diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
MONDO:0017188Mondo
Findings
No curated finding names diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- KCNJ11HGNC:6257
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
- Also called
- hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form