ZFIN Human Disease: Mahvash Disease

OBO ID: DOID:0112306

Term Name:	Mahvash Disease		Search Ontology:
Synonyms:	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. https://pubmed.ncbi.nlm.nih.gov/29702528/
References:	GARD:10460 OMIM:619290 ORDO:438274
Ontology:	Human Disease ( DOID:0112306 )

Relationships

is a type of:	autosomal recessive disease endocrine pancreas disease autosomal recessive disease endocrine pancreas disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GCGR	gcgrb gcgra	Mahvash disease	619290

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None