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 With Lymphoproliferation
Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Defective T cell prolife... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R... OMIM:619220
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absenc... OMIM:613496
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... OMIM:618495
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... ORPHA:169154
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis med... OMIM:612783
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ... ORPHA:98813
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... OMIM:613495
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas... OMIM:615615
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Decreased circulating IgA lev... OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Lupus nephritis, Anti-dsDNA antibody positivit... OMIM:614420
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:329918
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec... OMIM:613779
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ... ORPHA:37748
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Lymphadenopath... ORPHA:444463
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Recurrent respiratory infections, Antiphospholipid antibody positivity, Increased circula... OMIM:615934
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni... OMIM:614470
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... OMIM:617388
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T... OMIM:304790
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Perinuclear a... OMIM:618394
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... ORPHA:83313
Macrophage Activation Syndrome
Decreased liver function, Increased circulating lactate dehydrogenase concentration, Splenomegaly... ORPHA:158061
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Bence Jones Proteinu... ORPHA:100024
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Abnormality of the kidney, Chronic lymphatic leukemia, Arthritis, Ab... ORPHA:91139
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of... OMIM:619281
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Abnormal circulating IgG level, Lymp... OMIM:616636
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch... ORPHA:562639
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Abnormality of complement system, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Immunodeficiency 97 With Autoinflammation
Increased circulating lactate dehydrogenase concentration, Granuloma, Splenomegaly, Lymphopenia, ... OMIM:619802
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ... ORPHA:859
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Sk... ORPHA:47
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulatin... OMIM:617099
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Antiphospholipid antibody pos... ORPHA:90280
Thymoma
Aplastic anemia, Glomerulonephritis, Myositis, Decreased circulating antibody level, Abnormal lym... ORPHA:99867
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:54370
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,... ORPHA:567544
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Elevated... ORPHA:400
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Decrea... ORPHA:572
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,... OMIM:260920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Elevated circulating hepatic transaminase co... ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Recurre... OMIM:614069
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Decreas... OMIM:242860
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Ne... OMIM:226990
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE l... OMIM:602450
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... ORPHA:411593
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul... OMIM:241600
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline p... ORPHA:186
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis,... OMIM:619652
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Complement Component 4A Deficiency
Reduced circulating CH50 activity, Glomerulonephritis, Decreased circulating complement C4 concen... OMIM:614380
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Arthritis, Skin rash, Sinusitis, Conjunct... ORPHA:33110
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ... OMIM:608184
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Recur... OMIM:619752
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocyt... OMIM:619644
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Abnormality of the... ORPHA:29073
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurre... OMIM:615207
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Tularemia
Cervical lymphadenopathy, Pneumonia, Anemia, Mediastinal lymphadenopathy, Increased circulating a... ORPHA:3392
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Increased circulating Ig... ORPHA:343
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E... OMIM:614878
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Postinfectious Vasculitis
Gastrointestinal inflammation, Hematuria, Increased circulating antibody level, Bacterial endocar... ORPHA:48435
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased ... OMIM:613101
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections, Recurrent ur... OMIM:209920
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Aspergillosis
Abnormality of the kidney, Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE lev... ORPHA:1163
Brucellosis
Bronchitis, Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveit... ORPHA:1304
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Recurrent lower respir... OMIM:615758
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Anti-thyroglobulin an... OMIM:615577
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Reticular pattern o... ORPHA:99931
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve... OMIM:618282
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pleuritis, Pericarditis, Nephritis, ... OMIM:152700
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau... OMIM:620376
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci... ORPHA:289390
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Skin rash, Biliary cirrhosis, E... ORPHA:2298
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Elevated circul... ORPHA:90003
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Elevated urinary inosi... OMIM:613179
Lipodystrophy, Partial, Acquired, Susceptibility To
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:608709
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Panhypogammaglobulinemia, Ascites, T lym... ORPHA:79124
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... OMIM:301081
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Eczematoid dermatitis, Hyperimidodipe... OMIM:170100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Pneumonia, Lymphadenopathy, Thyroiditis, Recurren... ORPHA:83471
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Autoimmunit... OMIM:613385
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil... OMIM:178500
Common Variable Immunodeficiency
Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphad... ORPHA:1572
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Recurrent lower respiratory trac... OMIM:617744
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Neutropenia, Abdominal adhesions, Lymphopenia OMIM:616395
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Arthritis, Crescentic glomerulonephritis, Hemosiderin... OMIM:616414
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephr... ORPHA:79078
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Erythema ... OMIM:615214
