HCHWA
MCID: CRB019
MIFTS: 64

Cerebral Amyloid Angiopathy (HCHWA) malady

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

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Wikipedia:65 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

MalaCards based summary: Cerebral Amyloid Angiopathy, also known as hereditary cerebral haemorrhage with amyloidosis - dutch type, is related to dementia familial british and hypertension, and has symptoms including cerebral vascular anomalies, transient cerebral ischemia/stroke and intracranial/cerebral/meningeal hemorrhage. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (cystatin C), and among its related pathways are Glypican 1 network and Statin Pathway. 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 muscle and reproductive system.

Descriptions from OMIM:46 605714,105150

Aliases & Classifications for Cerebral Amyloid Angiopathy

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Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 48Orphanet, 34MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 25ICD10
See all sources

Cerebral Amyloid Angiopathy, Aliases & Descriptions:

Name: Cerebral Amyloid Angiopathy 8 9 46 10 44 62
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 8 62
Hereditary Cerebral Hemorrhage with Amyloidosis 48 62
Hchwa 48 62
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 48
 
Dutch Hereditary Cerebral Amyloid Angiopathy 8
Hereditary Cystatin C Amyloid Angiopathy 48
Cerebral Amyloid Angiopathy, Hereditary 62
Hchwa, Icelandic Type 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology8 DOID:9246
MeSH34 D028243
SNOMED-CT57 56453003
ICD10 via Orphanet26 E85.4+, I68.0*
ICD1025 I68.0

Related Diseases for Cerebral Amyloid Angiopathy

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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 87)
idRelated DiseaseScoreTop Affiliating Genes
1dementia familial british30.9ITM2B, APP
2hypertension30.9APOE, MME, CST3
3vascular dementia30.8PRNP, CST3, SERPINA3, APP, APOE
4progressive supranuclear palsy30.8PRNP, APP, APOE
5dementia30.7APOE, LRP1, APP, SERPINA3, PRNP, ITM2B
6atherosclerosis30.5LRP1, PRNP, APOE, CST3
7vascular disease30.5CST3, APOE, LRP1
8creutzfeldt-jakob disease30.5CST3, PRNP, SERPINA3, APOE, APP
9cerebrovascular disease30.4PRNP, SERPINA3, CST3, APOE
10ischemia30.3CST3, MME, HSPB6
11alzheimer's disease29.8LRP1, ITM2B, PRNP, MME, SERPINA3, APOE
12amyloidosis29.2APP, CST3, ITM2B, PRNP, MME, SERPINA3
13cerebritis11.6
14hereditary cerebral amyloid angiopathy10.9
15cerebral hemorrhage10.8
16siderosis10.8
17superficial siderosis10.8
18amyloidosis cerebral10.6
19neuronitis10.6
20polyneuropathy10.6
21primary angiitis of the central nervous system10.6
22cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.6
23kuru10.5PRNP
24granulomatous angiitis10.5
25arteriosclerosis10.5
26vasculitis10.5
27hereditary cerebral hemorrhage with amyloidosis10.5
28endotheliitis10.5
29genetic prion diseases10.5PRNP
30inclusion body myositis10.5APP
31lewy body dementia10.4APOE
32hemosiderosis10.4
33meningitis10.4
34subcortical arteriosclerotic encephalopathy10.4
35cerebral amyloid angiopathy, prnp-related10.4
36gerstmann-straussler-scheinker syndrome10.4APP, PRNP
37stroke, hemorrhagic10.4APP, APOE
38binswanger's disease10.4APP, APOE
39familial creutzfeldt-jakob disease10.3PRNP, APOE
40pancreatitis10.3
41scrapie10.3PRNP, CST3
42pick's disease10.3APOE, APP
43frontotemporal dementia10.3APOE, APP
44finnish type amyloidosis10.3APOE, TTR
45brain injury10.3
46motor neuron disease10.3
47obesity10.3
48traumatic brain injury10.3
49cadasil10.3
50moyamoya disease10.3

