Hyperinsulinism-hyperammonemia syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), 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. (Orphanet Rare Disease Ontology, Orphanet_35878)
External Link http://www.omim.org/entry/606762
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1 genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GLUD1 glutamate dehydrogenase 1