OBO ID: DOID:0112306
Term Name: Mahvash Disease Search Ontology:
Synonyms:
  • GCGR-related hyperglucagonemia
  • nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
Definition: An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of GCGR on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/29702528/
References:
  • GARD:10460
  • ORDO:438274
Ontology: Human Disease   (DOID:0112306)
OTHER Mahvash Disease PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None