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Gene: Tirap MGI:2152213

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
toll-interleukin 1 receptor (TIR) domain-containing adaptor protein
Synonyms:
MyD88-adapter-like,  wyatt,  C130027E04Rik,  Mal

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 Tirap 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 Tirap by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... OMIM:616873
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... OMIM:620449
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
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, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Impaired Ig class switch recombination, Recurrent infection of th... OMIM:608184
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... ORPHA:98813
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:619707
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... ORPHA:276
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cerebral vasculi... OMIM:243700
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Partial absence of specific antibody... OMIM:620632
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g... OMIM:308230
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral in... ORPHA:83471
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:300400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 62
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... OMIM:618459
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Recurrent meningococcal d... OMIM:610984
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... OMIM:607676
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... ORPHA:178320
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot... ORPHA:331235
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent enteroviral infections, De... ORPHA:331206
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Recu... OMIM:618048
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Recurrent bacteri... OMIM:603585
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Immunodeficiency 12
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... OMIM:615468
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... ORPHA:169090
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Cerebral vasculitis, Im... OMIM:613179
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... ORPHA:60033
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel... OMIM:606367
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration OMIM:612952
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... OMIM:618534
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... OMIM:116920
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Sepsis OMIM:612840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Pgm3-Cdg
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent r... ORPHA:443811
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:618394
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Cerebral v... ORPHA:48435
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... ORPHA:221139
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Recurrent viral infections, Increased circulating IgE level, Recurrent fungal infec... OMIM:620565
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia OMIM:619705
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:301081
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Dilated cardiomyopathy, Recurrent viral infect... OMIM:242840
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Impaired ADP-induced platelet aggregation, Recurrent... OMIM:608233
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Tricuspid regurgitation... OMIM:300972
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Small vessel vasculitis ORPHA:36412
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Chédiak-Higashi Syndrome
Epistaxis, Abnormality of neutrophil physiology, Recurrent staphylococcal infections, Recurrent r... ORPHA:167
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra... OMIM:301220
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Mitral ... OMIM:612541
Mirage Syndrome
Recurrent bacterial infections, Intracranial hemorrhage, Sepsis, Recurrent urinary tract infections OMIM:617053
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Immunodeficiency 92
Abnormal B cell proliferation, Decreased circulating IgG level, Partial absence of specific antib... OMIM:619652
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Recurrent bacteri... OMIM:615895
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Recurrent systemic pyogenic infections, Recurrent infections, R... OMIM:214500
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615758
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in... ORPHA:79124
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Dilated cardiomyopathy, Third degree atrioventricular block, Sepsis, ... OMIM:619573
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Telangiectasia of the skin ORPHA:2176
Chromomycosis
Recurrent bacterial infections ORPHA:182
Sickle Cell Disease
Recurrent bacterial infections, Hypertension OMIM:603903
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr... ORPHA:544482
Shwachman-Diamond Syndrome
Bone marrow hypocellularity, Recurrent viral infections, Sepsis, Impaired neutrophil chemotaxis, ... ORPHA:811
Peripartum Cardiomyopathy
Increased circulating interferon-gamma concentration ORPHA:563
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hypertension OMIM:232220
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased circulating antibody level, Increased circulating antib... ORPHA:470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Aicardi-Goutières Syndrome
Increased circulating interferon-gamma concentration ORPHA:51
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Recurrent Staphylococcus aureus infections,... ORPHA:642

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 Tirap

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 Tirap.

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

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