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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:CD40 ligand deficiency
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Accession:DOID:0060022 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)
Synonyms:exact_synonym: HIGM1;   HIGM1 syndrome;   HIGM1 syndromes;   HIGMX-1;   Hyper IgM Syndrome 1;   IHIS;   IMD3;   IMMUNODEFICIENCY 3;   Immunodeficiency with Hyper IgM, Type 1;   X-linked hyper-IgM immunodeficiencies;   X-linked hyper-IgM immunodeficiency;   X-linked hyper-IgM syndrome;   X-linked hyper-immunoglobulin M (IgM) syndrome;   XHIGM;   XHIM;   hyper-IgM immunodeficiency syndrome, type 1
 primary_id: MESH:D053307
 alt_id: OMIM:308230
For additional species annotation, visit the Alliance of Genome Resources.


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CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand disease_progression IDA
IAGP
ISO
EXP
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.T169N (526T>A) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations:multiple (human)
ClinVar
RGD
CTD
OMIM
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:8547779, RGD:8547781, RGD:11039457 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP DNA:mutation:splicing site:
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia with immune deficiency
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar
OMIM
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    syndrome 9133
      primary immunodeficiency disease 2644
        B cell deficiency 216
          hyperimmunoglobulin syndrome 21
            CD40 ligand deficiency 3
              Ectodermal Dysplasia and Immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      Immune & Inflammatory Diseases 3974
        immune system disease 3378
          primary immunodeficiency disease 2644
            B cell deficiency 216
              selective immunoglobulin deficiency disease 31
                dysgammaglobulinemia 31
                  hyperimmunoglobulin syndrome 21
                    CD40 ligand deficiency 3
                      Ectodermal Dysplasia and Immunodeficiency 1 2
paths to the root