosino... ORPHA:486
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis ORPHA:319552
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody level, Pulmonary ... ORPHA:586
Al Amyloidosis
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Elevated circulating alka... ORPHA:85443
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... OMIM:613470
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Idiopathic Achalasia
Wheezing, Bronchitis, Recurrent aspiration pneumonia, Cough ORPHA:930
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin... OMIM:611182
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, De... OMIM:616084
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,... ORPHA:91500
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Cough, Increased circulatin... ORPHA:2314
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Recur... OMIM:613327
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
Goodpasture Syndrome
Increased DLCO, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Glomerular crescent fo... OMIM:233450
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Gaucher Disease Type 3
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Hematuria, Abnormal pulmonary i... ORPHA:77261
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... OMIM:620040
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Impaired T cell function,... ORPHA:30
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... OMIM:618278
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG level, Hepatomegal... OMIM:212065
Aapoaiv Amyloidosis
Chronic kidney disease, Chronic pulmonary obstruction, Abnormal renal medulla morphology, Renal i... ORPHA:439232
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity, Hyperventilation, Urinary incontinence ORPHA:83600
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Nijmegen Breakage Syndrome
Sinusitis, Otitis media, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia... OMIM:251260
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... ORPHA:3226
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Abnormal renal tubule morphology, Cholestasis, Hypochromic microcytic ... ORPHA:440713
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Vici Syndrome
Renal tubular acidosis, Decreased circulating IgG level, Decreased circulating IgG2 level, Ureter... ORPHA:1493
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level OMIM:615190
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Decreased circulating IgA level, Hypospadias ORPHA:457485
Vici Syndrome
Decreased circulating IgG level, Left ventricular hypertrophy, Penile hypospadias, Decreased T ce... OMIM:242840
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma,... ORPHA:3260
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, Autoimmunit... ORPHA:169090
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Chro... ORPHA:231226
Pulmonary Alveolar Proteinosis, Acquired
Anti-granulocyte-macrophage colony stimulating factor antibody positivity, Intraalveolar phosphol... OMIM:610910
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... ORPHA:73263
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... OMIM:612387
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Mucopolysaccharidosis Type 7
Splenomegaly, Abnormal pleura morphology, Hepatitis, Mucopolysacchariduria, Ascites, Recurrent re... ORPHA:584
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Eczema, Macrocytic anemia, Iron deficiency anemia, Stomatitis, T... OMIM:212750
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233710
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... ORPHA:36238
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Neutropenia, Lymphopenia, Systemic lupus erythematosus, Juvenile rheumato... OMIM:607944
Poems Syndrome
Increased circulating antibody level, Polycythemia, Thrombocytosis, Visceromegaly, Ascites, Pleur... ORPHA:2905
Lead Poisoning
Renal tubular dysfunction, Asthma, Chronic kidney disease, Skin rash, Anemia, Abnormality of humo... ORPHA:330015
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... ORPHA:79128
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycystic kidney dysp... OMIM:610199
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Wilson Disease
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... OMIM:277900
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormality of the urinary system, Cough, Respiratory failure requiring ass... ORPHA:90117
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233690
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Anticardiolipin IgG a... ORPHA:64743
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Fusariosis
Keratitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Peritonitis, Arthritis, Fasciitis, ... ORPHA:228119
Gamma-Heavy Chain Disease
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia,... ORPHA:100026
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys... OMIM:613807
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlar... ORPHA:251004
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmun... ORPHA:85414
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Ren... OMIM:137940
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Sp... OMIM:619525
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Pancreatitis, Cholestasis, Hepatocellular ade... ORPHA:562
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Pneumonia, Micropenis OMIM:300209
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Complement Factor B Deficiency
Peritonitis, Decreased serum complement factor B, Pneumonia OMIM:615561
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Neutrope... OMIM:608233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thromboc... OMIM:603553
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:306400
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Keratoconjunctivitis, I... OMIM:269200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Abnormal renal m... ORPHA:449280
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Autoimmunity, H... ORPHA:436252
Cocaine Intoxication
Respiratory distress, Colitis, Pulmonary edema, Glomerulonephritis, Hematuria, Wheezing, Tachypne... ORPHA:90068
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Infection-Related Hemolytic Uremic Syndrome