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G... OMIM:619858
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Recurrent lower respiratory tract infections, Increased circulating IgE level, Mega... OMIM:620603
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level, Myositis, Crohn's disease, Arthritis, Pust... ORPHA:69126
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Lysinuric Protein Intolerance
Argininuria, Elevated circulating hepatic transaminase concentration, Increased circulating antib... ORPHA:470
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Tempi Syndrome
Abnormality of the kidney, Abnormality of the pulmonary vasculature, Transudative pleural effusio... ORPHA:284227
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig... ORPHA:2571
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Immunodeficiency 11A
Recurrent respiratory infections, Decreased circulating antibody level, Reduced antigen-specific ... OMIM:615206
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Prostatitis, Increased circulating antibody level, Abnormal pancreas m... ORPHA:449432
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:613913
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Decre... OMIM:614379
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Leukopenia, Thrombocytopenia, Lymphopen... ORPHA:319218
Lassa Fever
Oliguria, Increased circulating IgM level, Jaundice, Conjunctivitis ORPHA:99824
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple... OMIM:618042
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno... ORPHA:911
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Recurrent p... ORPHA:549
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Pr... OMIM:215250
Immunodeficiency 9
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ... OMIM:612782
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Re... OMIM:256040
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans... OMIM:301045
Immunodeficiency 15B
Chronic oral candidiasis, Monocytosis, Decreased circulating antibody level, Agammaglobulinemia, ... OMIM:615592
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Decreased circulating to... OMIM:619381
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu... ORPHA:2902
Rift Valley Fever
Jaundice, Anemia, Hematuria, Elevated circulating hepatic transaminase concentration, Increased c... ORPHA:319251
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... OMIM:617780
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Panniculitis, Myosit... OMIM:617591
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Coccidioidomycosis
Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Abnormality of the kidne... ORPHA:228123
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... ORPHA:48377
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu... ORPHA:139402
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Circulating immune complexe... ORPHA:91138
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Thyroiditis, Renal artery stenosis, Renovascular hypertension, Hepatosplenomegaly, A... ORPHA:391487
C1Q Deficiency 2
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Decrea... OMIM:620321
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Abnormality of the tonsils, Abnormality o... ORPHA:229717
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Emphysema, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon... OMIM:618999
Pneumocystosis
Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ... ORPHA:723
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Pancytopenia, Neutropenia in pres... ORPHA:228426
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu... OMIM:242700
Immunodeficiency 40
Chronic oral candidiasis, Hepatomegaly, Macrovesicular hepatic steatosis, Recurrent otitis media,... OMIM:616433
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Decreased circulating complement C3 concentrat... OMIM:620514
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig... DECIPHER:45
Myeloma, Multiple
Paraproteinemia OMIM:254500
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infec... ORPHA:169105
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf... OMIM:615846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Decreased circulating IgG level, Increased circulati... ORPHA:505248
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase... ORPHA:178320
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, B lymphocytop... OMIM:601495
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lymphadenopathy, Lupus n... ORPHA:536
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ... ORPHA:449427
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopen... OMIM:275350
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Circulating immune compl... ORPHA:2035
Gaucher Disease Type 1
Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Pancytopenia, Splenic in... ORPHA:77259
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circul... ORPHA:70578
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level OMIM:270300
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... OMIM:208900
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum... ORPHA:36234
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxid... ORPHA:64744
Netherton Syndrome
Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I... OMIM:256500
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Neutrop... ORPHA:47612
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Skin rash, Re... OMIM:619374
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis... ORPHA:51636
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat... ORPHA:297
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo... ORPHA:1929
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas... OMIM:612301
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory tract infectio... ORPHA:656
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Pleural effusion, Cryoglobulinemia, Splenomegal... ORPHA:33226
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... ORPHA:98848
Pauci-Immune Glomerulonephritis
Acute kidney injury, Abnormality of the pulmonary vasculature, Pancreatitis, Decreased glomerular... ORPHA:93126
Crimean-Congo Hemorrhagic Fever
Ascites, Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Ery... ORPHA:99827
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Generalized lymphadenopathy, Arthritis, Enuresis noct... ORPHA:420741
Yellow Fever
Acute kidney injury, Jaundice, Increased circulating interleukin 6 concentration, Skin rash, Anur... ORPHA:99829
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Psoriasiform... ORPHA:49041
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Lymphadenopathy, Hematuria, Elev... OMIM:614034
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Pure red cell apla... ORPHA:589
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Hematuria, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA a... ORPHA:1855
Caffey Disease
Increased circulating antibody level ORPHA:1310
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Thyroiditis, ... ORPHA:449563
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Pneumonia, Pulmonary edema, Anemia, Increased circulating interleukin 6 conc... ORPHA:340
Netherton Syndrome
Emphysema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level,... ORPHA:634
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:79303
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... OMIM:618752
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Decreased lymphocyte proliferation in ... ORPHA:221139
Melioidosis
Lung abscess, Pneumonia, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelit... ORPHA:31202
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula... OMIM:613070
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:355
