banner
Genes Phenotypes Help, News, Blog

Gene: Trip10 MGI:2146901

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
thyroid hormone receptor interactor 10
Synonyms:
Cip4

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 Trip10 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 Trip10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... OMIM:300400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen... ORPHA:277
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjuncti... OMIM:607594
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... OMIM:617241
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... OMIM:615767
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Immunodeficiency 27A
Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre... OMIM:209950
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... OMIM:618394
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:169154
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu... OMIM:613101
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt... ORPHA:436159
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c... OMIM:613501
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly... OMIM:620632
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... ORPHA:397596
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r... OMIM:600802
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Papa Syndrome
Crohn's disease, Increased inflammatory response, Increased circulating antibody level, Myositis,... ORPHA:69126
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule OMIM:616069
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618108
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibod... OMIM:616740
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D... OMIM:614069
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration... OMIM:618048
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Abnormality of... ORPHA:572
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Lymphadenopathy, Thromb... ORPHA:83313
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... ORPHA:275
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... OMIM:612782
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Increased circu... OMIM:617388
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Biliary tract abno... OMIM:209920
Thrombocytopenia 1
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... OMIM:313900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Increased circ... OMIM:620565
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Autoimmune Hepatitis
Inflammation of the large intestine, Viral hepatitis, Increased circulating IgG level, Splenomega... ORPHA:2137
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a... OMIM:618213
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Hypereosinophilia, Leukocytosis ORPHA:2902
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ... ORPHA:449432
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, L... OMIM:613179
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:615577
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis OMIM:615190
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, A... OMIM:301000
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Skin rash, Pustule, M... OMIM:615934
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... ORPHA:634
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo... ORPHA:169105
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Sinusitis, T lymph... OMIM:242860
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy... ORPHA:183675
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Decr... ORPHA:83471
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... OMIM:617591
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, In... ORPHA:449395
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C... ORPHA:2314
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm... OMIM:601495
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Impaired T cell function OMIM:201100
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... OMIM:615508
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Decreased circulating ... OMIM:613385
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,... ORPHA:562639
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... OMIM:619381
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c... ORPHA:79330
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t... OMIM:620040
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating compleme... ORPHA:91139
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice, Epididym... OMIM:620376
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Eosinophi... ORPHA:449563
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly... OMIM:181000
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ... ORPHA:1830
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Decreased circulati... ORPHA:125
Coccidioidomycosis
Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ... ORPHA:228123
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Hepatomegaly OMIM:613327
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex... OMIM:620005
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, Macrocytic... OMIM:212750
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Malar rash, Hepatic steatosis, ... OMIM:210900
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Thrombocytopenia, Increased circulating IgG level,... ORPHA:319251
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607143
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia... OMIM:242840
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic fibro... ORPHA:64744
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Constrictive peri... ORPHA:90363
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Allergic rhinitis, Annular pancreas, Eczematoid dermatitis OMIM:618162
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:256040
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Decreased circulating IgG level, Decreased circulating IgA level, Hepatic steat... OMIM:212065
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Eczematoid dermatitis, Increased hepatic echogenicity, Cutaneous abscess, In... OMIM:147060
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoconjunctivitis... ORPHA:79078
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,... ORPHA:2298
Simpson-Golabi-Behmel Syndrome
Polysplenia, Increased circulating IgE level, Splenomegaly, Pancreatic islet-cell hyperplasia, He... ORPHA:373
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym... ORPHA:99827
Tick-Borne Encephalitis
Myelitis, Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia... ORPHA:297
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Decreased circulating Ig... OMIM:223370
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function OMIM:176690
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... ORPHA:91500
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Digeorge Syndrome
Cholelithiasis, Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomega... OMIM:188400
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Superfici... ORPHA:83617
22Q11.2 Deletion Syndrome
Cholelithiasis, Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Seborrheic derm... ORPHA:567
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Chronic gastritis, Dec... OMIM:619472

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 Trip10

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 Trip10.

No publications found that use IMPC mice or data for Trip10.

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
Trip10tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter