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Hyperinsulinism due to HNF1A deficiency

MedGen UID:
929144
•Concept ID:
C4303475
•
Disease or Syndrome
Synonyms: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency; hyperinsulinism due to HNF1A deficiency
SNOMED CT: Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (721234004); Hyperinsulinism due to HNF1A deficiency (721234004)
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:0017935
Orphanet: ORPHA324575

Definition

A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hyperinsulinism due to HNF1A deficiency

Recent clinical studies

Therapy

Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.
Bonnefond A, Semple RK
Diabetologia 2022 Nov;65(11):1782-1795. Epub 2022 May 27 doi: 10.1007/s00125-022-05720-7. PMID: 35618782Free PMC Article

Prognosis

Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.
Bonnefond A, Semple RK
Diabetologia 2022 Nov;65(11):1782-1795. Epub 2022 May 27 doi: 10.1007/s00125-022-05720-7. PMID: 35618782Free PMC Article
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT
PLoS Med 2007 Apr;4(4):e118. doi: 10.1371/journal.pmed.0040118. PMID: 17407387Free PMC Article
Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1alpha genes.
Elbein SC, Sun J, Scroggin E, Teng K, Hasstedt SJ
Diabetes Care 2001 Mar;24(3):472-8. doi: 10.2337/diacare.24.3.472. PMID: 11289470

Clinical prediction guides

Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.
Setoh K, Terao C, Muro S, Kawaguchi T, Tabara Y, Takahashi M, Nakayama T, Kosugi S, Sekine A, Yamada R, Mishima M, Matsuda F
Nat Commun 2015 Jul 15;6:7754. doi: 10.1038/ncomms8754. PMID: 26174136Free PMC Article
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT
PLoS Med 2007 Apr;4(4):e118. doi: 10.1371/journal.pmed.0040118. PMID: 17407387Free PMC Article
Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1alpha genes.
Elbein SC, Sun J, Scroggin E, Teng K, Hasstedt SJ
Diabetes Care 2001 Mar;24(3):472-8. doi: 10.2337/diacare.24.3.472. PMID: 11289470

Supplemental Content

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    Clinical resources

    Reviews

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    • ClinVar
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    • PubMed
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