Details of Disease | DrugMAP

General Information of Disease (ID: DIST9HCD)

Disease Name	Agammaglobulinemia 3, autosomal recessive
Synonyms	AGM3; agammaglobulinemia, autosomal recessive, due to Cd79A defect; autosomal agammaglobulinemia caused by mutation in CD79A; CD79A autosomal agammaglobulinemia; agammaglobulinemia 3, autosomal recessive
Definition	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
Disease Hierarchy	DISRW8BT: Autosomal agammaglobulinemia DIST9HCD: Agammaglobulinemia 3, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0013288 UMLS CUI C3150751 OMIM ID 613501 MedGen ID 462101

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
CD79A	OTOJC8DV	Definitive	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.