Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism

Preferred Label : Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism;

NCIt related terms : HADH-Associated Hyperinsulinism; SCHAD Hyperinsulinism;

Alternative definition : NICHD: Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent.;

NCI Metathesaurus CUI : CL514669;

Details

Origin ID

C131837;

UMLS CUI

C4330696;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Islet Cell [NCIt concept]
disease_has_normal_tissue_origin
- Islet of Langerhans [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Islet of Langerhans [NCIt concept]
disease_mapped_to_gene
- HADH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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