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Gene: Timd4 MGI:2445125

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

T cell immunoglobulin and mucin domain containing 4

Synonyms:

B430010N18Rik, TIM-4, Tim4

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 Timd4 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.

Human diseases associated with Timd4 (0 diseases)
Human diseases predicted to be associated with Timd4 (433 diseases)

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

The table below shows human diseases predicted to be associated to Timd4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Autoimmune Lymphoproliferative Syndrome	Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,...	OMIM:601859
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-...	OMIM:618534
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity	OMIM:609529
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased circ...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,...	OMIM:603909
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Proteasome-Associated Autoinflammatory Syndrome 2	Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor...	OMIM:618048
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:613502
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, In...	OMIM:612783
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir...	OMIM:618944
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,...	OMIM:613493
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Inclusion Body Myositis	Autoimmunity, Elevated circulating creatine kinase concentration	ORPHA:611
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM	OMIM:613500
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre...	ORPHA:169154
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmune antibody pos...	ORPHA:555905
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c...	OMIM:300400
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level, Antinuclear antibody positivity...	OMIM:617388
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Chilblain Lupus	Systemic lupus erythematosus, Increased circulating antibody level, Antinuclear antibody positivi...	ORPHA:90280
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:612692
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Autoi...	OMIM:240500
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia	OMIM:618495
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Sting-Associated Vasculopathy, Infantile-Onset	Cytoplasmic antineutrophil antibody positivity, Antiphospholipid antibody positivity, Antinuclear...	OMIM:615934
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Antinuclear antibody positivity	ORPHA:90159
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev...	ORPHA:3261
Immunodeficiency 52	Autoimmune thrombocytopenia, Decreased circulating IgA level, Defective T cell proliferation, Dec...	OMIM:617514
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ...	ORPHA:74
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Neutr...	OMIM:607594
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:618394
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Autoim...	ORPHA:277
Kimura Disease	Increased circulating IgE level	ORPHA:482
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ...	ORPHA:90060
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Autoimmunity, C3 nephritic factor...	ORPHA:329918
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Anti-thyroglobulin antibody positivity, Decreased circulating Ig...	OMIM:615577
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid...	ORPHA:275
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Inflammatory Pseudotumor Of The Liver	Autoimmune antibody positivity, Increased hepatitis B virus antibody level	ORPHA:90003
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Au...	OMIM:616100
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Pgm3-Cdg	Bone marrow hypocellularity, Increased circulating IgE level, Autoimmunity, Increased circulating...	ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia	OMIM:608184
Autoimmune Lymphoproliferative Syndrome, Type Iii	Anticardiolipin IgG antibody positivity, Autoimmunity, Autoimmune hemolytic anemia, Increased cir...	OMIM:615559
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:331206
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Increased circulating IgA level, Autoimmune thrombocytopenia, Au...	OMIM:620565
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi...	ORPHA:540
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f...	ORPHA:158061
Autoimmune Hepatitis	Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr...	ORPHA:2137
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Anti-glutamic acid decarboxylase antibody positivity, Reduced C-peptide ...	OMIM:610582
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level, Autoimmune thrombocytopenia	OMIM:619846
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased circula...	OMIM:615758
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level...	OMIM:616005
Interstitial Granulomatous Dermatitis With Arthritis	Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po...	ORPHA:79099
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u...	OMIM:620632
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level	ORPHA:397596
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Autoimmunity	OMIM:617006
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na...	OMIM:619802
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level, Lymphadenitis	OMIM:260920
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Systemic lupus erythematosus, Autoimmuni...	ORPHA:2298
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:169160
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619752
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Anti-liver cytosolic antigen type 1 antibody positivity, Antinuclear antibody positivity, Anti-sm...	ORPHA:562639
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Primary Biliary Cholangitis	Autoimmunity, Antinuclear antibody positivity, Increased circulating IgA level, Increased circula...	ORPHA:186
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, A...	ORPHA:79078
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Preeclampsia	Elevated circulating creatinine concentration, Autoimmunity	ORPHA:275555
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen...	OMIM:226990
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Autoimmunity	OMIM:222100
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:620532
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Au...	ORPHA:436159
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Antinuclear antibody positivity, Decreased cir...	OMIM:620514
Maturity-Onset Diabetes Of The Young, Type 13	Elevated hemoglobin A1c, Anti-glutamic acid decarboxylase antibody positivity, Reduced C-peptide ...	OMIM:616329
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ...	OMIM:301000
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Pyoderma Gangrenosum	Rheumatoid arthritis, Increased circulating antibody level	ORPHA:48104
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating antibody level, Cytoplasmic antineutrophil...	ORPHA:48435
