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Article

Challenging the recessive paradigm of Mahvash disease: heterozygous phenotypes from a novel splice-site variant.

Archives of endocrinology and metabolism - 1 Apr 2026

Bugallo Francisco Martínez, de Gema García, Prieto-Morín Carol

Abstract excerpt

Mahvash disease is a rare autosomal recessive condition caused by biallelic inactivating variants in the GCGR gene, impairing glucagon signaling and leading to alpha-cell hyperplasia and pancreatic neuroendocrine tumors (PNETs). Fewer than 20 cases have been reported, and the clinical impact of heterozygous variants remains unclear. Case Presentation: We report a family with a novel GCGR splice-site variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41649336
DOI: 10.20945/2359-4292-2026-0005
PMCID: PMC12892861

Genes

GCGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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