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hyper-IgM syndrome type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0010626

The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. [ http://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_1 ]

Synonyms: HIGM1 hyper-IgM syndrome due to CD40 ligand deficiency XHIGM HIGMX-1 hyperimmunoglobulin M syndrome hyper-IgM syndrome type 1 hyper-IgM syndrome due to CD40L deficiency hyper-IgM syndrome, X-linked immunodeficiency, X-linked, with hyper-IgM, X-linked recessive X-linked hyper-IgM syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:73 (Orphanet:101088)
  • OMIM:308230 (Orphanet:101088/e)
  • Orphanet:101088 (OMIM:308230)
  • SCTID:403835002 (MONDO:equivalentTo)
  • UMLS:C0398689 (Orphanet:101088)
  • DOID:0060022 (MONDO:equivalentTo)
  • DOID:6620 (MONDO:equivalentTo)
  • NCIT:C61244 (MONDO:equivalentTo)
  • NORD:1261 (MONDO:NORD)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

comment

This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG.

exactMatch

http://identifiers.org/snomedct/403835002

http://www.orpha.net/ORDO/Orphanet_101088

http://linkedlifedata.com/resource/umls/id/C0398689

http://purl.obolibrary.org/obo/DOID_6620

https://omim.org/entry/308230

http://purl.obolibrary.org/obo/NCIT_C61244

http://purl.obolibrary.org/obo/DOID_0060022

has related synonym

hyper IgM immunodeficiency, X-linked

HIGM

hyper-IgM syndrome 1

IHIS

hyper-IgM syndrome

immunodeficiency with hyper-IgM, type 1

immunodeficiency with hyper IgM type 1

X-linked hyper IgM syndrome

hyper-IgM immunodeficiency, X-linked

CD40 ligand deficiency

hyper IgM syndrome

immunodeficiency 3

hyper IgM syndrome 1

XHIM

id

MONDO:0010626

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010626

https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1

Term relations