CAA
MCID: HRD084
MIFTS: 27

Hereditary Cerebral Amyloid Angiopathy (CAA)

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

Aliases & Classifications for Hereditary Cerebral Amyloid Angiopathy

MalaCards integrated aliases for Hereditary Cerebral Amyloid Angiopathy:

Name: Hereditary Cerebral Amyloid Angiopathy 26 56
Autosomal Dominant Cerebrovascular Amyloidosis 26
Cerebral Amyloid Angiopathy, Hereditary 74
Cerebral Amyloid Angiopathy, Familial 26
Cerebral Amyloid Angiopathy, Genetic 26
Familial Cerebral Amyloid Angiopathy 74
Hchwa 26
Caa 26

Classifications:



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Summaries for Hereditary Cerebral Amyloid Angiopathy

Genetics Home Reference : 26 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 amyloid angiopathy, app-related. 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

Diseases in the Hereditary Cerebral Amyloid Angiopathy family:

Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 2
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, App-Related

Diseases related to Hereditary Cerebral Amyloid Angiopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 32.5 APP CST3
2 cerebral amyloid angiopathy, app-related 32.3 APP CST3
3 cerebral hemorrhage 30.1 APP CST3
4 amyloidosis 29.7 APP CST3
5 alzheimer disease 29.2 APP CST3
6 aural atresia, congenital 12.1
7 cerebral amyloid angiopathy, itm2b-related, 2 11.6
8 lysinuric protein intolerance 11.4
9 congenital analbuminemia 11.4
10 multiloculated renal cyst 10.3
11 schizophrenia 10.2
12 autosomal dominant cerebellar ataxia 10.2
13 dementia 10.1
14 breast cancer 10.0
15 colorectal cancer 10.0
16 prostate cancer 10.0
17 spinocerebellar ataxia 2 10.0
18 prostate cancer, hereditary, 8 10.0
19 prostate cancer, hereditary, 6 10.0
20 gastric cancer 10.0
21 thalassemia 10.0
22 catecholaminergic polymorphic ventricular tachycardia 10.0
23 siderosis 10.0
24 schistosomiasis 10.0
25 ischemia 10.0
26 superficial siderosis 10.0
27 hepatocellular carcinoma 9.8
28 pancreatic cancer 9.8
29 ataxia and polyneuropathy, adult-onset 9.8
30 aging 9.8
31 cardiomyopathy, dilated, 1b 9.8
32 timothy syndrome 9.8
33 alpha-thalassemia 9.8
34 caronte 9.8
35 muscular dystrophy, congenital, 1b 9.8
36 gastrointestinal stromal tumor 9.8
37 pulmonary disease, chronic obstructive 9.8
38 spinocerebellar ataxia 17 9.8
39 coronary heart disease 1 9.8
40 myocardial infarction 9.8
41 acute myocardial infarction 9.8
42 bipolar disorder 9.8
43 brain ischemia 9.8
44 diabetes mellitus 9.8
45 dilated cardiomyopathy 9.8
46 hereditary spastic paraplegia 9.8
47 ameloblastoma 9.8
48 heart disease 9.8
49 palindromic rheumatism 9.8
50 neonatal diabetes mellitus 9.8

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 15)
# Title Authors Year
1
Multiple Approaches to Diffusion Magnetic Resonance Imaging in Hereditary Cerebral Amyloid Angiopathy Mutation Carriers. ( 30717612 )
2019
2
Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy. ( 30868685 )
2019
3
Innovative Magnetic Resonance Imaging Markers of Hereditary Cerebral Amyloid Angiopathy at 7 Tesla. ( 29695466 )
2018
4
Cerebrovascular function in presymptomatic and symptomatic individuals with hereditary cerebral amyloid angiopathy: a case-control study. ( 27989553 )
2017
5
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. ( 27000221 )
2016
6
Early Magnetic Resonance Imaging and Cognitive Markers of Hereditary Cerebral Amyloid Angiopathy. ( 27834748 )
2016
7
Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. ( 26104569 )
2015
8
Vascular changes in Iowa-type hereditary cerebral amyloid angiopathy. ( 12480757 )
2002
9
Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype. ( 9153536 )
1997
10
No protective effect of apolipoprotein E epsilon 2 allele in Dutch hereditary cerebral amyloid angiopathy. ( 7847872 )
1995
11
Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy. ( 1335860 )
1992
12
Comparison between the Icelandic and Dutch forms of hereditary cerebral amyloid angiopathy. ( 1320529 )
1992
13
Hereditary cerebral hemorrhage with amyloidosis--Dutch type. Research-Group Hereditary Cerebral Amyloid-Angiopathy. ( 2555088 )
1989
14
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
15
Autosomal dominant cerebrovascular amyloidosis: properties of peripheral blood lymphocytes. ( 7396423 )
1980

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 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 post-translational protein modification GO:0043687 9.26 APP CST3
2 cellular protein metabolic process GO:0044267 9.16 APP CST3
3 negative regulation of endopeptidase activity GO:0010951 8.96 APP CST3
4 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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