Autosomal dominant hyperinsulinism due to SUR1 deficiency

MedGen UID:: 900764
•Concept ID:: C4274080
•: Disease or Syndrome

Synonyms:	Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency; autosomal dominant hyperinsulinism due to SUR1 deficiency
SNOMED CT:	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (717046003); Autosomal dominant hyperinsulinism due to SUR1 deficiency (717046003)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0017184
Orphanet:	ORPHA276575

Definition

A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Diazoxide-sensitive diffuse hyperinsulinism
- Autosomal dominant hyperinsulinism due to SUR1 deficiency

Recent clinical studies

Diagnosis

Molecular mechanisms of neonatal hyperinsulinism.

Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P
Horm Res 2006;66(6):289-96. Epub 2006 Sep 26 doi: 10.1159/000095938. PMID: 17003566

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