Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
carbohydrate sulfotransferase 4
Synonyms:
high endothelial cell GlcNAC-6-sulphotransferase,  GST-3,  HEC-GlcNAc6ST

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 Chst4 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 Chst4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Defective B cell ... OMIM:607271
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy OMIM:618987
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, L... OMIM:615513
Kerion Celsi
Lymphadenopathy ORPHA:499
Mast Cell Sarcoma
Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level, Follicular hyperplasia, ... OMIM:619846
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenop... OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Fluctuating splenomegaly, Lymph... OMIM:619220
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Folli... OMIM:240500
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Defe... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Absence of lymph node germinal center OMIM:608184
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Decreased T cell activation,... OMIM:300853
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Complete or near... OMIM:620282
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Increased circulating antibody level ORPHA:100024
Immunodeficiency 105
Decreased circulating IgG level, Absence of lymph node germinal center, Decreased circulating IgA... OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymphadenopathy, Decre... OMIM:613101
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 52
Decreased circulating IgA level, Splenomegaly, Defective T cell proliferation, Lymphadenopathy, D... OMIM:617514
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Splen... OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Absent tonsils, Absence of lymph node germinal center, Lack of T... ORPHA:277
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m... ORPHA:98848
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Lymphadenopathy OMIM:212050
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Increased circ... OMIM:209950
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Follicular hyperplasia, Splenomegaly, Increased circulating antibody level, G... OMIM:615559
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Incre... ORPHA:397596
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Splenomegaly, Lymphadenopathy OMIM:618495
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Schnitzler Syndrome
Splenomegaly, Increased circulating IgM level, Lymphadenopathy ORPHA:37748
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia, Increased circulating antibody level OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Splenomegaly, Dysgammaglob... OMIM:308240
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Lymphadenopathy, ... OMIM:616100
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Increased circulating antib... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:603909
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Increased circula... OMIM:612783
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:615122
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Boutonneuse Fever
Cervical lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Lymph... ORPHA:83313
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level,... OMIM:618048
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Increased circulating IgE level, Lymph node hypoplasia, Splenomegaly, A... OMIM:602450
Sézary Syndrome
Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly ORPHA:3162
Leishmaniasis
Splenomegaly, Lymphadenopathy, Increased circulating antibody level ORPHA:507
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Hepatosplenomegaly, Increased circulating antibody level, Increa... ORPHA:169154
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Roifman Syndrome
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:353298
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Splenomegal... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent peripheral lymph nodes in presence of infection, Abnormality of B cell p... OMIM:600802
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly,... OMIM:618935
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Lymphadenopathy, Splenomegaly OMIM:613011
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Lymphadenopathy, ... ORPHA:436159
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Lymphadenitis, Hepatosplenomegaly, Impaired neutrophil chemotaxi... OMIM:618986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Griscelli Syndrome
Bone marrow hypocellularity, Decreased circulating antibody level, Lymphadenopathy, Splenomegaly ORPHA:381
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Lymphadenopathy, Increased circulating IgM level OMIM:617099
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Lymphadenopathy OMIM:614034
Aggressive Systemic Mastocytosis
Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Lymphadenopathy, Abn... ORPHA:98850
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Decreased... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased specific antibody res... OMIM:614700
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Nephroblastoma
Lymphadenopathy ORPHA:654
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Lymphadenopathy ORPHA:343
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Increased circulating IgA level, Lymphadenopathy... OMIM:260920
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Lymphadenopathy OMIM:304790
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Lymphad... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Increased circulating antibody level OMIM:617591
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy OMIM:233710
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Increased circulating IgG level, ... ORPHA:29073
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:824
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level, Follicular hyperplasia, Paratra... OMIM:615934
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy OMIM:233690
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:603553
Mevalonic Aciduria
Fluctuating splenomegaly, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:829
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Common Variable Immunodeficiency
Splenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:1572
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology ORPHA:85450
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Tafro Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:457077
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449432
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy, Oligoclonal T cell expansion ORPHA:83471
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Decreased circulating IgG level, Decreased specific anti-polysacchar... ORPHA:3261
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Poems Syndrome
Splenomegaly, Lymphadenopathy, Increased circulating antibody level ORPHA:2905
Waldenström Macroglobulinemia
Splenomegaly, Monoclonal immunoglobulin M proteinemia, Lymphadenopathy ORPHA:33226
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy OMIM:306400
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Selective Igm Deficiency
Lymphadenitis, Paraproteinemia, Decreased specific antibody response to vaccination, Lymphadenopa... ORPHA:331235
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Impaired neutrophil bactericidal activity OMIM:214500
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Increased circulating antibody level ORPHA:781
Hennekam Syndrome
Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, ... ORPHA:2136
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy, Abnormal mast cell morphology ORPHA:98849
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Lymphatic Filariasis
Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Decreased circula... OMIM:615688
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:420741
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Splenomegaly, Lymphadenopathy ORPHA:37042
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hepatosplenomegaly, Increased proportion of CD25+ mast cell... ORPHA:167
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Increased circulating IgG level, Increased circulatin... ORPHA:228123
Neuroblastoma
Lymphadenopathy ORPHA:635
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:602782
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Lymphadenopathy, Increased cir... ORPHA:79078
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level, Generalized... OMIM:181000
Cherubism
Submandibular lymph node enlargement OMIM:118400
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Increased circulating IgG4 level, Lymphadenopathy... ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Decreased... OMIM:619381
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy ORPHA:31150
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Brucellosis
Hypersplenism, Splenomegaly, Lymphadenopathy, Increased circulating IgG level, Increased circulat... ORPHA:1304
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Increased circulating antibody level, Increased circulating IgA level, Lymphadenopa... OMIM:256040
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Lymphadenopathy, Increased circulating IgG4 level ORPHA:449563
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Primary Sjögren Syndrome
Decreased circulating antibody level, Lymphadenopathy, Increased circulating antibody level ORPHA:289390
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level, Lymphadenopathy, Splenomegaly ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Marburg Hemorrhagic Fever
Lymphadenopathy, Increased circulating antibody level ORPHA:99826
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Sarcoidosis
Lymphadenopathy, Abnormal lymph node morphology ORPHA:797
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Abnormal lymph node morphology ORPHA:99889
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:3385
Leptospirosis
Lymphadenopathy ORPHA:509

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 Chst4

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 Chst4.

No publications found that use IMPC mice or data for Chst4.

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MGI Allele Allele Type Produced
Chst4tm96744(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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