Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
Synonyms:
Siat7b,  Siat7,  ST6GalNAc II

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 St6galnac2 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 St6galnac2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Failure to thri... OMIM:617744
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... OMIM:618987
Immunodeficiency 102
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Partial absence of speci... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... ORPHA:331206
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ... ORPHA:98813
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Follicular hyperplasia, Decreased circulating complement C3 concentr... OMIM:615559
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating total IgM, Anemia, Intestinal lymphangiectasia, Hypoca... ORPHA:90362
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,... OMIM:613501
Immunodeficiency 15B
Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced... OMIM:615592
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating IgG level, Decreased circ... OMIM:241600
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... OMIM:275350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l... OMIM:613101
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel... ORPHA:276
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Parti... OMIM:620632
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... ORPHA:169160
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-rea... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Failure to thrive, Decreased ... OMIM:615758
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level, Small for ge... OMIM:215250
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly ORPHA:100025
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Failure to thrive, Intermittent thrombocytopenia, N... OMIM:616740
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Fa... OMIM:612782
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopenia, ... OMIM:615285
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease... OMIM:614700
Immunodeficiency 47
Cholestasis, Prolonged neonatal jaundice, Leukopenia, Splenomegaly, Decreased circulating total I... OMIM:300972
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Aplasia... ORPHA:33355
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Obesity, Decreased circulating... OMIM:300310
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin... OMIM:617872
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Increased circulating IgM level, Reduced natural killer cel... OMIM:242860
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level DECIPHER:45
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... OMIM:208900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr... OMIM:617099
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Decreased circulating antibody level, Leuk... OMIM:618042
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decrea... OMIM:620603
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Immunodeficiency, Common Variable, 6
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:613496
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Eosinophilia, Decreased circ... OMIM:618282
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Dyskeratosis Congenita, Digenic
Anemia, Failure to thrive, Decreased circulating IgG level, Decreased circulating total IgM, Decr... OMIM:620040
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic ca... OMIM:620376
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Sclerosing cholangitis, Neut... ORPHA:572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Decreased circulating complement C3 concentration, Anemia, Increased blood urea nitrogen, Thrombo... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Decreased circulating complement C3 concentration, Anemia, Increased blood urea nitrogen, Thrombo... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Decreased circulating complement C3 concentration, Anemia, Increased blood urea nitrogen, Thrombo... OMIM:612926
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Anemia, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Decre... OMIM:612301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Neutropenia, Anemia, Hyperuricemia OMIM:617056
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Eosinophilia, Failure to thr... OMIM:226990
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Anemia, Leukocytosis, Thrombocytopenia, Weight... ORPHA:90060
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Failure to thrive in infancy, Decr... OMIM:613385
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Decreased circulating complement C3 concentration, Anemia, Increased blood urea nitrogen, Thrombo... OMIM:612925
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p... OMIM:301045
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement C3 concentration, Decreased circulating complement factor I conc... OMIM:235400
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Failure t... OMIM:613327
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Failure to thrive, Weight loss, Thromboc... OMIM:212750
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616910
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Decreased circulating IgG level, Failure to thrive, Decreased circulating total IgM... OMIM:607143
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level, Cholestasis, Failur... ORPHA:1296
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulati... ORPHA:90363
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Decreased circulating total IgM, Anemia, Lymphadenopathy, Elevat... OMIM:619381
Immunoneurologic Disorder, X-Linked
Small for gestational age, Decreased circulating IgG2 level OMIM:300076
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Increased circulating IgG level, I... OMIM:615934
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Abnormal circulating cytokine concentration, Jau... ORPHA:540
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased circulating ant... OMIM:619750
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Relapsing Fever
Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased ... ORPHA:91547
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Reduced natur... OMIM:619374
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:79330
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Elevated circulating creatinine concentration,... ORPHA:567544
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Elevated circulating creatinine concentration,... ORPHA:329918
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea... OMIM:210900
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Decreased circulating IgG level, Failure to thrive, Hypoalbuminem... OMIM:212065
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Failure to... ORPHA:47
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Cholestasis, Failure to thrive, Thrombocytopenia, Hypoalbuminemia, Elevated... OMIM:608104
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ... ORPHA:381
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Decre... OMIM:226300
Preeclampsia
Abnormality of the hepatic vasculature, Thrombocytopenia, Elevated circulating creatinine concent... ORPHA:275555
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Decreased circulating IgG level, Severe B lymphocy... OMIM:620005
Bloom Syndrome
Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Abnormal proporti... ORPHA:125
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating IgG level, Weight loss, Elevated circulating a... ORPHA:420741
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Failure to thrive, Thro... ORPHA:90045
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Anemia OMIM:620366
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level ORPHA:457485
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat... ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level, Hepatomegaly OMIM:606056
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt... OMIM:274150
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Decreased circulating antibody level, Lympho... ORPHA:100
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia OMIM:618165
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Cutaneous anergy, Viral hepatitis, Failure to thrive, Bili... OMIM:209920
Coach Syndrome 2
Elevated circulating creatinine concentration, Portal fibrosis, Hepatic fibrosis, Congenital hepa... OMIM:619111
