Details of Disease

General Information of Disease (ID: DISYT3QM)

Disease Name Islet cell adenomatosis
Synonyms INSDM; nesidioblastosis; Insulinomatosis and diabetes mellitus; INSULINOMATOSIS and diabetes mellitus; islet cell adenomatosis
Definition A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3VD5T: Endocrine pancreas disorder
DISYT3QM: Islet cell adenomatosis
Disease Identifiers
MONDO ID
MONDO_0007834
UMLS CUI
C1578917
OMIM ID
147630
MedGen ID
293643
SNOMED CT ID
274944000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAFA OTBCA105 Strong Genetic Variation [1]
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References

1 MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16.