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Mahvash Disease
Summary
- Synonym
-
- GCGR-related hyperglucagonemia
- nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
- Definition
- An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease endocrine pancreas disease
External Links
- Disease Ontology
- DOID:0112306
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
