Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gon-4-like (C.elegans)
Synonyms:
2610100B20Rik,  1500041I23Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Gon4l 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.

The table below shows human diseases associated to Gon4l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Grange Syndrome
OMIM:602531
Grange Syndrome
ORPHA:79094

The table below shows human diseases predicted to be associated to Gon4l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency 76
T lymphocytopenia, Colitis, Splenomegaly, B-cell lymphoma, B lymphocytopenia, Lymphadenopathy, Ly... OMIM:619164
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Hepatomegaly, Dec... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Monocytosis, Leukocytosis, Redu... OMIM:619281
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific antibody response to protein-conjugate... ORPHA:70593
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, B l... OMIM:618108
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Squamous cell carcinoma, Verrucae, B lymphocytopenia, Squamous cell carcinoma ... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Leukopenia, Hepatosplenomegaly,... OMIM:618986
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphoproliferative disorder, Hodgkin l... OMIM:618261
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosi... OMIM:619652
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder, Erythroid hypoplasia OMIM:242880
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Rectovaginal fistula, T lymphocytopenia, Hepatosplenomegaly, Par... ORPHA:35078
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Lymphoma, Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decr... OMIM:300853
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma, Impaired lymphocyte transformation w... OMIM:153600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Immunodeficiency 75
Hepatosplenomegaly, Lymphoma, Follicular hyperplasia, Lymphadenopathy, Decreased proportion of cl... OMIM:619126
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Ly... OMIM:618495
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Lymphoma, Colitis... OMIM:614700
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Decreased circulating total IgM, Decreased proport... ORPHA:331206
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... OMIM:601495
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Squamous cell carcinoma of the skin, Lymphopenia, Verrucae OMIM:618309
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300755
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Lymphoma, Splenomegaly, Hepatomegaly, Neoplasm, Decreased circul... OMIM:240500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormal size of pituitary gland, Autoimmune thrombocytopenia, De... ORPHA:293978
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Dec... OMIM:617006
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Increased circulating IgG level, Increased circulating IgM level, Autoimmune th... OMIM:619220
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Decreased circulating antibody level... OMIM:613101
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:613501
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy, Increa... ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Alpha-Heavy Chain Disease
Lymphoma, Dysgammaglobulinemia, Splenomegaly, Abnormality of the small intestine, Hepatomegaly, A... ORPHA:100025
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Decreased circulating IgG level OMIM:152800
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, B-cell lymphoma, Chronic lymphatic leukemia, ... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Nijmegen Breakage Syndrome
T lymphocytopenia, Anal stenosis, Rhabdomyosarcoma, Lymphoma, Dysgammaglobulinemia, Autoimmune he... OMIM:251260
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased lymphocyte proliferat... ORPHA:221139
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level, Verrucae OMIM:193670
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Cryptorchidism, Anemia, Esophageal stricture, Myelodysplasia, Lym... OMIM:617053
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Lymphoma, Splenomegaly, Hepatomegaly, Decreas... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Colitis, Splenomegaly, Hepatomegaly, Decreased circulating antibo... OMIM:300635
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Lack of T cell f... ORPHA:572
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Malabsorpti... ORPHA:33355
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy OMIM:212050
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Myelodysplasia, B... ORPHA:508542
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Hepatomegaly, Jaundice, Decreased circulating antibody level, Decreased propor... OMIM:301045
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia, Testicular atrophy OMIM:618165
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Malabsorption ORPHA:1116
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Decreased response to growth hormone stimulation test, Absent circulati... OMIM:307200
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myelodysplasia, Aplastic anemia, Myeloid le... OMIM:614172
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased circulating total IgM, De... ORPHA:90362
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Gracile Bone Dysplasia
Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Non-Hodgkin lymphoma, Female hypogonadism, Le... OMIM:208900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, T lymphocytopenia, Colitis, Decreased circulating total IgG, Dec... OMIM:619381
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphoma, Abnormal immunoglobulin level, Splenomegaly, Hepatomega... ORPHA:3162
