MCID: HRD084
MIFTS: 26

Hereditary Cerebral Amyloid Angiopathy

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Ear diseases, Mental diseases

Aliases & Classifications for Hereditary Cerebral Amyloid Angiopathy

MalaCards integrated aliases for Hereditary Cerebral Amyloid Angiopathy:

Name: Hereditary Cerebral Amyloid Angiopathy 25 55
Autosomal Dominant Cerebrovascular Amyloidosis 25
Cerebral Amyloid Angiopathy, Hereditary 73
Cerebral Amyloid Angiopathy, Familial 25
Cerebral Amyloid Angiopathy, Genetic 25
Familial Cerebral Amyloid Angiopathy 73
Hchwa 25
Caa 25

Classifications:



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Summaries for Hereditary Cerebral Amyloid Angiopathy

Genetics Home Reference : 25 Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.

MalaCards based summary : Hereditary Cerebral Amyloid Angiopathy, also known as autosomal dominant cerebrovascular amyloidosis, is related to cerebral amyloid angiopathy, cst3-related and cerebral hemorrhage. An important gene associated with Hereditary Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways/superpathways are Neuroscience and A-beta Pathways: Plaque Formation and APP Metabolism.

Related Diseases for Hereditary Cerebral Amyloid Angiopathy

Graphical network of the top 20 diseases related to Hereditary Cerebral Amyloid Angiopathy:



Diseases related to Hereditary Cerebral Amyloid Angiopathy

Symptoms & Phenotypes for Hereditary Cerebral Amyloid Angiopathy

Drugs & Therapeutics for Hereditary Cerebral Amyloid Angiopathy

Search Clinical Trials , NIH Clinical Center for Hereditary Cerebral Amyloid Angiopathy

Genetic Tests for Hereditary Cerebral Amyloid Angiopathy

Anatomical Context for Hereditary Cerebral Amyloid Angiopathy

Publications for Hereditary Cerebral Amyloid Angiopathy

Articles related to Hereditary Cerebral Amyloid Angiopathy:

(show all 13)
# Title Authors Year
1
Innovative Magnetic Resonance Imaging Markers of Hereditary Cerebral Amyloid Angiopathy at 7 Tesla. ( 29695466 )
2018
2
Cerebrovascular function in presymptomatic and symptomatic individuals with hereditary cerebral amyloid angiopathy: a case-control study. ( 27989553 )
2017
3
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. ( 27000221 )
2016
4
Early Magnetic Resonance Imaging and Cognitive Markers of Hereditary Cerebral Amyloid Angiopathy. ( 27834748 )
2016
5
Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. ( 26104569 )
2015
6
Vascular changes in Iowa-type hereditary cerebral amyloid angiopathy. ( 12480757 )
2002
7
[From gene to disease; amyloid-beta precursor protein gene instrumental in hereditary cerebral amyloid angiopathies]. ( 11552366 )
2001
8
Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype. ( 9153536 )
1997
9
No protective effect of apolipoprotein E epsilon 2 allele in Dutch hereditary cerebral amyloid angiopathy. ( 7847872 )
1995
10
Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy. ( 1335860 )
1992
11
Comparison between the Icelandic and Dutch forms of hereditary cerebral amyloid angiopathy. ( 1320529 )
1992
12
Hereditary cerebral hemorrhage with amyloidosis--Dutch type. Research-Group Hereditary Cerebral Amyloid-Angiopathy. ( 2555088 )
1989
13
Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. ( 3707586 )
1986

Variations for Hereditary Cerebral Amyloid Angiopathy

Expression for Hereditary Cerebral Amyloid Angiopathy

Search GEO for disease gene expression data for Hereditary Cerebral Amyloid Angiopathy.

Pathways for Hereditary Cerebral Amyloid Angiopathy

Pathways related to Hereditary Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 APP CST3
2 9.98 APP CST3

GO Terms for Hereditary Cerebral Amyloid Angiopathy

Cellular components related to Hereditary Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.16 APP CST3
2 axon GO:0030424 8.96 APP CST3
3 endoplasmic reticulum lumen GO:0005788 8.62 APP CST3

Biological processes related to Hereditary Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.37 APP CST3
2 post-translational protein modification GO:0043687 9.32 APP CST3
3 cellular protein metabolic process GO:0044267 9.26 APP CST3
4 negative regulation of endopeptidase activity GO:0010951 9.16 APP CST3
5 response to oxidative stress GO:0006979 8.96 APP CST3
6 negative regulation of peptidase activity GO:0010466 8.62 APP CST3

Molecular functions related to Hereditary Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 8.62 APP CST3

Sources for Hereditary Cerebral Amyloid Angiopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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