Details of Disease | DrugMAP

General Information of Disease (ID: DISA7XXW)

Disease Name	Immunodeficiency, common variable, 6
Synonyms	CVID6; antibody deficiency due to CD81 defect; immunodeficiency, common variable, type 6; common variable immunodeficiency caused by mutation in CD81; immunodeficiency, common variable, 6; CD81 common variable immunodeficiency
Definition	Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISA7XXW: Immunodeficiency, common variable, 6
Disease Identifiers	MONDO ID MONDO_0013286 UMLS CUI C3150741 OMIM ID 613496 MedGen ID 462091

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD81	OTQFXNAZ	Limited	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.