HCHWA
MCID: CRB019
MIFTS: 60

Cerebral Amyloid Angiopathy (HCHWA) malady

Genetic diseases, Cardiovascular diseases, Neuronal diseases, Bone diseases, Rare diseases categories

Summaries for Cerebral Amyloid Angiopathy

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

MalaCards: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, icelandic type, is related to hereditary cerebral amyloid angiopathy and alzheimer's disease, and has symptoms including intracranial/cerebral/meningeal hemorrhage, cerebral vascular anomalies and early death in adulthood. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (cystatin C), and among its related pathways are A-beta Plaque Formation and APP Metabolism and Reelin Pathway (Cajal-Retzius cells). The compounds thioflavine s and metrifonate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and smooth muscle, and related mouse phenotypes are other and muscle.

Description from OMIM:48 605714,105150

Aliases & Classifications for Cerebral Amyloid Angiopathy

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9Disease Ontology, 10diseasecard, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 50Orphanet, 36MeSH, 59SNOMED-CT, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult
hereditary cerebral hemorrhage with amyloidosis, icelandic type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

cerebral amyloid angiopathy 9 10 48 11 46 63
hereditary cerebral hemorrhage with amyloidosis, icelandic type 50
hereditary cerebral haemorrhage with amyloidosis - dutch type 9
hereditary cerebral hemorrhage with amyloidosis 50
dutch hereditary cerebral amyloid angiopathy 9
hereditary cystatin c amyloid angiopathy 50
cerebral amyloid angiopathy, hereditary 63
hchwa, icelandic type 50
hchwa 50


External Ids:

Disease Ontology9 DOID:9246
MeSH36 D028243
SNOMED-CT59 56453003
SNOMED-CT via Orphanet60 45639009
ICD10 via Orphanet27 E85.4+, I68.0*
ICD1026 I68.0

Related Diseases for Cerebral Amyloid Angiopathy

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18GeneCards, 19GeneDecks
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Diseases in the Cerebral Amyloid Angiopathy family:

Hereditary Cerebral Amyloid Angiopathy Cerebral Amyloid Angiopathy, Prnp-Related

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary cerebral amyloid angiopathy31.5APP
2alzheimer's disease31.4APP, HSPB6, CST3, ITM2B, APOE, SERPINA3
3dementia31.3PRNP, CST3, SERPINA3, APP, APOE, ITM2B
4vascular dementia30.8SERPINA3, PRNP, APP, CST3, APOE
5amyloidosis30.8PRNP, APOE, CST3, ITM2B, APP, SERPINA3
6atherosclerosis30.6PRNP, APOE, CST3
7creutzfeldt-jakob disease30.5APOE, PRNP, APP, CST3, SERPINA3
8dementia familial british30.4APP, ITM2B
9progressive supranuclear palsy30.4APP, PRNP, APOE
10cerebrovascular disease30.3PRNP, APOE, SERPINA3, CST3
11cerebritis11.6
12siderosis10.7
13superficial siderosis10.7
14hypertension10.6
15neuronitis10.5
16amyloidosis cerebral10.5
17hereditary cerebral hemorrhage with amyloidosis10.5
18primary angiitis of the central nervous system10.5
19cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.5
20granulomatous angiitis10.5
21arteriosclerosis10.5
22polyneuropathy10.5
23vasculitis10.5
24endotheliitis10.5
25hemosiderosis10.4
26meningitis10.4
27subcortical arteriosclerotic encephalopathy10.4
28cerebral amyloid angiopathy, prnp-related10.4
29pancreatitis10.3
30choroiditis10.2
31cadasil10.2
32moyamoya disease10.2
33breast cancer10.2
34central nervous system vasculitis10.2
35ischemia10.2
36migraine10.2
37motor neuron disease10.2
38obesity10.2
39retinitis10.2
40vascular disease10.2
41rheumatoid vasculitis10.2
42brain injury10.2
43hypoxia10.2
44paresthesia10.2
45traumatic brain injury10.2
46senile systemic amyloidosis10.2
47dementia pugilistica10.2
48kuru10.1PRNP
49inclusion body myositis10.1APP
50genetic prion diseases10.1PRNP

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



Diseases related to cerebral amyloid angiopathy

Symptoms for Cerebral Amyloid Angiopathy

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

105150

Clinical features from OMIM:

605714,105150

Symptoms:

50
  • intracranial/cerebral/meningeal hemorrhage
  • cerebral vascular anomalies
  • early death in adulthood
  • transient cerebral ischemia/stroke
  • autosomal dominant inheritance

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Cerebral Amyloid Angiopathy

Drug clinical trials:

Search ClinicalTrials for Cerebral Amyloid Angiopathy

Search NIH Clinical Center for Cerebral Amyloid Angiopathy

Search CenterWatch for Cerebral Amyloid Angiopathy

Genetic Tests for Cerebral Amyloid Angiopathy

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Anatomical Context for Cerebral Amyloid Angiopathy

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34MalaCards
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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

