Details of Disease

General Information of Disease (ID: DIS1KAQI)

Disease Name Cerebral amyloid angiopathy
Synonyms
CAA, familial; cerebral amyloid angiopathy, familial; cerebral amyloid angiopathy, genetic; HCHWA; hereditary cerebral hemorrhage with amyloidosis - Dutch type; dutch hereditary cerebral amyloid angiopathy; hereditary cerebral haemorrhage with amyloidosis - Dutch type
Disease Class 5D00: Amyloidosis
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISAB237: Cerebrovascular disease
DIS1GS6H: Hereditary amyloidosis
DIS1KAQI: Cerebral amyloid angiopathy
ICD Code
ICD-11
ICD-11: 5D00.0
ICD-10
ICD-10: I68.0
Expand ICD-11
'5D00.0
Expand ICD-10
'I68.0
Disease Identifiers
MONDO ID
MONDO_0005620
MESH ID
D028243
UMLS CUI
C1510489
MedGen ID
267610
HPO ID
HP:0011970
Orphanet ID
85458
SNOMED CT ID
724357007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
18F-AV-45 dimer DMAPI2G Investigative NA [1]
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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 Strong Biomarker [2]
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References

1 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2402).
2 A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.PLoS Genet. 2008 Jun 20;4(6):e1000099. doi: 10.1371/journal.pgen.1000099.