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Gene: Tbc1d10c MGI:1922072

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

TBC1 domain family, member 10c

Synonyms:

1810062O14Rik, Carabin

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 Tbc1d10c 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 Tbc1d10c (0 diseases)
Human diseases predicted to be associated with Tbc1d10c (336 diseases)

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

The table below shows human diseases predicted to be associated to Tbc1d10c by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ...	OMIM:613495
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 18	Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre...	OMIM:615615
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ...	OMIM:137100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Immunodeficiency 24	Decreased circulating IgG level, Recurrent viral infections, Defective T cell proliferation, Redu...	OMIM:615897
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni...	OMIM:609529
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re...	OMIM:610163
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:619220
Immunodeficiency 95	Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le...	OMIM:619773
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Recurrent infections	OMIM:235900
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu...	OMIM:618534
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:601859
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu...	OMIM:614699
Immunodeficiency 62	Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect...	OMIM:618459
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin...	OMIM:619632
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Autoimmunity, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased circul...	ORPHA:98813
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Recurre...	OMIM:618982
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Decreased circulating complement factor I concentration, Syst...	OMIM:613652
Immunodeficiency, Common Variable, 2	Autoimmunity, Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:613502
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Antinuclear antibody positivity, Recurrent viral infections, Ant...	OMIM:618048
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Recur...	ORPHA:277
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C...	OMIM:614420
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level	OMIM:233650
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni...	ORPHA:275
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ...	OMIM:619707
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function	OMIM:267500
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:603909
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Systemic lupus erythematosus	OMIM:613791
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:612692
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating IgA level, Autoimmune thrombocytopenia, Recurrent viral in...	ORPHA:169154
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp...	OMIM:618944
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, I...	OMIM:615513
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency, Common Variable, 1	Impaired T cell function, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodi...	OMIM:607594
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 11A	Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati...	OMIM:615206
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinemia, Decreased circulat...	OMIM:300400
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac...	OMIM:617765
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:243700
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Anti-thyroid peroxidase antibody positivity, Recurrent pneu...	OMIM:615577
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infections...	OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent respiratory infections, Recurrent viral infections, Autoimmune thrombocytopenia, Decrea...	OMIM:300853
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, Recurrent infections	OMIM:616941
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Chilblain Lupus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity...	ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormal immunoglobulin level, Severe recurrent varicella, R...	ORPHA:276
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity	OMIM:614493
Igg4-Related Aortitis	Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti...	ORPHA:449400
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Complement Component C1R/C1S Deficiency	Complement deficiency, Autoimmunity, Recurrent bronchitis	OMIM:216950
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch...	OMIM:613496
Immunodeficiency 33	Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level	OMIM:300636
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Anticardiolipin Ig...	OMIM:615559
Immunodeficiency 109 With Lymphoproliferation	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent sinusitis, Recurrent lower ...	OMIM:620282
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a...	ORPHA:169079
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Decreased specific pneumococcal antibody level	OMIM:617006
Immunodeficiency 66	Defective T cell proliferation, Sepsis	OMIM:618847
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Abnormal immunoglobulin level	ORPHA:90159
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections	OMIM:615214
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive	OMIM:209950
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Autoimmune h...	ORPHA:572
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b...	ORPHA:2688
Immunodeficiency 96	Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ...	OMIM:619774
Complement Component C1S Deficiency	Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc...	OMIM:615592
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Recurrent viral infections, Decreased circulating anti...	ORPHA:331206
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Antiphospholipid antibody positivity, Rheumatoid factor positiv...	OMIM:615934
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:616100
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Recurrent sinopulmonary infections, Decreased circulating total ...	OMIM:618394
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Immunodeficiency 81	Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Reduced natural killer cell a...	OMIM:619374
