Hyperinsulinemic Hypoglycemia, Familial, 3

Alternative Names

  • HHF3

Associated Genes

Glucokinase
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Diabetes mellitus

OMIM Number

602485

Mode of Inheritance

Autosomal dominant

Gene Map Locus

7p13

Description

A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
606176.4United Arab EmiratesMaleYesYes Premature birth; Intraventricular hemorr...NM_000162.5:c.635_637delHeterozygousAutosomal, DominantSaleh et al. 2021 Father and twin brot...
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