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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Symptoms by clinical synopsis from OMIM:

105150

Clinical features from OMIM:

605714,105150

Symptoms:

48
  • cerebral vascular anomalies
  • transient cerebral ischemia/stroke
  • intracranial/cerebral/meningeal hemorrhage
  • autosomal dominant inheritance
  • early death in adulthood

HPO human phenotypes related to Cerebral Amyloid Angiopathy:

(show all 7)
id Description Frequency HPO Source Accession
1 intracranial hemorrhage hallmark (90%) HP:0002170
2 cerebral ischemia hallmark (90%) HP:0002637
3 autosomal dominant inheritance HP:0000006
4 dementia HP:0000726
5 stroke HP:0001297
6 intracranial hemorrhage HP:0002170
7 generalized amyloid deposition HP:0003216

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

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Drug clinical trials:

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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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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

32
Brain, Cortex, Smooth muscle, Bone, Endothelial, Spinal cord, Liver, Breast, Pons

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6LRP1, APOE, APP, PRNP, CST3
2MP:00053898.4IFNAR1, PRNP, APP, APOE, LRP1
3MP:00030128.2TTR, APOE, APP, PRNP, IFNAR1, ITM2B
4MP:00053958.2PRNP, MME, APP, APOE, LRP1
5MP:00036317.9LRP1, APOE, APP, PRNP, ITM2B, CST3
6MP:00053877.5LRP1, APOE, APP, MME, PRNP, IFNAR1
7MP:00053766.9LRP1, TTR, APOE, APP, MME, PRNP

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy. (25320098)
2014
2
Cerebral amyloid angiopathy related hemorrhage after stroke thrombolysis: Case report and literature review. (25377279)
2014
3
Cerebral amyloid angiopathy: amyloid spells and cortical superficial siderosis. (25359331)
2014
4
Cerebral amyloid angiopathy increases susceptibility to infarction after focal cerebral ischemia in Tg2576 mice. (25190447)
2014
5
Corticosteroid therapy in a patient with cerebral amyloid angiopathy-related inflammation. (23497126)
2013
6
Innate immunity receptor CD36 promotes cerebral amyloid angiopathy. (23382216)
2013
7
Recurrent stereotyped episodes in cerebral amyloid angiopathy: response to migraine prophylaxis in two patients. (23741226)
2013
8
Murine cerebrovascular cells as a cell culture model for cerebral amyloid angiopathy: isolation of smooth muscle and endothelial cells from mouse brain. (22528096)
2012
9
Cerebral amyloid angiopathy. (24029086)
2012
10
Predicting sites of new hemorrhage with amyloid imaging in cerebral amyloid angiopathy. (22786597)
2012
11
Cerebral amyloid angiopathy-related inflammation presenting with steroid-responsive higher brain dysfunction: case report and review of the literature. (21914214)
2011
12
Review: sporadic cerebral amyloid angiopathy. (20946241)
2011
13
Cerebral amyloid angiopathy, blood-brain barrier disruption and amyloid accumulation in SAMP8 mice. (21411981)
2011
14
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
15
Superficial siderosis in cerebral amyloid angiopathy. (21654928)
2011
16
Good outcome in a patient treated for cerebral amyloid angiopathy presenting as an expansive process with inflammation and contrast enhancement. (21415149)
2011
17
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
18
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
19
Case 159: cerebral amyloid angiopathy-related inflammation. (20574106)
2010
20
Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (20158508)
2010
21
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
22
Descriptive analysis of the Boston criteria applied to a Dutch-type cerebral amyloid angiopathy population. (19556530)
2009
23
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. (18363936)
2008
24
Cortical petechial hemorrhage, subarachnoid hemorrhage and corticosteroid-responsive leukoencephalopathy in a patient with cerebral amyloid angiopathy. (18266123)
2008
25
Unexpectedly low prevalence of intracerebral hemorrhages in sporadic cerebral amyloid angiopathy: an autopsy study. (18202817)
2008
26
Genetic factors for cerebral amyloid angiopathy]. (19069161)
2008
27
Cerebral amyloid angiopathy with symptomatic or occult subarachnoid haemorrhage. (17179713)
2007
28
Oxidative damage of 14-3-3 zeta and gamma isoforms in Alzheimer's disease and cerebral amyloid angiopathy. (17445990)
2007
29
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
30
Genetic-morphologic association study: association between the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy. (15634227)
2005
31
Clinical manifestations of cerebral amyloid angiopathy-related inflammation. (14755729)
2004
32
Cerebral amyloid angiopathy and dementia. (15876981)
2004
33
Contribution of cerebral amyloid angiopathy to Alzheimer's disease. (14707293)
2004
34
Cerebral amyloid angiopathy presenting as a posterior leukoencephalopathy: a case report and review of the literature. (15626840)
2004
35
Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease. (15090562)
2004
36
Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. (12557012)
2003
37
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
38
Cerebral amyloid angiopathy as a cause of recurrent intracerebral hemorrhage. (11908188)
2002
39
Cerebral amyloid angiopathy presenting as nonhemorrhagic diffuse encephalopathy: neuropathologic and neuroradiologic manifestations in one case. (11415900)
2001
40
First international conference on cerebral amyloid angiopathy, October 5-6, 2000, Boston, MA. (11409036)
2001
41
Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. (10644793)
2000
42
Cerebral amyloid angiopathies]. (11094619)
2000
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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1APPNM_000484.3(APP): c.2077G> C (p.Glu693Gln)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
2APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
3APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167
4APPNM_000484.3(APP): c.2077G> A (p.Glu693Lys)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
5APPNM_000484.3(APP): c.2080G> A (p.Asp694Asn)single nucleotide variantPathogenicrs63749810GRCh37Chr 21, 27264165: 27264165
6CST3NM_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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Expression patterns in normal tissues for genes affiliated with Cerebral Amyloid Angiopathy

