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Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Disease definition
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.
ORPHA:79644
Classification level: Disorder- Synonym(s):
- Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: -
- ICD-10: E16.1
- OMIM: 601820
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
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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