Details of Disease | DrugMAP

General Information of Disease (ID: DIS9X953)

Disease Name	Agammaglobulinemia 4, autosomal recessive
Synonyms	agammaglobulinemia, autosomal recessive, due to Blnk defect; AGM4; agammaglobulinemia 4; autosomal agammaglobulinemia caused by mutation in BLNK; agammaglobulinemia 4, autosomal recessive; BLNK autosomal agammaglobulinemia
Definition	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.
Disease Hierarchy	DISRW8BT: Autosomal agammaglobulinemia DIS9X953: Agammaglobulinemia 4, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0013289 UMLS CUI C3150752 OMIM ID 613502 MedGen ID 462102

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
BLNK	OTSSPF6F	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.