Search Ontology:
Human Disease

Mahvash Disease

Term ID
DOID:0112306
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 the GCGR gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/29702528/
References
Ontology
Human Disease   ( DOID:0112306 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models