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:619824
Activated Pi3K-Delta Syndrome	Autoimmunity, Recurrent tonsillitis, Decreased circulating antibody level, Increased circulating ...	ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increased circulating an...	ORPHA:169160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating...	OMIM:614069
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:2137
C3 Glomerulopathy	Autoimmunity, Paraproteinemia, Recurrent infections, Decreased circulating complement C3 concentr...	ORPHA:329918
Autoinflammation With Arthritis And Dyskeratosis	Antinuclear antibody positivity, Increased circulating IgG level, Autoimmune hemolytic anemia, In...	OMIM:617388
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni...	OMIM:619846
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur...	OMIM:619281
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections...	ORPHA:217390
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i...	OMIM:616576
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, Recurrent upper respiratory tract infections, Increased circulating IgM level, Recu...	OMIM:616005
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Pgm3-Cdg	Recurrent respiratory infections, Rheumatoid factor positive, Autoimmunity, Increased circulating...	ORPHA:443811
Immunodeficiency 22	Autoimmunity, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decr...	OMIM:615758
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Immunodeficiency 23	Recurrent respiratory infections, Rheumatoid factor positive, Recurrent staphylococcal infections...	OMIM:615816
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythemato...	ORPHA:444463
Bare Lymphocyte Syndrome, Type Ii	Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract...	OMIM:209920
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Recurrent infections	OMIM:615285
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant...	OMIM:613011
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Autoim...	OMIM:613179
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	ORPHA:436159
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Recurrent infections, Bone marrow hypocellularity, Chronic oral cand...	OMIM:301078
Selective Igm Deficiency	Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio...	ORPHA:331235
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic...	OMIM:147060
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Kimura Disease	Increased circulating IgE level	ORPHA:482
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au...	ORPHA:3261
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le...	OMIM:620210
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec...	OMIM:308240
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmunity, Recurrent upp...	ORPHA:183675
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato...	OMIM:615952
Igg4-Related Submandibular Gland Disease	Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Autoimmuni...	ORPHA:83471
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti...	ORPHA:64744
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level	OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Recurrent infections, Autoimmunity, Decreased circulating antibody level	OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o...	ORPHA:35078
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG,...	ORPHA:91139
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m...	OMIM:618282
Immunodeficiency 32B	Impaired oxidative burst, Recurrent infections, Recurrent respiratory infections, Abnormal circul...	OMIM:226990
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par...	OMIM:618986
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgE, Dec...	OMIM:619510
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgG leve...	OMIM:618213
Unclassified Myelodysplastic Syndrome	Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se...	OMIM:300755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf...	OMIM:600802
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2,...	OMIM:615607
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased lymphocyte proliferation...	OMIM:606367
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio...	OMIM:619802
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recur...	OMIM:614700
Pyoderma Gangrenosum	Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48104
Iga Pemphigus	Autoimmune antibody positivity, Monoclonal elevation of circulating IgA, Increased circulating Ig...	ORPHA:555905
Prolidase Deficiency	Recurrent infections, Recurrent pneumonia, Increased circulating antibody level, Systemic lupus e...	OMIM:170100
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity	ORPHA:90003
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ...	OMIM:256500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,...	OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recu...	OMIM:102700
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim...	ORPHA:231154
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Insulin-Resistance Syndrome Type B	Autoimmunity, Decreased circulating complement factor B concentration, Increased circulating IgA ...	ORPHA:2298
Encephalitis Lethargica	Increased circulating antibody level, Autoimmunity, Recurrent viral infections	ORPHA:83600
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections	ORPHA:704
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio...	ORPHA:1493
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Autoimmunity	ORPHA:2902
Igg4-Related Dacryoadenitis And Sialadenitis	Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti...	ORPHA:79078
Roifman Syndrome	Recurrent otitis media, Decreased T cell activation, Recurrent pneumonia, Decreased circulating a...	ORPHA:353298
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune...	OMIM:304790
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease...	ORPHA:634
Primary Biliary Cholangitis	Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Increased circula...	ORPHA:186
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Reduced natural killer cell activity, Increased circulating IgA leve...	OMIM:301000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased...	OMIM:620040
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec...	OMIM:618131
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Igg4-Related Kidney Disease	Rheumatoid factor positive, Increased circulating IgG4 level, Antinuclear antibody positivity, In...	ORPHA:449395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia, Sepsis, Recurrent upper respiratory tr...	OMIM:602450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy...	ORPHA:37042
