Focal KATP-Associated Hyperinsulinism

Preferred Label : Focal KATP-Associated Hyperinsulinism;

Alternative definition : NICHD: KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome.;

NCI Metathesaurus CUI : CL514286;

Détails

Origin ID

C131830;

UMLS CUI

C4329998;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Endocrine Gland [NCIt concept]
- Endocrine 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]
- Endocrine System [NCIt concept]
- Islet of Langerhans [NCIt concept]
- Pancreas [NCIt concept]
disease_mapped_to_gene
- ABCC8 Gene [NCIt concept]
- KCNJ11 Gene [NCIt concept]
related_to_genetic_biomarker
- ABCC8 Gene [NCIt concept]
- KCNJ11 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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