GCGR-related hyperglucagonemia
Findings
No curated finding names GCGR-related hyperglucagonemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018582), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased glucagon levelHPOHP:0030688
- 3 of 3 reported patients
- Obligate (100% of cases)
- PalpitationsHPOHP:0001962
- 1 of 1 reported patient
- Pancreatic alpha-cell hyperplasiaHPOHP:4000061
- 3 of 3 reported patients
- VertigoHPOHP:0002321
- 1 of 1 reported patient
- Abdominal painHPOHP:0002027
- 1 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abnormal biliary tract morphologyHPOHP:0012440
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GCGRHGNC:4192
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
7 names
Resolves to: GCGR-related hyperglucagonemia
- Also called
- alpha-cell hyperplasia with glucagonemiaMahvash diseaseMVAHnesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumornesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumournesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumornesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour