hyperinsulinemic hypoglycemia with polycystic kidney disease
MONDO:1030000Mondo
Findings
No curated finding names hyperinsulinemic hypoglycemia with polycystic kidney disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.
Definition from the Mondo Disease Ontology (MONDO:1030000), 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.
- PMM2HGNC:9115
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: hyperinsulinemic hypoglycemia with polycystic kidney disease
- Also called
- HIPKD