banner
Genes Phenotypes Help, News, Blog

Gene: Tank MGI:107676

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... OMIM:617006
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A... ORPHA:397596
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 27A
Pneumonia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukoc... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... ORPHA:169154
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... OMIM:613495
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity, Recurrent sinopulm... OMIM:609529
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen... ORPHA:277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... OMIM:617241
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... OMIM:618944
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Sting-Associated Vasculopathy, Infantile-Onset
Rheumatoid factor positive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperp... OMIM:615934
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly, Increase... ORPHA:37748
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly, Follicular ... OMIM:614470
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear antibody positivity, Pu... OMIM:617388
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity, Recurrent respiratory infections OMIM:137100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... OMIM:613652
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re... ORPHA:83313
Macrophage Activation Syndrome
Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con... ORPHA:158061
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Abnormal lung morphology, Paraproteinemia, Re... ORPHA:91139
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... ORPHA:562639
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, 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
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... ORPHA:331206
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea... ORPHA:859
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmu... ORPHA:47
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci... OMIM:617099
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Reduced circulating complement concentration, Abnormal glomerular mesangium ... ORPHA:567544
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ... OMIM:243700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po... ORPHA:781
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... OMIM:615767
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Immunodeficiency 23
Allergic rhinitis, Rheumatoid factor positive, Eczematoid dermatitis, Chronic mucocutaneous candi... OMIM:615816
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... ORPHA:572
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated urine mevaloni... OMIM:260920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ... ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,... OMIM:242860
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Ane... OMIM:226990
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased... ORPHA:449395
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Primary Biliary Cholangitis
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Hepatic failure, H... ORPHA:186
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... OMIM:614380
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ... ORPHA:33110
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
Multiple Myeloma
Nephropathy, Nephrotic syndrome, Acute kidney injury, Pleural effusion, Splenomegaly, Abnormality... ORPHA:29073
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... OMIM:193670
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Art... ORPHA:343
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent respiratory infections, Increased circulating IgE level, ... ORPHA:217390
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay... OMIM:301000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,... OMIM:619774
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou... ORPHA:275
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Ascites, Decreased... OMIM:615758
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227990
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrh... ORPHA:99931
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... OMIM:615577
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, ... OMIM:617303
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... OMIM:618282
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Pleuritis, Antinuclear antibody ... OMIM:152700
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... OMIM:301078
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I... OMIM:620376
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I... ORPHA:289390
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Autoimmunity, Interface hepatitis, Autoimm... OMIM:243150
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,... ORPHA:2298
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly... OMIM:620632
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227982
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas... ORPHA:90003
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate, Re... OMIM:613179
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy... OMIM:608709
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Zika Virus Disease
Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Thrombocytopeni... ORPHA:448237
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A... ORPHA:79124
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as... OMIM:170100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro... ORPHA:507
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Recu... ORPHA:83471
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Portal hypertension, Spl... OMIM:613385
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... OMIM:178500
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Emphysema, Ly... ORPHA:1572
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia OMIM:616395
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... OMIM:616414
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno... ORPHA:2585
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev... ORPHA:69126
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Rec... OMIM:307200
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased circulating anti... ORPHA:470
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... ORPHA:169079
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... ORPHA:284227
X-Linked Immunoneurologic Disorder
Abnormal pleura morphology, Functional abnormality of the bladder, Decreased circulating IgG2 lev... ORPHA:2571
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Schimke Immuno-Osseous Dysplasia
Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom... ORPHA:1830
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con... ORPHA:449432
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c... OMIM:613913
Thrombocytopenia 1
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... OMIM:313900
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... OMIM:614379
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity ORPHA:90159
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul... ORPHA:319218
Lassa Fever
Conjunctivitis, Jaundice, Increased circulating IgM level, Oliguria ORPHA:99824
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Legionnaires Disease
Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura mo... ORPHA:549
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno... OMIM:215250
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... OMIM:612782
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc... OMIM:256040
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... OMIM:619381
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,... ORPHA:2902
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... OMIM:610984
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... OMIM:617780
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, In... OMIM:617591
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu... ORPHA:228123
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinu... ORPHA:91138
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis OMIM:616069
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Eczemat... OMIM:618935
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Extractable nuclear antigen ... OMIM:620321
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... ORPHA:391487
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmunity, Otitis... ORPHA:229717
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, 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
Hepatic failure, Hepatitis, Bronchitis, Cholestasis, Emphysema, Panniculitis, Jaundice, Cirrhosis... ORPHA:60
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre... OMIM:618116
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu... ORPHA:723
Immunodeficiency 46
Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Anemia, Intermittent thrombocyto... OMIM:616740
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph... ORPHA:90362
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a... OMIM:618213
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto... ORPHA:228426
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop... OMIM:620514
Xq28 (MECP2) duplication
Decreased circulating IgA level, Functional abnormality of the bladder, Recurrent respiratory inf... DECIPHER:45
Myeloma, Multiple
Paraproteinemia OMIM:254500
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf... ORPHA:169105
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Hepatic steatosis, Spl... OMIM:615846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Conjunctivitis, Heparan sulfate exc... ORPHA:505248
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ... ORPHA:178320
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... OMIM:601495
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Cheilitis, Anti-La/SS-B antibody positivi... ORPHA:536
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Decreased circulating IgA level, Pancyto... OMIM:275350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Increased circ... ORPHA:158057
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Lymphatic Filariasis
Urethral obstruction, Abnormal lung morphology, Lymphadenitis, Hypereosinophilia, Abnormality of ... ORPHA:2035
Gaucher Disease Type 1
Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increased circulating antibody level, Hematuria,... ORPHA:77259
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Myosi... ORPHA:36234
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Sclerosin... ORPHA:64744
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Decreased ... OMIM:615607
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... ORPHA:51636
Tick-Borne Encephalitis
Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal circulati... ORPHA:297
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency, Splenomegaly, Pl... ORPHA:33226
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... ORPHA:99827
Yellow Fever
Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating aspartate aminotransfer... ORPHA:99829
Riddle Syndrome
Enuresis nocturna, Decreased circulating IgG level, Pneumonia, Recurrent pneumonia, Bronchitis, D... ORPHA:420741
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Systemic lupus erythematosus, Anti-acetylcholine rec... ORPHA:589
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration... OMIM:614034
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... ORPHA:1855
Caffey Disease
Increased circulating antibody level ORPHA:1310
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve... ORPHA:449563
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr... ORPHA:340
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Skin rash, Hydr... ORPHA:634
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr... OMIM:618752
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Anemia, Eosi... ORPHA:39041
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Decreased lymphocyte proliferation in response to mitogen, Reduced nat... ORPHA:221139
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis, Abnormalit... ORPHA:31202
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Dicarbo... OMIM:613070
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk... ORPHA:355
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter... ORPHA:284
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
Avian Influenza
Pneumonia, Acute kidney injury, Myelitis, Increased circulating lactate dehydrogenase concentrati... ORPHA:454836
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Bronchitis, Recurre... ORPHA:125
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Skin ... OMIM:616050
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ... OMIM:614376
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:610377
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal... ORPHA:79330
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... OMIM:618131
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, El... OMIM:208085
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Japanese Encephalitis
Infectious encephalitis, Pulmonary edema, Increased circulating antibody level, Neutrophilia, Inc... ORPHA:79139
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Alg12-Cdg
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Abnormal circulatin... ORPHA:79324
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Ple... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Iib
Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, R... OMIM:606056
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Renal ins... ORPHA:457077
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth... OMIM:615688
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As... ORPHA:567546
Congenital Enterovirus Infection
Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop... ORPHA:292
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... OMIM:613404
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Anti-centromere antibody positivity, Pulmonary fibro... ORPHA:90291
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... OMIM:614576
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lymphopenia, Recur... ORPHA:486
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Renal hypoplasia, Severe B lymphocytopenia, He... 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
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Decreased circ... OMIM:605309
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Tubulointerstitial nephritis, Aminoaciduria, Bet... ORPHA:91500
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal pulmonary interstitial morphology, Emphysema, Pancy... OMIM:181000
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati... OMIM:613327
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eo... ORPHA:2314
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease... OMIM:210900
Hypocomplementemic Urticarial Vasculitis
Ascites, Reduced circulating complement concentration, Emphysema, Autoimmunity, Renal insufficien... ORPHA:36412
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho... OMIM:615518
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Abnorm... ORPHA:293978
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Proteinuria, Glomerular sclerosis, Ab... ORPHA:439232
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... OMIM:616084
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh... ORPHA:85435