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Pathways for genes affiliated with Cerebral Amyloid Angiopathy

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Pathways related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PRNP, APP
2
Show member pathways
9.5APOE, LRP1
3
Show member pathways
9.5APOE, LRP1
49.2LRP1, APOE, APP
59.1CST3, MME, APP
6
Show member pathways
9.0APOE, TTR, LRP1
7
Show member pathways
9.0TTR, APP, ITM2B, CST3
88.4MME, APP, APOE, LRP1
9
Show member pathways
Alzheimers Disease37
8.4LRP1, APOE, APP, MME
108.0LRP1, TTR, APOE, APP, ITM2B, CST3

Compounds for genes affiliated with Cerebral Amyloid Angiopathy

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Compounds related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.2APOE, APP
2metrifonate4410.2APOE, APP
324s-hydroxy-cholesterol4410.1APP, APOE
4tacrine44 1110.9APP, APOE
5ginkgo449.9APP, TTR
6formate449.9PRNP, APP, APOE
7donepezil44 50 24 1112.8APOE, APP
8thioflavin t449.7APP, APOE, TTR
9guanidine44 24 1111.7TTR, APOE, PRNP
10happ449.6APP, MME
11homocysteine44 2410.5CST3, APOE, TTR
12betacarotene449.5TTR, SERPINA3, APOE
13lovastatin44 50 61 28 1113.5LRP1, APOE, APP
14leupeptin449.4CST3, MME, APP
15captopril44 61 50 28 1113.4APP, CST3, MME
164-hydroxynonenal44 2410.3APOE, APP, MME
17glutamine449.2CST3, TTR, APOE, APP
18vitamin b12449.2CST3, TTR, APOE, SERPINA3
19guanidine hydrochloride449.2APOE, TTR, SERPINA3, PRNP
20urea44 24 1111.2TTR, SERPINA3, CST3
21thyroxine44 2410.1TTR, SERPINA3, APOE
22aprotinin44 1110.0CST3, MME, LRP1
23folate449.0TTR, APOE, APP, SERPINA3, CST3
24valine448.9APOE, APP, SERPINA3, PRNP, TTR
25iron44 249.9CST3, PRNP, SERPINA3, APP, TTR
26acetylcholine44 50 28 24 1112.8MME, SERPINA3, APP, APOE
27sodium dodecylsulfate448.8LRP1, TTR, APOE, APP, PRNP
28heparin44 28 24 1111.7LRP1, SERPINA3, APP, APOE, PRNP
29carbohydrates448.7TTR, LRP1, APOE
30cyclosporin a44 28 6110.6APOE, MME, CST3, TTR, APP
31superoxide44 249.6CST3, PRNP, MME, SERPINA3
32threonine448.5SERPINA3, PRNP, CST3, LRP1, TTR
33aspartate448.5CST3, PRNP, APP, LRP1, TTR, APOE
34glutamate448.5MME, APOE, PRNP, APP, TTR
35vegf448.5CST3, MME, APP, APOE, LRP1
36methionine448.4SERPINA3, TTR, PRNP, CST3, MME
