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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperimmunoglobulin syndrome
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Accession:DOID:2959 term browser browse the term
Definition:A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Synonyms:exact_synonym: HIGM;   hyper-IgM immunodeficiency syndrome;   hyper-IgM immunodeficiency syndromes;   hyper-IgM syndrome;   hyper-IgM syndromes;   immunodeficiency with hyper-IgM;   immunodeficiency with hyper-IgM syndrome
 primary_id: MESH:D053306
 alt_id: RDO:0007614
 xref: NCI:C27579;   OMIM:PS308230
For additional species annotation, visit the Alliance of Genome Resources.


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hyperimmunoglobulin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:1598906
RGD:11554173
RGD:8554872
RGD:11039485
RGD:11039483
RGD:11039457
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:1599479
RGD:11554173
RGD:8554872
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:11554173
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490298
RGD:8554872
RGD:11554173
RGD:11039457
RGD:8547781
RGD:8547779
RGD:7240710
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6892956
RGD:7240710
hyper IgE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 JBrowse link 1 242,958,912 242,961,750 RGD:8554872
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:8554872
RGD:11554173
G Dop1a DOP1 leucine zipper like protein A JBrowse link 8 94,122,733 94,225,131 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Pgm3 phosphoglucomutase 3 JBrowse link 8 94,225,513 94,243,230 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
RGD:8554872
Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp341 zinc finger protein 341 JBrowse link 3 150,114,853 150,172,425 RGD:8554872
RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 4, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6st interleukin 6 signal transducer JBrowse link 2 44,279,199 44,319,427 RGD:8554872
RGD:7240710
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8554872
RGD:7240710
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:7240710
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
RGD:7240710
Tyrosine Kinase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyk2 tyrosine kinase 2 JBrowse link 8 22,118,224 22,149,807 RGD:7240710
RGD:8554872
X-linked hyper IgM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          hyperimmunoglobulin syndrome 16
            CD40 ligand deficiency + 3
            hyper IgE syndrome + 10
            hyper IgM syndrome + 4
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      Immune & Inflammatory Diseases 3099
        immune system disease 2520
          primary immunodeficiency disease 956
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    CD40 ligand deficiency + 3
                    hyper IgE syndrome + 10
                    hyper IgM syndrome + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.