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GTR Home > Conditions/Phenotypes > GCGR-related hyperglucagonemia

GCGR-related hyperglucagonemia

Synonyms
ALPHA-CELL HYPERPLASIA WITH GLUCAGONEMIA; Mahvash disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mahvash disease (MVAH) is an autosomal recessive disorder caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors (PNETs). [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GGR, GL-R, MVAH, GCGR
    Summary: glucagon receptor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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