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Igg4-Related Retroperitoneal Fibrosis	Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Elevated ...	ORPHA:49041
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612782
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Increased circulating IgG level, Autoimmunity, Decreased circula...	OMIM:243700
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Lymphocytosis	ORPHA:79087
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmunity, Systemic lupus erythematosus, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Igg4-Related Thyroid Disease	Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto...	ORPHA:64744
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Sweet Syndrome	Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L...	ORPHA:3243
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Autoimmunity, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A...	ORPHA:178320
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Autoimmunity	ORPHA:2902
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Prolidase Deficiency	Systemic lupus erythematosus, Increased circulating antibody level	OMIM:170100
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:614700
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Systemic-Onset Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Autoimmunity, Juvenile rheumatoid arthritis	ORPHA:85414
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration	OMIM:615010
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve...	OMIM:102700
Myasthenia, Limb-Girdle, Autoimmune	Hashimoto thyroiditis, Mildly elevated creatine kinase, Systemic lupus erythematosus	OMIM:159400
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune...	OMIM:304790
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Systemic lupus erythematosus, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune...	ORPHA:760
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hashimoto thyroiditis, Decreased circulating IgA level, Autoimmunity	OMIM:613385
Tularemia	Increased circulating antibody level	ORPHA:3392
Alopecia Universalis	Autoimmunity, Abnormal circulating lipid concentration	ORPHA:701
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level	ORPHA:83600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr...	ORPHA:183675
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons...	OMIM:600802
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid factor positive	ORPHA:85435
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Abnormal circ...	OMIM:620376
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating IgA level, Autoimmunity, Decreased circul...	ORPHA:90363
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Immunodeficiency 17	Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit...	OMIM:615607
Q Fever	Anticardiolipin IgG antibody positivity, Antimitochondrial antibody positivity, Increased circula...	ORPHA:781
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra...	ORPHA:85450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre...	ORPHA:221139
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc...	ORPHA:449395
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Antinuclear antibody positivity, Cytoplasmic antin...	ORPHA:93126
Selective Igm Deficiency	Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Paraproteinemia, Autoimmunity,...	ORPHA:331235
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:911
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis	ORPHA:319552
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t...	OMIM:300972
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level	ORPHA:319218
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Lymphadenitis	ORPHA:449427
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio...	OMIM:208900
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ...	OMIM:613179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Increased circulating i...	ORPHA:457077
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity	ORPHA:363558
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in...	ORPHA:79124
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,...	ORPHA:1304
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	OMIM:617591
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level	OMIM:212750
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Scleromyxedema	Paraproteinemia	ORPHA:167635
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level	ORPHA:2314
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Autoimmunity, Autoimmune hemolytic anemia, Anti-liver cytosolic ...	ORPHA:37042
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion	ORPHA:37202
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc...	ORPHA:228123
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Antinuclear antibody positivity, Increased circulating IgG4 level	ORPHA:449563
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Lead Poisoning	Increased circulating IgE level, Abnormality of humoral immunity	ORPHA:330015
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Increased circulating IgM level	OMIM:617303
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c...	ORPHA:99827
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,...	ORPHA:340
Mevalonic Aciduria	Increased circulating IgD level	OMIM:610377
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Wolcott-Rallison Syndrome	Lymphocytosis, Iron deficiency anemia, Neutropenia	ORPHA:1667
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Trichinellosis	Increased circulating IgE level	ORPHA:863
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level	ORPHA:505248
Primary Sjögren Syndrome	Anti-Ro/SS-A antibody positivity, Reduced circulating complement concentration, Decreased circula...	ORPHA:289390
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Increased circulating antibody leve...	ORPHA:91500
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre...	OMIM:619381
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Reduced circulating complement concentration, Increased circulat...	ORPHA:470
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level	OMIM:615846
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Antiphospholipi...	ORPHA:391487
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia	OMIM:617718
Primary Sclerosing Cholangitis	Autoimmunity, Polyclonal elevation of IgM	ORPHA:171
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr...	ORPHA:544482
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level	OMIM:619472
Gaucher Disease	Polyclonal elevation of IgM, Increased circulating antibody level	ORPHA:355
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Liver Disease, Severe Congenital	Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia	OMIM:619991

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 Timd4

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 Timd4.

No publications found that use IMPC mice or data for Timd4.

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MGI Allele	Allele Type	Produced
Timd4^{tm103534(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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