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... ORPHA:3243
Alveolar Echinococcosis
Decreased liver function, Jaundice, Anemia, Cholangitis, Increased circulating antibody level, Li... ORPHA:284
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Avian Influenza
Pneumothorax, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myeli... ORPHA:454836
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Antineutrophil antibod... ORPHA:464370
Bloom Syndrome
Cheilitis, Acute myeloid leukemia, Recurrent tonsillitis, Abnormal proportion of CD8-positive T c... ORPHA:125
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni... OMIM:614376
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepati... OMIM:610377
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ... OMIM:616050
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Interstitial Cystitis
Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the... ORPHA:37202
Mogs-Cdg
Pulmonary edema, Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG le... ORPHA:79330
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Microlissencephaly
Pneumonia ORPHA:1083
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin... OMIM:208085
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis ORPHA:319552
Japanese Encephalitis
Pulmonary edema, Increased circulating antibody level, Increased circulating IgM level, Neutrophi... ORPHA:79139
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Hypospadias, Partial absence of specific... ORPHA:79324
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Microsporidiosis
Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio... ORPHA:2552
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating antibody level, Reduced tissue mannosyl-oligosaccharide gluco... OMIM:606056
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Pleural effusion, Chylous ascites, Lymphopenia, ... ORPHA:90363
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Recu... OMIM:150550
Tafro Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Lymphadenopathy, Anemia, Elevate... ORPHA:457077
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ... OMIM:615688
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati... ORPHA:292
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pleural effusion, Ascites, Focal segmental glomerulosclerosis,... ORPHA:567546
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep... OMIM:613404
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... OMIM:615387
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Systemic Sclerosis
Anti-RNA-polymerase-III-autoantibody positivity, Myocarditis, Abnormality of the kidney, Acute ki... ORPHA:90291
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Unilateral renal ... OMIM:614576
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Pneumonia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis,... ORPHA:486
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte... OMIM:620005
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Macrocephaly/Autism Syndrome
Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Lymphop... OMIM:605309
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tr... OMIM:607143
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Increased ... OMIM:181000
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Increased circulating antibody level, Normochromic anemia, Dec... ORPHA:91500
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent pneumonia, Splen... OMIM:613327
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Increased circulating IgE level, Skin rash, Eczematoid dermati... ORPHA:2314
Bloom Syndrome
Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Recurrent upper respiratory... OMIM:210900
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Inflammatory abnormality of ... ORPHA:36412
Immunodeficiency 13
Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, T lymph... OMIM:615518
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Impaired T cell function, Abnormality of the ureter, Orotic acid crystall... ORPHA:30
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte morpholo... ORPHA:293978
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... ORPHA:85410
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Arthritis, Rheumatoid factor positive, Synovitis, Abnormal circulating i... ORPHA:85435
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytosis, Proximal t... OMIM:212065
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia, Colitis OMIM:615190
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par... ORPHA:439232
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:620040
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Al Amyloidosis
Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c... ORPHA:85443
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... OMIM:104200
Mucopolysaccharidosis Type 7
Ascites, Mucopolysacchariduria, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory i... ORPHA:584
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ... ORPHA:77261
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Abnormal renal tubule morphology, Anemia, Hypochromic microcytic anemi... ORPHA:440713
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Recurrent aphthous stomatitis, Iron defi... OMIM:212750
Vici Syndrome
Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Recurrent respiratory ... ORPHA:1493
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Antinuclear antibody positiv... ORPHA:85436
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Bronchiectasis, Autoimmunity, Bronchiolitis obliterans ORPHA:1303
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatomegaly, Recurrent otitis media, Elevated circulating hepatic tran... OMIM:614921
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Increased circulating IgE level, Hypoplasia of penis ORPHA:3409
Zygomycosis
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a... ORPHA:73263
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly, Homocitrullinuria OMIM:238970
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,... OMIM:603554
Poems Syndrome
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Visceromegaly, Ascites, Pleu... ORPHA:2905
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Leukocytos... OMIM:618278
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Encephalitis Lethargica
Autoimmunity, Urinary incontinence, Increased circulating antibody level ORPHA:83600
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Anti-smooth muscle antibody positivity, A... ORPHA:64743
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Pneumonia, A... ORPHA:169090
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233710
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Pulmonary lymphangiectasia, Chronic kidney disease, Membran... OMIM:137940
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthri... OMIM:607944
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Hypospadias ORPHA:457485
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit... ORPHA:3260
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Skin rash, Tubulointerstitia... ORPHA:330015
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Anemia, Reticular pattern on pulmonary HRC... OMIM:233450
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233690
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Acute kidney injury, Pulmonary edema, Increased circ... ORPHA:542323
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula... OMIM:603553
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera... ORPHA:251004
Aregenerative Anemia
Lymphadenopathy, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Recurrent otitis media, Elevated circulating hepatic transaminase concentra... OMIM:619525
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Bone ma... ORPHA:562
Fusariosis