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GCGR-related hyperglucagonemia

Disease definition

A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.

ORPHA:438274

  • Synonym(s):
    • Mahvash disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E16.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10460
  • MedDRA: -
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