hyperinsulinemic hypoglycemia, familial, 2
Findings
No curated finding names hyperinsulinemic hypoglycemia, familial, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
Definition from the Mondo Disease Ontology (MONDO:0011153), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
2 features
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.
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- 1 of 1 reported patient
- NesidioblastosisHPOHP:0034346
- 1 of 1 reported patient
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
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · Natera · Semidominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
4 names
Resolves to: hyperinsulinemic hypoglycemia, familial, 2
- Also called
- hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11hyperinsulinemic hypoglycemia due to Kir6.2 deficiencyhyperinsulinemic hypoglycemia, familial, type 2KCNJ11 hyperinsulinemic hypoglycemia (disease)