37dopamine44 28 24 1111.4APOE, APP, MME, SERPINA3, TTR
38paraffin448.3PRNP, MME, TTR, SERPINA3, APOE
39alanine448.2TTR, APOE, SERPINA3, PRNP, APP, CST3
40vitamin a44 24 1110.2MME, CST3, SERPINA3, APP, APOE, TTR
41creatinine448.1SERPINA3, MME, CST3, APOE, TTR, APP
42cholesterol44 28 24 1111.0APOE, LRP1, TTR, APP, SERPINA3, PRNP
43retinoic acid44 248.9LRP1, MME, SERPINA3, APP, TTR
44glucose447.9TTR, CST3, LRP1, MME, SERPINA3
45dexamethasone44 50 28 1110.8CST3, LRP1, TTR, APP, SERPINA3, MME
46arginine447.8MME, SERPINA3, CST3, TTR, APOE, APP
47leucine447.8PRNP, SERPINA3, TTR, LRP1, MME, CST3
48lipid447.7APOE, LRP1, APP, SERPINA3, MME, PRNP
49cysteine447.5SERPINA3, TTR, APOE, CST3, LRP1, MME
50serine446.4HSPB6, LRP1, APP, SERPINA3, TTR, APOE

GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

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

idNameGO IDScoreTop Affiliating Genes
1coated pitGO:0059059.5LRP1, APP
2Golgi apparatusGO:0057949.2APOE, APP, PRNP, ITM2B
3dendriteGO:0304258.7MME, APOE, LRP1
4extracellular spaceGO:0056158.6CST3, ITM2B, APOE, TTR
5integral component of plasma membraneGO:0058878.3IFNAR1, MME, APP, LRP1
6extracellular regionGO:0055768.3TTR, APOE, APP, SERPINA3, ITM2B, CST3
7extracellular vesicular exosomeGO:0700627.6CST3, APOE, APP, SERPINA3, MME, PRNP
8plasma membraneGO:0058867.3LRP1, APOE, APP, MME, PRNP, IFNAR1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:0068789.7PRNP, APP
2lipoprotein metabolic processGO:0421579.5APOE, LRP1
3negative regulation of endopeptidase activityGO:0109519.4CST3, SERPINA3, APP
4cholesterol metabolic processGO:0082039.3LRP1, APOE, APP
5positive regulation of cholesterol effluxGO:0108759.2APOE, LRP1
6retinoid metabolic processGO:0015239.2APOE, TTR, LRP1
7phototransduction, visible lightGO:0076039.0LRP1, TTR, APOE

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

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:0015409.2APOE, ITM2B, CST3
2identical protein bindingGO:0428029.0PRNP, APP, APOE, TTR
3protein bindingGO:0055155.4CST3, LRP1, HSPB6, TTR, APOE, APP

Products for genes affiliated with Cerebral Amyloid Angiopathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cerebral Amyloid Angiopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet