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Autosomal dominant hyperinsulinism due to SUR1 deficiency
Disease definition
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.
ORPHA:276575
Classification level: Disorder- Synonym(s):
- Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: E16.1
- OMIM: 256450
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Italiano (2015) Polski ()
Detailed information
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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