agammaglobulinemia 5, autosomal dominant
MONDO:0013290Mondo
Findings
No curated finding names agammaglobulinemia 5, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.
Definition from the Mondo Disease Ontology (MONDO:0013290), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LRRC8AHGNC:19027
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
- A kind of
Other names
2 names
Resolves to: agammaglobulinemia 5, autosomal dominant
- Also called
- autosomal agammaglobulinemia caused by mutation in LRRC8ALRRC8A autosomal agammaglobulinemia