familial hyperinsulinemic hypoglycemia 7

Summary
Synonym
  • EIHI
  • HHF7
  • exercise-induced hyperinsulinemic hypoglycemia
  • exercise-induced hyperinsulinism
  • hyperinsulinism due to SLC16A1 deficiency
  • hyperinsulinism due to monocarboxylate transporter 1 deficiency
Definition
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
Super Class
autosomal dominant disease hyperinsulinemic hypoglycemia
Disease Ontology
DOID:0070214
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024