Details of Disease | DrugMAP

General Information of Disease (ID: DISLLQGK)

Disease Name	Immunodeficiency, common variable, 5
Synonyms	antibody deficiency due to CD20 defect; CVID5; immunodeficiency, common variable, 5; common variable immunodeficiency caused by mutation in MS4A1; MS4A1 common variable immunodeficiency; immunodeficiency, common variable, type 5
Definition	Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISLLQGK: Immunodeficiency, common variable, 5
Disease Identifiers	MONDO ID MONDO_0013285 UMLS CUI C3150740 OMIM ID 613495 MedGen ID 462090

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MS4A1	TTUE541	Limited	Autosomal recessive	[1]
MS4A1	TTUE541	Limited	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MS4A1	OTZTVUBX	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.
2	Genes associated with common variable immunodeficiency: one diagnosis to rule them all?.J Med Genet. 2016 Sep;53(9):575-90. doi: 10.1136/jmedgenet-2015-103690. Epub 2016 Jun 1.