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Decreased circulating IgA level, Macroglossia... OMIM:242860
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Enterocolitis, Neut... ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Decreased circulating total IgM, Cryptorchidism, Pancreatic hypoplasia, Hepatomeg... ORPHA:83617
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Hypoglossia With Situs Inversus
Microglossia, High palate, Polysplenia, Asplenia OMIM:612776
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Lymphoma, Decreased proportion of CD4-positive help... ORPHA:443811
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Bone marrow hypocellularity, Neutropenia, Anemia, Increase... OMIM:618849
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Hemolyt... OMIM:614034
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227990
Lichtenstein Syndrome
Neutropenia, Decreased circulating IgA level OMIM:246550
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Ataxia-Telangiectasia
Polycystic ovaries, Decreased circulating antibody level, Neoplasm, Aplasia/Hypoplasia of the thy... ORPHA:100
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Colonic atresia, Intestinal malrotation, Autoimmune hemolytic a... OMIM:243150
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Decreased circulat... ORPHA:381
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity, Lymphopenia, Abnorma... OMIM:242700
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227982
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Hepatic steatosis, Chronic de... OMIM:300972
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Abnormality of the liver, Lymphoma, Autoimmune thrombocytopenia, S... ORPHA:1572
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune he... OMIM:615952
Selective Igm Deficiency
Decreased circulating total IgM, Non-Hodgkin lymphoma, Decreased proportion of CD3-positive T cel... ORPHA:331235
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Exocrine pancreatic insufficiency, Abnormality of the liver, He... ORPHA:699
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Icf Syndrome
Decreased circulating antibody level, Macroglossia, Abnormality of neutrophils, Anemia, Malabsorp... ORPHA:2268
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gas... OMIM:616576
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Hypoplastic spleen OMIM:601186
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased circulating total IgM, Increased circulating IgA level, Autoimmune hemoly... OMIM:301000
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Atypi... ORPHA:83471
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia, Lymph... OMIM:617591
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Colitis, Neutropenia, Cutaneous anergy, Panhypo... OMIM:209920
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis OMIM:615415
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Malabsorption OMIM:137100
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Squamous cell carcinoma, Leukem... OMIM:210900
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Thymoma
Neoplasm of the gastrointestinal tract, Non-Hodgkin lymphoma, Neoplasia of the pleura, Leukemia, ... ORPHA:99867
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Bloom Syndrome
Decreased circulating IgG level, Lymphoma, Neoplasm of the breast, Recurrent tonsillitis, Neoplas... ORPHA:125
Cowden Syndrome 1
High palate, Subcutaneous lipoma, Carcinoma, Breast carcinoma, Colonic diverticula, Ovarian carci... OMIM:158350
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:612301
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Chronic hepatitis, Iron deficiency anemia, Hepatitis, Asplenia... OMIM:269200
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Intest... ORPHA:449400
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Lymphoma, Decreased circulating IgG1 level, Intussusception, Dec... ORPHA:90363
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating thyroi... OMIM:242900
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruct... ORPHA:400
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Increased circul... ORPHA:77259
Immunodeficiency 59 And Hypoglycemia
High palate, Hepatomegaly, Decreased circulating antibody level, Prolonged neonatal jaundice, Com... OMIM:233600
Pyoderma Gangrenosum
Increased circulating antibody level, Myelodysplasia, Myeloid leukemia, Inflammation of the large... ORPHA:48104
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of the thymus, Decreased circulating IgA level, Leukemia OMIM:208910
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Increased circulating IgG level, Cholangitis, E... ORPHA:449432
Prolidase Deficiency
High palate, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Prolonged ... OMIM:170100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Agammaglobulinemia, Aganglionic megacolon, Anemia, Malabsorption, Ly... ORPHA:935
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Thrombocytopenia, Increased circulating antibody level, Hepatitis... ORPHA:319218
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Pancreatic cysts, Cholestasis, Bile duct proliferation, Intestinal malrotation... OMIM:208540
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Portal hypertension, Splenomegaly, Hepatomegaly, Decreased circulating IgA level, H... OMIM:613385
Smith-Kingsmore Syndrome
Cryptorchidism, Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Mogs-Cdg
High palate, Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly... ORPHA:79330
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells, Hypoplasia of t... ORPHA:66628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hypereosinop... ORPHA:508533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Anal atresia, Lymphopenia, Hepatic cysts OMIM:617425
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Okur-Chung Neurodevelopmental Syndrome
