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Start free with EleplanAutosomal dominant hyperinsulinism due to Kir6.2 deficiency
ORPHA:276580Disease
Also called Dominant KATP hyperinsulinism due to Kir6.2 deficiency · Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
What it is
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
6Common30–79%
11Sometimes5–29%
11- Feeding difficulties
- Hepatomegaly
- Hypertrophic cardiomyopathy
- Hypoglycemic coma
- Lethargy
- Loss of consciousness
- Maternal diabetes
- Muscle weakness
and 3 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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