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

• GARD:10460
• MIM:619290
• ORDO:438274

Ontology

Human Disease   ( DOID:0112306 )