34
Brain, Cortex, Smooth muscle, Bone, Endothelial, Pons, Breast, Spinal cord, Liver

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1APOE, APP, PRNP
2MP:00053698.6APOE, APP, PRNP, CST3
3MP:00036318.3CST3, ITM2B, PRNP, APP, APOE
4MP:00030127.8ITM2B, IFNAR1, PRNP, APP, APOE

Publications for Cerebral Amyloid Angiopathy

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Sources:
53PubMed
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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Corticosteroid therapy in a patient with cerebral amyloid angiopathy-related inflammation. (23497126)
2013
2
Innate immunity receptor CD36 promotes cerebral amyloid angiopathy. (23382216)
2013
3
Recurrent stereotyped episodes in cerebral amyloid angiopathy: response to migraine prophylaxis in two patients. (23741226)
2013
4
Murine cerebrovascular cells as a cell culture model for cerebral amyloid angiopathy: isolation of smooth muscle and endothelial cells from mouse brain. (22528096)
2012
5
Cerebral amyloid angiopathy. (24029086)
2012
6
Predicting sites of new hemorrhage with amyloid imaging in cerebral amyloid angiopathy. (22786597)
2012
7
Cerebral amyloid angiopathy-related inflammation presenting with steroid-responsive higher brain dysfunction: case report and review of the literature. (21914214)
2011
8
Review: sporadic cerebral amyloid angiopathy. (20946241)
2011
9
Cerebral amyloid angiopathy, blood-brain barrier disruption and amyloid accumulation in SAMP8 mice. (21411981)
2011
10
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
11
Superficial siderosis in cerebral amyloid angiopathy. (21654928)
2011
12
Good outcome in a patient treated for cerebral amyloid angiopathy presenting as an expansive process with inflammation and contrast enhancement. (21415149)
2011
13
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
14
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
15
Case 159: cerebral amyloid angiopathy-related inflammation. (20574106)
2010
16
Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (20158508)
2010
17
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
18
Descriptive analysis of the Boston criteria applied to a Dutch-type cerebral amyloid angiopathy population. (19556530)
2009
19
Retinal vascular abnormalities in patients with cerebral amyloid angiopathy. (19851067)
2009
20
Small heat shock proteins associated with cerebral amyloid angiopathy of hereditary cerebral hemorrhage with amyloidosis (Dutch type) induce interleukin-6 secretion. (17629591)
2009
21
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. (18363936)
2008
22
Cortical petechial hemorrhage, subarachnoid hemorrhage and corticosteroid-responsive leukoencephalopathy in a patient with cerebral amyloid angiopathy. (18266123)
2008
23
Unexpectedly low prevalence of intracerebral hemorrhages in sporadic cerebral amyloid angiopathy: an autopsy study. (18202817)
2008
24
Genetic factors for cerebral amyloid angiopathy]. (19069161)
2008
25
Cerebral amyloid angiopathy with symptomatic or occult subarachnoid haemorrhage. (17179713)
2007
26
Oxidative damage of 14-3-3 zeta and gamma isoforms in Alzheimer's disease and cerebral amyloid angiopathy. (17445990)
2007
27
Relationships in Alzheimer's disease between the extent of Abeta deposition in cerebral blood vessel walls, as cerebral amyloid angiopathy, and the amount of cerebrovascular smooth muscle cells and collagen. (16640651)
2006
28
Genetic-morphologic association study: association between the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy. (15634227)
2005
29
Clinical manifestations of cerebral amyloid angiopathy-related inflammation. (14755729)
2004
30
Cerebral amyloid angiopathy and dementia. (15876981)
2004
31
Contribution of cerebral amyloid angiopathy to Alzheimer's disease. (14707293)
2004
32
Cerebral amyloid angiopathy presenting as a posterior leukoencephalopathy: a case report and review of the literature. (15626840)
2004
33
Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease. (15090562)
2004
34
Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. (12557012)
2003
35
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
36
Cerebral amyloid angiopathy as a cause of recurrent intracerebral hemorrhage. (11908188)
2002
37
Cerebral amyloid angiopathy presenting as nonhemorrhagic diffuse encephalopathy: neuropathologic and neuroradiologic manifestations in one case. (11415900)
2001
38
First international conference on cerebral amyloid angiopathy, October 5-6, 2000, Boston, MA. (11409036)
2001
39
Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. (10644793)
2000
40
Cerebral amyloid angiopathies]. (11094619)
2000
41
Gelsolin-related spinal and cerebral amyloid angiopathy. (10072044)
1999
42
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. (9748011)
1998
43
Diagnosis of cerebral amyloid angiopathy. Sensitivity and specificity of cortical biopsy. (9227694)
1997
44
Characterization of amyloid beta protein species in cerebral amyloid angiopathy of a squirrel monkey by immunocytochemistry and enzyme-linked immunosorbent assay. (9295214)
1997
45
Cerebral amyloid angiopathy. Frequency, significance and immunohistochemistry. (7692958)
1993
46
Cerebral amyloid angiopathy: a significant cause of cerebellar as well as lobar cerebral hemorrhage in the elderly. (8336159)
1993
47
Cerebral amyloid angiopathy with granulomatous angiitis ameliorated by steroid-cytoxan treatment. (1394245)
1992
48
Senile plaques in cerebral amyloid angiopathy show accumulation of amyloid precursor protein without cytoskeletal abnormalities. (1280524)
1992
49
Alzheimer's disease, cerebral amyloid angiopathy, and dementia of acute onset. (1911906)
1991
50
Absence of the cystatin C amyloid in the cerebral amyloid angiopathy, senile plaque, and extra-CNS amyloid deposits of aged Japanese. (2782031)
1989

