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autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes 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).
Mondo Term and Equivalent IDs
MONDO:0017185: autosomal dominant hyperinsulinism due to Kir6.2 deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:276580
SCTID:717045004
UMLS:C4274081
UMLS:CN202626
MONDO:0017185
High level summary of knowledge for a disease, including descriptions and datasource references.