Glucagon Cell Hyperplasia and Neoplasia

Preferred Label : Glucagon Cell Hyperplasia and Neoplasia;

NCIt synonyms : Mahvash Syndrome; Mahvash Disease; GCHN;

NCIt definition : An extremely rare autosomal recessive inherited disorder caused by mutations in the GCGR gene. It is characterized by the presence of islet glucagon cell hyperplasia and glucagon cell tumors.;

NCI Metathesaurus CUI : CL495613;

Details

Origin ID

C157461;

UMLS CUI

C4763635;

Currated CISMeF NLP mapping
- GCGR-related hyperglucagonemia [ORDO Disease]
- Glucagon receptor-related hyperglucagonemia (disorder) [SNOMED CT concept]
- Mahvash Disease [DO Concept]
- Mahvash disease [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glucagon receptor-related hyperglucagonemia (disorder) [SNOMED CT concept]
- Mahvash disease [OMIM Phenotype]
disease_has_associated_disease
- Islet Glucagon Cell Hyperplasia [NCIt concept]
- Pancreatic Glucagonoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- GCGR Gene Mutation [NCIt concept]
disease_mapped_to_gene
- GCGR Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- GCGR Gene [NCIt concept]
- GCGR wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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