Details of Disease

General Information of Disease (ID: DISP0IHP)

Disease Name Hyperinsulinism-hyperammonemia syndrome
Synonyms
HHF6; hyperinsulinemic hypoglycemia familial 6; hyperinsulinism hyperammonemia syndrome; HA/hi syndrome; hyperinsulinemic hypoglycemia, familial, 6; GDH hyperinsulinism; GLUD1 hyperinsulinism; hyperinsulinemic hypoglycemia, familial, type 6; hyperinsulinism-hyperammonemia syndrome; hyperinsulinism/hyperammonemia syndrome; glutamate dehydrogenase 1 hyperinsulinism; hi/HA syndrome
Definition
Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.
Disease Hierarchy
DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
DISKD7HM: Urea cycle disorder or inherited hyperammonemia
DISP0IHP: Hyperinsulinism-hyperammonemia syndrome
Disease Identifiers
MONDO ID
MONDO_0011717
MESH ID
C538375
UMLS CUI
C1847555
OMIM ID
606762
MedGen ID
376153
Orphanet ID
35878
SNOMED CT ID
718106009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MTG1 OTC9U1LI Limited Biomarker [1]
GLUD1 OTXKOCUH Definitive Autosomal dominant [2]
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References

1 Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.Proteins. 2019 Jan;87(1):41-50. doi: 10.1002/prot.25620. Epub 2018 Nov 18.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.