HCHWA
MCID: CRB019
MIFTS: 60

Cerebral Amyloid Angiopathy (HCHWA) malady

Genetic diseases, Cardiovascular diseases, Neuronal diseases, Bone diseases, Rare diseases categories
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Summaries for Cerebral Amyloid Angiopathy

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 605714,105150

Aliases & Classifications for Cerebral Amyloid Angiopathy

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8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 45Novoseek, 62UMLS, 49Orphanet, 35MeSH, 58SNOMED-CT, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 8 9 47 10 45 62
hereditary cerebral hemorrhage with amyloidosis, icelandic type 49
hereditary cerebral haemorrhage with amyloidosis - dutch type 8
hereditary cerebral hemorrhage with amyloidosis 49
dutch hereditary cerebral amyloid angiopathy 8
hereditary cystatin c amyloid angiopathy 49
cerebral amyloid angiopathy, hereditary 62
hchwa, icelandic type 49
hchwa 49


External Ids:

Disease Ontology8 DOID:9246
MeSH35 D028243
SNOMED-CT58 56453003
SNOMED-CT via Orphanet59 45639009
ICD10 via Orphanet26 E85.4+, I68.0*
ICD1025 I68.0

Related Diseases for Cerebral Amyloid Angiopathy

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17GeneCards, 18GeneDecks
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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:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

105150

Clinical features from OMIM:

605714,105150

Symptoms:

49
  • 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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cerebral Amyloid Angiopathy

Search NIH Clinical Center for Cerebral Amyloid Angiopathy

Genetic Tests for Cerebral Amyloid Angiopathy

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Anatomical Context for Cerebral Amyloid Angiopathy

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33MalaCards
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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

33
Brain, Cortex, Smooth muscle, Bone, Endothelial, Pons, Breast, Spinal cord, Liver

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

37
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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52PubMed
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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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy:

64
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, 15Gene 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:
45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience, 29IUPHAR, 3BitterDB
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Compounds related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1thioflavine s4510.1APOE, APP
2metrifonate4510.1APOE, APP
324s-hydroxy-cholesterol4510.1APP, APOE
4leupeptin4510.1CST3, APP
5thioflavin t4510.1APP, APOE
6tacrine45 1111.1APP, APOE
7donepezil45 51 24 1113.1APP, APOE
8captopril45 61 51 29 1114.1APP, CST3
9galantamine45 51 1112.1APOE, APP
106-hydroxydopamine4510.0APP, CST3
11kininogen4510.0APP, CST3
12guanidine45 24 1111.9PRNP, APOE
13ibuprofen45 29 51 24 1113.9APP, APOE
14ganglioside459.8APP, PRNP
154-hydroxynonenal45 2410.8APOE, APP
16betacarotene459.7SERPINA3, APOE
17formate459.7APP, APOE, PRNP
18cyclosporin a45 29 6111.6APOE, APP, CST3
19sodium dodecylsulfate459.6APOE, PRNP, APP
20vitamin b12459.6SERPINA3, CST3, APOE
21glutamine459.6APP, APOE, CST3
22silver459.6SERPINA3, CST3
23methotrexate51 45 1111.6SERPINA3, CST3, APP
24chloroquine45 3 51 29 1113.6APOE, APP
25methionine459.5PRNP, CST3, SERPINA3
26guanidine hydrochloride459.5PRNP, APOE, SERPINA3
27acetylcholine45 51 29 24 1113.5SERPINA3, APP, APOE
28polysaccharide459.5CST3, SERPINA3, PRNP
29dopamine45 29 24 1112.4APOE, APP, SERPINA3
30polyethylene glycol459.4APOE, CST3
31paraffin459.4APOE, SERPINA3, PRNP
32superoxide45 2410.4SERPINA3, PRNP, CST3
33leucine459.3CST3, PRNP, SERPINA3
34aspartate459.3APOE, APP, PRNP, CST3
35folate459.3SERPINA3, CST3, APOE, APP
36vitamin a45 24 1111.3APP, APOE, SERPINA3, CST3
37h2o2459.2PRNP, APP, APOE
38creatinine459.2APOE, APP, SERPINA3, CST3
39iron45 2410.2CST3, PRNP, SERPINA3, APP
40cysteine459.2APOE, APP, SERPINA3, CST3
41valine459.2PRNP, SERPINA3, APOE, APP
42heparin45 29 24 1112.1APOE, PRNP, SERPINA3, APP
43cholesterol45 29 24 1111.8SERPINA3, CST3, PRNP, APP, APOE
44arginine458.8PRNP, SERPINA3, APP, APOE, CST3
45lipid458.8CST3, PRNP, APOE, SERPINA3, APP
46alanine458.0CST3, APP, APOE, PRNP, SERPINA3, IFNAR1
47serine457.5CST3, IFNAR1, HSPB6, APOE, APP, SERPINA3

GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

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16Gene 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
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  • Antibodies

Sources for Cerebral Amyloid Angiopathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet