autosomal recessive hyperinsulinism due to SUR1 deficiency

Findings

No curated finding names autosomal recessive hyperinsulinism due to SUR1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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, 1

Resolves to: autosomal recessive hyperinsulinism due to SUR1 deficiency

Also called

autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency