Details of Disease | DrugMAP

General Information of Disease (ID: DIS6RAZV)

Disease Name	GCGR-related hyperglucagonemia
Synonyms	alpha-cell hyperplasia with glucagonemia; nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour; MVAH; nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour; Mahvash disease
Definition	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.
Disease Hierarchy	DIS3U0LK: Pancreatic tumour DIS6RAZV: GCGR-related hyperglucagonemia
Disease Identifiers	MONDO ID MONDO_0018582 UMLS CUI C4763635 OMIM ID 619290 MedGen ID 1677024 Orphanet ID 438274 SNOMED CT ID 1228875006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCGR	TT9O6WS	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GCGR	OTQ94KWZ	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor. Pancreas. 2009 Nov;38(8):941-6. doi: 10.1097/MPA.0b013e3181b2bb03.