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Article

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Pediatric diabetes - 1 Aug 2018

Tung Joanna Yuet-Ling, Boodhansingh Kara, Stanley Charles A, De León Diva D

Abstract excerpt

BACKGROUND: Dominant inactivating mutations in HNF1A and HNF4A have been described to cause hyperinsulinism (HI) before evolving to diabetes. However, information available in the literature regarding the clinical phenotype is limited. OBJECTIVE: To report the prevalence of HNF1A and HNF4A mutations in a large cohort of children with HI, and to describe their genotypes and phenotypes. DESIGN: Retrospective...

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Source

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Identifiers

PMID: 29493090
DOI: 10.1111/pedi.12655
PMCID: PMC6030428

Genes

ABCC8
GCK
GLUD1
HADH
KCNJ11
UCP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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