Mahvash disease (MVAH) is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic alpha cell hyperplasia. It has been reported that biallelic inactivating mutations in GCGR gene cause this disease. GCGR encodes the glucagon receptor, a G-protein-coupled receptor expressed mainly in the liver and kidney. Upon glucagon binding, it activates the stimulatory G protein (Gs) and increases cAMP level, subsequently transducing glucagon signaling involved in glucose, amino acids and lipid metabolism.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Other disorders of glucose regulation or pancreatic internal secretion
5A42 Increased secretion of glucagon
H02787 Mahvash disease