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hep... OMIM:212065
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis OMIM:615190
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Al Amyloidosis
Howell-Jolly bodies, Abnormal pulmonary interstitial morphology, Abnormality of the liver, Renal ... ORPHA:85443
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Anemia,... ORPHA:77261
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re... ORPHA:584
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno... ORPHA:440713
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Decreased circula... OMIM:212750
Vici Syndrome
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Ureter... ORPHA:1493
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor... ORPHA:85436
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Renal insufficiency, Pleural effu... ORPHA:73263
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Decreased liver function, Homocitrullinuria OMIM:238970
Poems Syndrome
Visceromegaly, Polycythemia, Ascites, Pleural effusion, Splenomegaly, Increased circulating antib... ORPHA:2905
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Hepato... OMIM:618278
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadeno... OMIM:603554
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Encephalitis Lethargica
Urinary incontinence, Autoimmunity, Increased circulating antibody level ORPHA:83600
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic... ORPHA:169090
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Hypospadias ORPHA:457485
Lead Poisoning
Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas... ORPHA:330015
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti... OMIM:233450
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi... ORPHA:3260
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:214950
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Acute kidney injury, Elevated circulating hepatic... ORPHA:542323
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... OMIM:619525
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Mccune-Albright Syndrome
Renal phosphate wasting, Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Hyper... ORPHA:562
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Granuloma, Osteom... ORPHA:228119
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly... ORPHA:85414
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Granuloma, Eczematoid dermatitis, Atelect... OMIM:306400
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor... OMIM:612387
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... OMIM:615508
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune hemol... OMIM:251260
Immunodeficiency 31C
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Chronic mucocu... OMIM:614162
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:614868
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Autoimmunity, Psoriasifo... ORPHA:436252
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis OMIM:615561
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... OMIM:269200
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Wilson Disease
Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas... OMIM:277900
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... OMIM:615482
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hepatitis, Autoimmunity, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia ORPHA:199299
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Acute kidney injury, Oliguria, Brain abs... ORPHA:544482
Scleromyxedema
Paraproteinemia, Abnormal pulmonary artery morphology, Abnormal lung morphology, Abnormality of t... ORPHA:167635
Chronic Mucocutaneous Candidiasis
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Recurrent respiratory infect... ORPHA:1334
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Hepatic failure, Elev... ORPHA:567983
Kawasaki Disease
Hepatitis, Sterile pyuria, Conjunctivitis, Cervical lymphadenopathy, Abnormal pulmonary interstit... ORPHA:2331
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoco... OMIM:240300
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Lymphopenia... OMIM:242840
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Elevated circulating alkaline phospha... OMIM:618162
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Subpleural interstitial thickening, ... ORPHA:79128
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ... ORPHA:36238
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Lichen Planopilaris
Hepatitis ORPHA:525
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Abnormal lung lobation, Decreased circulatin... ORPHA:369837
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase con... ORPHA:90068
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Renal insu... ORPHA:728
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Reduc... ORPHA:79329
Acute Disseminated Encephalomyelitis
Myelitis, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glycoprotein a... ORPHA:83597
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage co... OMIM:610910
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Decreased circulating Ig... OMIM:223370
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Panhypogammaglobulinemi... ORPHA:84064
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Abnormal renal morphology, Arthralgia/arthritis, Sinusitis,... ORPHA:449280
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... ORPHA:238459
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Shigellosis
Pneumonia, Acute kidney injury, Uveitis, Hepatic failure, Microangiopathic hemolytic anemia, Ulce... ORPHA:810
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicouretera... OMIM:603467
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Aspiration pneumonia ORPHA:90117
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:69665
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent ... OMIM:613807
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Hennekam Syndrome
Chylothorax, Erysipelas, Horseshoe kidney, Lymphopenia, Ascites, Lymphangioma, Splenomegaly, Lymp... ORPHA:2136
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundi... ORPHA:499009
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... ORPHA:158048
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... OMIM:620296
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chro... OMIM:244400
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Elevated circulating hepatic transaminase concent... ORPHA:99826
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regenerative hype... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity ORPHA:2590
Leptospirosis
Acute kidney injury, Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Eleva... ORPHA:509
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic ve... ORPHA:662
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Superfici... ORPHA:83617
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... ORPHA:3132
Cryptococcosis
Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Pleural effusion, Nodular p... ORPHA:1546
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Listeriosis
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Peritoni... ORPHA:533
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Pulmonary cyst, Recurrent upper respiratory tract infections, Increased hepa... OMIM:147060
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Renal in... OMIM:203800
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Oligosacchariduria ORPHA:309288
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Autoimmune antibody positivity, Acute infectious pneumonia ORPHA:264675
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Monosomy 18Q