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased specific pneumococcal antibody level... ORPHA:183675
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Increased circulating... ORPHA:470
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Lymphadenopathy, Decreased circula... ORPHA:85450
Immunodeficiency 12
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... OMIM:615468
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg... OMIM:605309
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Leukocytosis, Dysfunctional alternative complement pathway, Reticulocy... ORPHA:90038
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ... ORPHA:1572
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula... ORPHA:555905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia, Decreased circulating total IgM, Decreased circulat... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Cho... OMIM:614576
Dubowitz Syndrome
Aplastic anemia, Decreased circulating IgG level, Acute lymphoblastic leukemia, Hypocholesterolem... OMIM:223370
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I... ORPHA:2298
Thymoma
Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c... ORPHA:99867
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Monosomy 18Q
Failure to thrive, Slender build, Decreased circulating IgA level ORPHA:1600
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Failure to thrive, Decreas... OMIM:617062
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ... ORPHA:79126
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Icf Syndrome
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Pancreatitis, Lymphadenopathy, Elevated circul... ORPHA:449395
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Immunodeficiency 56
Cirrhosis, Cholangitis, Panhypogammaglobulinemia, Failure to thrive, Chronic hepatitis due to cry... OMIM:615207
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Increased circulatin... ORPHA:186
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Hepati... OMIM:613095
Autosomal Agammaglobulinemia
Failure to thrive, Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Sclerosing cholangitis, Increased circulating IgG level, Increas... OMIM:243700
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat... OMIM:260920
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ... OMIM:256500
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Cryoglobulinemia, Familial Mixed
Cryoglobulinemia, Elevated circulating creatinine concentration OMIM:123550
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Microvesicular hepa... OMIM:613070
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ... OMIM:222470
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Paraproteinemia ORPHA:439232
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating long chain fatty acid concen... OMIM:608836
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan... OMIM:615688
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Abnormality of the hepatic vasculature, Nodular regenerat... ORPHA:247691
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Increased circulating antibody level, Hypokalemia, Lymphadenopathy, Neutr... ORPHA:99826
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Hepatomegaly OMIM:614376
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Complete or near-complete ab... OMIM:233600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Anemia, Hyperuricemia OMIM:174000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Decreased circulating antibody level, Hyponatremia, Severe B lymp... ORPHA:293978
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia ORPHA:230
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia ORPHA:935
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Yellow Fever
Jaundice, Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Acute pancreatit... ORPHA:99829
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Vici Syndrome
Elevated circulating creatine kinase concentration, Cutaneous anergy, T lymphocytopenia, Decrease... OMIM:242840
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blood urea ni... ORPHA:49041
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Increased circulating interleukin 8 concentration, Decreased HDL cholestero... OMIM:256040
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Panhypogammaglobulinemia, Hypoplasia of... ORPHA:84064
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Aminoaciduria ORPHA:634
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Lymphadenopathy, D... ORPHA:331235
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia OMIM:617425
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea... ORPHA:79329
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Postinfectious Vasculitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abno... ORPHA:48435
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Decreased circulating antibody level, Anemia, Failure to thrive ORPHA:79396
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Failure to thrive, Hypophosphatemia, Hypoc... ORPHA:411634
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Hepatomegaly, Incr... ORPHA:508533
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Anemia, Increased circulating interleukin 6 concentration, Decreased body weight, L... ORPHA:340
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Decreased circulating antibody level, Hyponatremia, Hypomagne... OMIM:618183
Immunodeficiency 58
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Failur... OMIM:618131
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level, Increased circ... ORPHA:79078
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Hepatomegaly OMIM:248500
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib... ORPHA:289390
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM l... ORPHA:505248
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Oligomeganephronia
Elevated circulating creatinine concentration, Small for gestational age ORPHA:2260
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Hypereosinop... OMIM:619472
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Hypocalcemia, Decreased circulating antibody level, Failure to thrive, Abno... ORPHA:175
Hennekam Syndrome
Lymphadenopathy, Hypocalcemia, Decreased circulating antibody level, Lymphangioma, Splenomegaly, ... ORPHA:2136
Autosomal Dominant Polycystic Kidney Disease
Hepatic cysts, Elevated circulating creatinine concentration, Pancreatic cysts, Polycystic liver ... ORPHA:730
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Anemia, Small for gestational age, Leukocytosis, Failure to thrive, Neutrophilia, A... ORPHA:99843
Whim Syndrome
Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia,... ORPHA:51636
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Cowden Syndrome 1
Decreased circulating antibody level, Lymphopenia OMIM:158350
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pan... OMIM:137920
Cardiogenic Shock
Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small for gestational age OMIM:601675
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Neutropenia ORPHA:33364
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Intrahepatic bile duct dilatation, Cholest... OMIM:619534
Thrombocytopenia-Absent Radius Syndrome
Anemia, Decreased circulating antibody level, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly,... OMIM:274000
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Fail... ORPHA:83617
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Pancreatitis ORPHA:93126
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas OMIM:618162
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Sponastrime Dysplasia
Decreased circulating antibody level, Small for gestational age, Neutropenia ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA ... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Decreased circulating antibody level, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Decreased body weight, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Decreased circulating antibody level, Asplenia 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 St6galnac2

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 St6galnac2.

No publications found that use IMPC mice or data for St6galnac2.

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
St6galnac2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
St6galnac2tm138(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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