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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.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about GCGR-related hyperglucagonemia
Features include always present findings: Increased glucagon level, Vertigo, Pancreatic alpha-cell hyperplasia, and Palpitations; and common findings: Recurrent pancreatitis, Type II diabetes mellitus, Abdominal pain, and Cholelithiasis and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 5 | Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Abdominal pain |
Ears | 1 | Vertigo |
Hormones | 1 | Type II diabetes mellitus |
GCGR encodes glucagon receptor (477 aa). G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis.
GCGR-related hyperglucagonemia is associated with mutations in the GCGR gene on chromosome 17.
GCGR is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 7.8.
Genetic testing for GCGR is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for GCGR-related hyperglucagonemia.
9 publications have been identified in PubMed for GCGR-related hyperglucagonemia. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (22%).
Bugallo FM (2026). [PMID: 41649336](https://pubmed.ncbi.nlm.nih.gov/41649336/). *Arch Endocrinol Metab*. [Case Report / Case Series]
Onieva Carbajo R (2026). [PMID: 41534313](https://pubmed.ncbi.nlm.nih.gov/41534313/). *Rev Esp Patol*. [Review / Meta-Analysis]
Jia J (2025). [PMID: 40075066](https://pubmed.ncbi.nlm.nih.gov/40075066/). *Nat Commun*. [Basic Science / Preclinical]
Ferreira B (2025). [PMID: 40649254](https://pubmed.ncbi.nlm.nih.gov/40649254/). *Molecules*. [Basic Science / Preclinical]
Vara-Luiz F (2025). [PMID: 39101586](https://pubmed.ncbi.nlm.nih.gov/39101586/). *Am J Gastroenterol*. [Case Report / Case Series]
Kuiper J (2025). [PMID: 40424057](https://pubmed.ncbi.nlm.nih.gov/40424057/). *Endocr Relat Cancer*. [Case Report / Case Series]
Yu R (2024). [PMID: 39239240](https://pubmed.ncbi.nlm.nih.gov/39239240/). *World J Radiol*. [Other]
Ferreira-Silva J (2024). [PMID: 38836119](https://pubmed.ncbi.nlm.nih.gov/38836119/). *GE Port J Gastroenterol*. [Review / Meta-Analysis]
Xu Y (2024). [PMID: 39170309](https://pubmed.ncbi.nlm.nih.gov/39170309/). *Heliyon*. [Basic Science / Preclinical]