Micropenis, Decreased circulating IgA level ORPHA:1600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Lujo Hemorrhagic Fever
Oliguria, Increased circulating lactate dehydrogenase concentration, Elevated circulating hepatic... ORPHA:319213
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Keratoconjunctivitis sicca, Erythroderma OMIM:601675
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Cholestasi... OMIM:620233
Mirage Syndrome
Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, ... OMIM:617053
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Reynolds Syndrome
Biliary cirrhosis, Anti-centromere antibody positivity, Elevated circulating hepatic transaminase... OMIM:613471
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmona... ORPHA:97287
Timothy Syndrome
Cardiomegaly, Pneumonia, Bronchitis OMIM:601005
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia, Pleural effusion, Recurrent skin in... ORPHA:90186
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Viss Syndrome
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Increased circulating IgE le... OMIM:619472
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia ORPHA:79264
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Organic aciduria, Aspiration pneumonia, Renal tubular acidosis, Pancreatitis, Decreased activity ... ORPHA:431361
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hematuria, Keratoconjunctiviti... OMIM:158310
Alström Syndrome
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste... ORPHA:64
Nocardiosis
Pneumonia, Brain abscess, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, ... ORPHA:31204
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... ORPHA:1018
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Increased circulating IgE level, Splenome... ORPHA:373
Roifman-Chitayat Syndrome
Pneumonia, Ectopic kidney, Arthritis OMIM:613328
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatoce... ORPHA:90062
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Decreased beta-galactosidase activity, In... ORPHA:354
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... OMIM:619991
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Severe Acute Respiratory Syndrome
Acute kidney injury, Acute infectious pneumonia ORPHA:140896
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Abnormal medullary pyramid morphology ORPHA:79243
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Right ventricular hypertrophy OMIM:253700
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... OMIM:215600
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Hepatomegaly, Tubul... ORPHA:797
Congenital Multicore Myopathy With External Ophthalmoplegia
Micropenis, Recurrent respiratory infections, Pneumonia ORPHA:98905
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Occipital Horn Syndrome
Hepatitis, Recurrent urinary tract infections, Cholestasis, Esophagitis, Bladder diverticulum, Ja... ORPHA:198
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:26793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Chops Syndrome
Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Anomalous pulmonary ... OMIM:616368
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Urinary reten... ORPHA:79404
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Aspiration pneumonia, Left ventricular hypertrophy, Lacticaciduria, Hepatomegaly OMIM:619167
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Systemic lupus erythematosus, Hyperspl... ORPHA:77293
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Decreased beta-gal... ORPHA:79255
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu... OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ... OMIM:301072
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Recurrent aspiration pneumonia OMIM:230900
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Heparan sulfate excretion in urine, Urinary glycosam... ORPHA:581
Mucopolysaccharidosis, Type Vi
Reduced leukocyte arylsulfatase B activity, Pneumonia, Recurrent upper respiratory tract infectio... OMIM:253200
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Neuroleptic Malignant Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:94093
Degcags Syndrome
Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h... OMIM:619488
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia ORPHA:35069
Alpha-Mannosidosis, Infantile Form
Pneumonia, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopen... ORPHA:309282
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic hemangioma, Penile hypospadias, ... ORPHA:73230
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... OMIM:219700
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Hypere... ORPHA:397715
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of... ORPHA:95455
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Intrarenal abscess, Respiratory tract infec... ORPHA:68
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Niemann-Pick Disease Type C
Fetal ascites, Hepatic failure, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... ORPHA:646
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Inflamm... ORPHA:707
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Aspiration pneumonia ORPHA:173
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia OMIM:617809
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis ORPHA:330021
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Bickerstaff Brainstem Encephalitis
Pneumonia, Autoimmune antibody positivity, Respiratory tract infection ORPHA:79138
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Unilateral renal agenesis, Horseshoe kidney, Emphysema, Secretor... ORPHA:500150
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Jaundice ORPHA:90790
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia ORPHA:845
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia OMIM:602535
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Urinary urgency, Urinary retention, Aspiration pneumonia ORPHA:99027
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Horseshoe kidney, Hepatoblast... ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral ... ORPHA:353281
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Enlarged ovaries, Recur... ORPHA:2745
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Abnormality of humoral immunity, Septic arthritis, Fasciitis, Osteomyelit... ORPHA:642
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia, Pelvic kidney OMIM:247200
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Long penis, Hypoplasia of the thymus, Recurrent respiratory infections, Hypospadias OMIM:264090
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral ... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Horseshoe kidney, Vesicoureteral reflux, Hypospadias, Aspiration pneumonia ORPHA:444077
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent otitis media, Hyd... OMIM:616268
Kabuki Syndrome 1
Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydronep... OMIM:147920
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Anemia ORPHA:438213
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, ... ORPHA:79318
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Aspiration pneumonia OMIM:619482
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Pneumothorax, Micropenis, Recurrent aspiration pneumonia, Pulmonary... OMIM:612289
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Yunis-Varon Syndrome
Micropenis, Hypospadias, Aspiration pneumonia OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tank

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tank.

No publications found that use IMPC mice or data for Tank.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tanktm39969(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tanktm39336(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter