Details of Disease

General Information of Disease (ID: DISOVLMN)

Disease Name Agammaglobulinemia 5, autosomal dominant
Synonyms
AGM5; agammaglobulinemia, autosomal dominant, due to Lrrc8A defect; autosomal agammaglobulinemia caused by mutation in LRRC8A; agammaglobulinemia 5, autosomal dominant; agammaglobulinemia 5; LRRC8A autosomal agammaglobulinemia
Definition Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.
Disease Hierarchy
DISRW8BT: Autosomal agammaglobulinemia
DISOVLMN: Agammaglobulinemia 5, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0013290
UMLS CUI
C3150753
OMIM ID
613506
MedGen ID
462103

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
LRRC8A OT23OE7H Limited Unknown [1]
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References

1 A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Invest. 2003 Dec;112(11):1707-13. doi: 10.1172/JCI18937.