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. [ Orphanet:438274 ]
Synonyms: nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor alpha-cell hyperplasia with glucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour MVAH nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor Mahvash disease
Term information
- MEDGEN:1677024 (MONDO:equivalentTo)
- Orphanet:438274 (MONDO:equivalentTo)
- OMIM:619290 (MONDO:equivalentTo)
- GARD:10460 (MONDO:GARD)
- DOID:0112306 (MONDO:equivalentTo)
- UMLS:C4763635 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://omim.org/entry/619290
http://linkedlifedata.com/resource/umls/id/C4763635
http://identifiers.org/medgen/1677024
http://www.orpha.net/ORDO/Orphanet_438274
http://purl.obolibrary.org/obo/DOID_0112306