Hyperinsulinemic Hypoglycemia, Familial, 5

Alternative Names

  • HHF5

Associated Genes

Insulin Receptor
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

OMIM Number

609968

Mode of Inheritance

Autosomal dominant

Gene Map Locus

19p13.2

Description

Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609968.1.1United Arab EmiratesMaleYesNo Hypoglycemia; Pulmonic stenosis; Patent ...NM_000208.4:c.3356G>AHeterozygousAutosomal, DominantSethi et al. 2020 Family history inclu...
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