hyperinsulinemic hypoglycemia, familial, 1
MONDO:0009734Mondo
Findings
No curated finding names hyperinsulinemic hypoglycemia, familial, 1 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 ABCC8 gene.
Definition from the Mondo Disease Ontology (MONDO:0009734), 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.
- ABCC8HGNC:59
- Definitive · Ambry Genetics · Semidominant · 2015
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hyperinsulinemic hypoglycemia, familial, 1
- Also called
- ABCC8 hyperinsulinemic hypoglycemia (disease)hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8hyperinsulinemic hypoglycemia due to SUR1 deficiencyhyperinsulinemic hypoglycemia, familial, type 1