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Gene: Rragc MGI:1858751

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Ras-related GTP binding C
Synonyms:
TIB929,  YGR163W,  Gtr2

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 Rragc 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 Rragc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm... ORPHA:331206
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly OMIM:269840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Anemia, Abnormal natural ... OMIM:613101
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig... OMIM:616005
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... ORPHA:397596
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:603909
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... OMIM:617780
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level ORPHA:1296
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Immunodeficiency, Common Variable, 6
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... OMIM:613496
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... OMIM:608184
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Boutonneuse Fever
Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Increased circulating I... ORPHA:83313
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulati... ORPHA:100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... ORPHA:572
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, A... ORPHA:540
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... OMIM:620005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Immunodeficiency 56
Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Panh... OMIM:615207
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Decrease... ORPHA:353298
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I... ORPHA:183675
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level OMIM:619750
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decre... ORPHA:1572
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S... OMIM:619381
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... ORPHA:169105
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... ORPHA:125
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elevated circulating alkaline phosphatase concentration, Decreased circulating total IgM, Annular... OMIM:618162
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... OMIM:615468
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... OMIM:614576
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... OMIM:606056
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De... ORPHA:420741
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn... ORPHA:186
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level OMIM:617425
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... ORPHA:99867
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Low alkaline phosphatase, Decreased circulating IgA level ORPHA:369837
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l... ORPHA:83617
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... OMIM:615688
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Increased ... OMIM:615934
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraprotei... ORPHA:91139
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... ORPHA:227990
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease... OMIM:613385
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m... OMIM:617303
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... ORPHA:227982
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Partial abs... ORPHA:79324
Rift Valley Fever
Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Incr... ORPHA:319251
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased... ORPHA:247598
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl... ORPHA:79329
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic steatosis, Decreased circulati... OMIM:613327
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Decreas... OMIM:212750
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circ... ORPHA:470
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... ORPHA:84064
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Decreased circulating antibody le... ORPHA:289390
Tick-Borne Encephalitis
Elevated hepatic transaminase, Leukocytosis, Increased circulating IgG level, Increased circulati... ORPHA:297
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, T lymphocytopenia, Leu... OMIM:242840
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulat... OMIM:212065
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:1304
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... ORPHA:505248
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ... ORPHA:2136
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... ORPHA:99829
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... ORPHA:79078
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Splenomegaly, Leukocytosis, Jaundic... ORPHA:99827
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... ORPHA:449395
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia ORPHA:99843
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary... ORPHA:2298
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating a... OMIM:274000
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropenia ORPHA:33364
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level ORPHA:261552

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 Rragc

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 Rragc.

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

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
Rragctm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rragctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rragctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rragctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rragctm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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