autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Findings

No curated finding names autosomal recessive hyperinsulinism due to Kir6.2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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.

Where it sits

A kind of

• diazoxide-resistant diffuse hyperinsulinism
• hyperinsulinemic hypoglycemia, familial, 2

Resolves to: autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Also called

autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency