/agammaglobulinemia 7, autosomal recessive

agammaglobulinemia 7, autosomal recessive

Rare Disease

MONDO:0014083

Also Known As

PIK3R1 autosomal agammaglobulinemiaagammaglobulinemia 7, autosomal recessiveautosomal agammaglobulinemia caused by mutation in PIK3R1AGM7agammaglobulinemia, autosomal recessive, due to PIK3R1 defect

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.

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Associated Genes

PIK3R1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615214 ↗

GARD

GARD:15918 ↗

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