Details of Disease

General Information of Disease (ID: DISO8UGV)

Disease Name ITM2B amyloidosis
Synonyms ITM2B-related cerebral amyloid angiopathy; ITM2B-related amyloidosis; familial cerebral amyloid angiopathy
Disease Hierarchy
DIS1GS6H: Hereditary amyloidosis
DISPN7D2: Inherited neurodegenerative disorder
DISO8UGV: ITM2B amyloidosis
Disease Identifiers
MONDO ID
MONDO_0018591
MESH ID
D028243
UMLS CUI
C0268393
MedGen ID
82800
Orphanet ID
439254

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
CST3 OTNZ6AO4 moderate Genetic Variation [1]
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References

1 Endogenous aggregates of amyloidogenic cystatin C variant are removed by THP-1 cells in vitro and induce differentiation and a proinflammatory response.Neurobiol Aging. 2013 May;34(5):1389-96. doi: 10.1016/j.neurobiolaging.2012.11.012. Epub 2012 Dec 25.