Variations for Cerebral Amyloid Angiopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy:

65
id Symbol AA change Variation ID SNP ID
1CST3p.Leu94GlnVAR_002207rs28939068

Clinvar genetic disease variations for Cerebral Amyloid Angiopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1CST3NM_000099.3(CST3): c.281T> A (p.Leu94Gln)single nucleotide variantPathogenicrs28939068GRCh37Chr 20, 23615967: 23615967

Expression for genes affiliated with Cerebral Amyloid Angiopathy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebral Amyloid Angiopathy

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

Compounds for genes affiliated with Cerebral Amyloid Angiopathy

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB
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Compounds related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1thioflavine s4610.1APOE, APP
2metrifonate4610.1APOE, APP
324s-hydroxy-cholesterol4610.1APP, APOE
4leupeptin4610.1CST3, APP
5thioflavin t4610.1APP, APOE
6tacrine46 1211.1APP, APOE
7donepezil46 52 25 1213.1APP, APOE
8captopril46 62 52 30 1214.1APP, CST3
9galantamine46 52 1212.1APOE, APP
106-hydroxydopamine4610.0APP, CST3
11kininogen4610.0APP, CST3
12guanidine46 25 1211.9PRNP, APOE
13ibuprofen46 30 52 25 1213.9APP, APOE
14ganglioside469.8APP, PRNP
154-hydroxynonenal46 2510.8APOE, APP
16betacarotene469.7SERPINA3, APOE
17formate469.7APP, APOE, PRNP
18cyclosporin a46 30 6211.6APOE, APP, CST3
19sodium dodecylsulfate469.6APOE, PRNP, APP
20vitamin b12469.6SERPINA3, CST3, APOE
21glutamine469.6APP, APOE, CST3
22silver469.6SERPINA3, CST3
23methotrexate52 46 1211.6SERPINA3, CST3, APP
24chloroquine46 3 52 30 1213.6APOE, APP
25methionine469.5PRNP, CST3, SERPINA3
26guanidine hydrochloride469.5PRNP, APOE, SERPINA3
27acetylcholine46 52 30 25 1213.5SERPINA3, APP, APOE
28polysaccharide469.5CST3, SERPINA3, PRNP
29dopamine46 30 25 1212.4APOE, APP, SERPINA3
30polyethylene glycol469.4APOE, CST3
31paraffin469.4APOE, SERPINA3, PRNP
32superoxide46 2510.4SERPINA3, PRNP, CST3
33leucine469.3CST3, PRNP, SERPINA3
34aspartate469.3APOE, APP, PRNP, CST3
35folate469.3SERPINA3, CST3, APOE, APP
36vitamin a46 25 1211.3APP, APOE, SERPINA3, CST3
37h2o2469.2PRNP, APP, APOE
38creatinine469.2APOE, APP, SERPINA3, CST3
39iron46 2510.2CST3, PRNP, SERPINA3, APP
40cysteine469.2APOE, APP, SERPINA3, CST3
41valine469.2PRNP, SERPINA3, APOE, APP
42heparin46 30 25 1212.1APOE, PRNP, SERPINA3, APP
43cholesterol46 30 25 1211.8SERPINA3, CST3, PRNP, APP, APOE
44arginine468.8PRNP, SERPINA3, APP, APOE, CST3
45lipid468.8CST3, PRNP, APOE, SERPINA3, APP
46alanine468.0CST3, APP, APOE, PRNP, SERPINA3, IFNAR1
47serine467.5CST3, IFNAR1, HSPB6, APOE, APP, SERPINA3

GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

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17Gene Ontology
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Cellular components related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:0057948.6PRNP, APOE, ITM2B, APP
2extracellular regionGO:0055767.9CST3, APOE, APP, SERPINA3, ITM2B
3extracellular vesicular exosomeGO:0700627.6APOE, APP, SERPINA3, PRNP, ITM2B, CST3

Biological processes related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:0069799.6PRNP, APP
2cellular copper ion homeostasisGO:0068789.5PRNP, APP
3cholesterol metabolic processGO:0082039.4APP, APOE
4negative regulation of endopeptidase activityGO:0109519.2CST3, SERPINA3, APP

Molecular functions related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048679.6APP, SERPINA3
2beta-amyloid bindingGO:0015409.1CST3, ITM2B, APOE
3identical protein bindingGO:0428028.9PRNP, APP, APOE
4protein bindingGO:0055156.3HSPB6, APOE, APP, SERPINA3, PRNP, IFNAR1

Products for genes affiliated with Cerebral Amyloid Angiopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebral Amyloid Angiopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet