Details of Disease | DrugMAP

General Information of Disease (ID: DIS9O6BJ)

Disease Name	Agammaglobulinemia 6, autosomal recessive
Synonyms	agammaglobulinemia, autosomal recessive, due to Cd79B defect; AGM6; autosomal agammaglobulinemia caused by mutation in CD79B; agammaglobulinemia 6, autosomal recessive; CD79B autosomal agammaglobulinemia
Definition	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.
Disease Hierarchy	DISRW8BT: Autosomal agammaglobulinemia DIS9O6BJ: Agammaglobulinemia 6, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0012987 UMLS CUI C3150207 OMIM ID 612692 MedGen ID 461557

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
CD79B	TTBN5I7	Strong	Biomarker	[1]
CD79B	TTBN5I7	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD79B	OTEYGWSV	Definitive	Autosomal recessive	[2]
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References

1	Autosomal recessive agammaglobulinemia: the third case of Ig deficiency due to a novel non-sense mutation.J Clin Immunol. 2014 May;34(4):425-7. doi: 10.1007/s10875-014-0033-4. Epub 2014 Apr 11.
2	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.