High palate, Decreased circulating IgA level, Decreased circulating antibody level, Decreased cir... OMIM:617062
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells, Decreased testi... ORPHA:179494
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Bifid uvula, Hepatic steatosis, Neoplasm, Premature ovarian... ORPHA:2959
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG level, Splenomegaly... ORPHA:2137
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Neoplasm of the gastrointestinal tract, Colon cancer, Refractory anemia, In... ORPHA:157794
Whim Syndrome
Lymphadenitis, Parotitis, Papilloma, Cutaneous melanoma, Abnormality of the small intestine, Verr... ORPHA:51636
Sweeney-Cox Syndrome
High palate, Anal atresia, Asplenia, Bilateral cryptorchidism, Cleft palate OMIM:617746
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Hypoparathyroidism, Malabsorption, Asplenia, Chronic active ... OMIM:240300
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Abdominal situs inversus, Cleft palate, Asplenia OMIM:619123
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Intestinal malrotation, Tracheoesophageal fistula, Aganglionic megacolon, Ana... ORPHA:210122
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Bone marrow hypocellularity, Thromboc... OMIM:615688
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Abnormality of the thymus, Decrease... OMIM:242840
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatic steatosis, Splenomegaly, Hepatomegaly, Decreased circulating IgA level, Pyloric st... OMIM:613327
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Malab... OMIM:226300
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:607944
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Viral hepatitis, Decreased circulating total IgM, Cholangitis, L... ORPHA:183675
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cutaneous abscess, Cholan... ORPHA:284
Primary Ciliary Dyskinesia
Intestinal malrotation, Polysplenia, Asplenia ORPHA:244
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Microgastria, Cryptorchidism, Intestinal malrotation, A... OMIM:156810
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Glabellar hemangioma, Decreased response to growth hormone stimulatio... OMIM:618223
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Thrombocytosis, Decreased circulating IgA lev... OMIM:212065
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:615577
Feingold Syndrome 1
High palate, Accessory spleen, Tracheoesophageal fistula, Esophageal atresia, Asplenia, Annular p... OMIM:164280
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Dubowitz Syndrome
High palate, Decreased circulating IgG level, Neuroblastoma, Velopharyngeal insufficiency, Crypto... OMIM:223370
Celiac Disease, Susceptibility To, 1
Lymphoma, Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Celiac disease... OMIM:212750
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Decreased circulating antibod... ORPHA:586
Myotonic Dystrophy 2
Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:602668
Primary Sjögren Syndrome
Decreased serum complement C4, Biliary cirrhosis, Leukopenia, Normocytic anemia, Parotitis, Lymph... ORPHA:289390
Mosaic Trisomy 9
High palate, Cryptorchidism, Intestinal malrotation, Abnormal liver lobulation, Asplenia, Cleft p... ORPHA:99776
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Cryptorchidism, Decreased circulating IgA level, Hemangioma, Lactose intolerance ORPHA:457485
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Intestinal malrotation, Asplenia OMIM:619657
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Pancreatic cysts, Accessory spleen, Cryptorchidism, Furrowed to... ORPHA:564
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Intestinal malrotation, Bile duct proliferation, Lobulated tong... OMIM:249000
Gaisböck Syndrome
Increased hematocrit, Cholecystitis, Increased mean corpuscular hemoglobin concentration, Increas... ORPHA:90041
Tetraamelia Syndrome 1
Anal atresia, Cleft palate, Adrenal gland agenesis, Asplenia OMIM:273395
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Generalized lymphadenopathy, De... ORPHA:420741
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Meckel diver... OMIM:265380
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Anal atresia, Posteriorly placed anus, Abdominal situs inversus, Asplenia, Biliary ... OMIM:306955
Pseudoaminopterin Syndrome
Cryptorchidism, High palate, Asplenia ORPHA:221120
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Hypoparathyroidism, Decreased circulating IgA level, High, narro... ORPHA:369837
Monosomy 18Q
High palate, Decreased circulating IgA level, Secondary growth hormone deficiency, Astrocytoma, B... ORPHA:1600
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Intestinal malrotation, Abdominal situs inversus, Asplenia, Duodenal at... OMIM:270100
Viss Syndrome
Submucous cleft soft palate, High palate, Bifid uvula, Hypereosinophilia, Broad uvula, Increased ... OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Cryptorchidism, Cleft hard palate, Aganglionic megacolon, Decreased circulating anti... ORPHA:261537
Mowat-Wilson Syndrome
Bifid uvula, Cryptorchidism, Cleft hard palate, Aganglionic megacolon, Decreased circulating anti... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Cryptorchidism, Cleft hard palate, Aganglionic megacolon, Decreased circulating anti... ORPHA:261552
Grange Syndrome
OMIM:602531
Grange Syndrome
ORPHA:79094

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 Gon4l

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 Gon4l.

No publications found that use IMPC mice or data for Gon4l.

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MGI Allele Allele Type Produced
Gon4ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gon4ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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