Details of Disease | DrugMAP

General Information of Disease (ID: DISWT394)

Disease Name	Agammaglobulinemia 7, autosomal recessive
Synonyms	AGM7; agammaglobulinemia, autosomal recessive, due to PIK3R1 defect; PIK3R1 autosomal agammaglobulinemia; autosomal agammaglobulinemia caused by mutation in PIK3R1; agammaglobulinemia 7, autosomal recessive
Definition	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.
Disease Hierarchy	DISRW8BT: Autosomal agammaglobulinemia DISWT394: Agammaglobulinemia 7, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014083 UMLS CUI C3554689 OMIM ID 615214 MedGen ID 767603

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
PIK3R1	OT5BZ1J9	Definitive	Autosomal recessive	[1]
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References

1	Agammaglobulinemia and absent B lineage cells in a patient lacking the p85 subunit of PI3K. J Exp Med. 2012 Mar 12;209(3):463-70. doi: 10.1084/jem.20112533. Epub 2012 Feb 20.