Monocarboxylate Transporter 1 Hyperinsulinism

Preferred Label : Monocarboxylate Transporter 1 Hyperinsulinism;

NCIt related terms : MCT1 Hyperinsulinism; Exercise-induced Hyperinsulinism;

Alternative definition : NICHD: Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise.;

Details

Origin ID

C131839;

UMLS CUI

C1864902;

Currated CISMeF NLP mapping
- Exercise-induced hyperinsulinism [ORDO Disease]
- Exercise-induced hyperinsulinism [ICD-11 More detail]
- Exercise-induced hyperinsulinism (disorder) [SNOMED CT concept]
- Hyperinsulinemic hypoglycemia, familial, 7 [OMIM Phenotype]
- Hyperinsulinemic hypoglycemia, familial, 7 [MeSH concept]
- familial hyperinsulinemic hypoglycemia 7 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 7 [MeSH Supplementary Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exercise-induced hyperinsulinism (disorder) [SNOMED CT concept]
- Hyperinsulinemic hypoglycemia, familial, 7 [OMIM Phenotype]
- Hyperinsulinemic hypoglycemia, familial, 7 [MeSH concept]
- familial hyperinsulinemic hypoglycemia 7 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 7 [MeSH Supplementary Concept]
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
- SLC16A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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