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function	ORPHA:30
Q Fever	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin IgG antibody po...	ORPHA:781
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis	ORPHA:723
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Postinfectious Vasculitis	Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibody positivity, Cyt...	ORPHA:48435
Tularemia	Increased circulating antibody level	ORPHA:3392
Alg12-Cdg	Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in...	ORPHA:79324
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l...	ORPHA:297
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig...	OMIM:607143
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect...	OMIM:614576
Trichothiodystrophy 5, Nonphotosensitive	Chronic decreased circulating IgG1, Recurrent infections	OMIM:300953
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections	ORPHA:66628
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Increased circulating IgA level	OMIM:616395
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Autoimmune Polyendocrinopathy Type 4	Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib...	ORPHA:227990
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections	ORPHA:179494
Schimke Immuno-Osseous Dysplasia	Autoimmunity, Impaired T cell function, Abnormal lymphocyte physiology, Recurrent infections, Bon...	ORPHA:1830
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Recurrent i...	ORPHA:90363
Ebola Hemorrhagic Fever	Increased circulating antibody level, Sepsis	ORPHA:319218
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr...	OMIM:300972
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Recurrent candida infections	OMIM:201100
Autoimmune Polyendocrinopathy Type 3	Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib...	ORPHA:227982
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ...	OMIM:612301
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Igg4-Related Ophthalmic Disease	Antinuclear antibody positivity, Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections	ORPHA:2314
Brucellosis	Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive	ORPHA:1304
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De...	OMIM:242840
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Igg4-Related Pachymeningitis	Complement deficiency, Increased circulating IgG4 level	ORPHA:449427
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Recurrent infections	OMIM:617591
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Sep...	OMIM:617303
Ataxia-Telangiectasia	Decreased circulating IgG level, Recurrent bronchitis, Recurrent lower respiratory tract infectio...	OMIM:208900
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Riddle Syndrome	Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus...	ORPHA:420741
Orotic Aciduria	Impaired T cell function	OMIM:258900
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Hyper-Igd Syndrome	Chronic oral candidiasis, Increased circulating IgD level, Recurrent infections, Increased circul...	OMIM:260920
Bloom Syndrome	Recurrent urinary tract infections, Recurrent tonsillitis, Decreased circulating antibody level, ...	ORPHA:125
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level	OMIM:615508
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Mgat2-Cdg	Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:79329
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent upper respiratory tra...	OMIM:210900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre...	ORPHA:508533
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Sepsis, Increased circulating IgM level, Bone marrow hypocellul...	ORPHA:505248
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Scleromyxedema	Paraproteinemia	ORPHA:167635
Mevalonic Aciduria	Increased circulating IgD level, Recurrent infections	OMIM:610377
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Velocardiofacial Syndrome	Impaired T cell function, Recurrent infections	OMIM:192430
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level	ORPHA:330015
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased...	OMIM:620005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Decreased circulating IgG level, Recurrent infections	OMIM:618278
Dubowitz Syndrome	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:223370
Lysinuric Protein Intolerance	Antinuclear antibody positivity, Decreased circulating antibody level, Abnormality of humoral imm...	ORPHA:470
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function, Recurrent viral infections	OMIM:176690
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Gaucher Disease Type 3	Recurrent respiratory infections, Increased circulating antibody level	ORPHA:77261
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Recurrent infections, Decreased circulating total IgM, Recurrent...	OMIM:619381
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Autoimmunity, Polyclonal elevation of IgM	ORPHA:171
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Trichinellosis	Increased circulating IgE level	ORPHA:863
Aicardi-Goutieres Syndrome 7	Recurrent lower respiratory tract infections, Increased circulating antibody level	OMIM:615846
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Primary Sjögren Syndrome	Decreased circulating antibody level, Decreased circulating complement C3 concentration, Increase...	ORPHA:289390
22Q11.2 Deletion Syndrome	Autoimmunity, Impaired T cell function	ORPHA:567
Gaucher Disease	Increased circulating antibody level	ORPHA:355
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections	ORPHA:500150
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Digeorge Syndrome	Impaired T cell function, Recurrent pneumonia, Recurrent infections, Recurrent sinusitis, Recurre...	OMIM:188400
Marburg Hemorrhagic Fever	Increased circulating antibody level	ORPHA:99826
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829

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 Tbc1d10c

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 Tbc1d10c.

No publications found that use IMPC mice or data for Tbc1d10c.

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
Tbc1d10c^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tbc1d10c^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tbc1d10c^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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