MCID: CRB019
MIFTS: 56

Cerebral Amyloid Angiopathy malady

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

Aliases & Classifications for Cerebral Amyloid Angiopathy

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Aliases & Descriptions for Cerebral Amyloid Angiopathy:

Name: Cerebral Amyloid Angiopathy 50 11 46 13 68 25 12 48 66
Hereditary Cerebral Hemorrhage with Amyloidosis 46 23 52 68
Hchwa 46 23 52 68
Hereditary Cystatin C Amyloid Angiopathy 52 68
Cerebral Amyloid Angiopathy, Familial 46 37
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 52
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 68
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 11
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 66
Cerebral Hemorrhage, Hereditary with Amyloidosis 23
Dutch Hereditary Cerebral Amyloid Angiopathy 11
Amyloidosis, Cerebroarterial, Icelandic Type 23
Cerebroarterial Amyloidosis Icelandic Type 68
Cerebral Amyloid Angiopathy, Cst3-Related 50
Cst3-Related Cerebral Amyloid Angiopathy 23
Cerebral Amyloid Angiopathy Cst3-Related 68
Cerebral Amyloid Angiopathy, Hereditary 66
 
Cerebral Amyloid Angiopathy Familial 48
Familial Cerebral Amyloid Angiopathy 66
Cerebral Amyloid Angiopathy, Genetic 46
Cst3-Related Amyloidosis 52
Cystatin C Amyloidosis 68
Hchwa, Icelandic Type 52
Cystatin Amyloidosis 52
Acys Amyloidosis 52
Amyloidosis Vi 23
Amyloidosis 6 68
Caa, Familial 46
Hchwa-I 68
Hchwai 68
Amyl6 68
Hccaa 68
Acys 68
Caa 68

Characteristics:

Orphanet epidemiological data:

52
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult
hereditary cystatin c amyloid angiopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adult

HPO:

62
cerebral amyloid angiopathy:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 105150
Disease Ontology11 DOID:9246
MeSH37 D028243
SNOMED-CT60 56453003
ICD10 via Orphanet29 E85.4+, I68.0*
ICD1028 I68.0

Summaries for Cerebral Amyloid Angiopathy

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NIH Rare Diseases:46 Hereditary cerebral hemorrhage with amyloidosis (hchwa) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). this process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. symptoms usually present before the 5th decade of life. there are many different ways of classifying the types of hchwa based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. based on the region in which they were first described, the subtypes include:the dutch, arctic, piedmont, iowa, flemish, italian types are caused by mutations in the app gene the british and danish types are caused by mutations in the itm2b gene the icelandic type is caused by mutations in the cst3 gene  all types of hchwa currently described are inherited in an autosomal dominant manner. there is no cure for hchwa, however, antihypertensive therapy is typically recommended. last updated: 7/19/2016

MalaCards based summary: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, is related to hereditary cerebral amyloid angiopathy and cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants, and has symptoms including cerebral ischemia, dementia and stroke. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways are Glypican 1 network and A-beta Pathways: Plaque Formation and APP Metabolism. Affiliated tissues include brain, cortex and spleen, and related mouse phenotypes are muscle and integument.

Disease Ontology:11 An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.

OMIM:50 Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and... (105150) more...

UniProtKB/Swiss-Prot:68 Amyloidosis 6: A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.

Wikipedia:69 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

Related Diseases for Cerebral Amyloid Angiopathy

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Diseases in the Cerebral Amyloid Angiopathy family:

Hereditary Cerebral Amyloid Angiopathy

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary cerebral amyloid angiopathy12.6
2cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants12.6
3dementia, familial british11.9
4dementia, familial danish11.8
5alzheimer disease11.8
6gerstmann-straussler disease11.4
7aural atresia, congenital11.3
8cerebritis11.3
9dementia10.7
10rieger syndrome, type 210.6APP, ITM2B
11siderosis10.6
12superficial siderosis10.6
13adrenocortical insufficiency, without ovarian defect10.6APP, ITM2B
14cervical squamous cell carcinoma10.5APP, CST3
15enteropathy-associated t-cell lymphoma10.5APP, PSEN1
16cerebral hemorrhage10.5
17congenital hypoplastic anemia10.5APOE, PSEN1
18testicular seminoma10.5APOE, PSEN1
19encephalopathy10.4
20retinal arteries, tortuosity of10.3APOE, APP, CST3
21amyloidosis10.3
22hereditary amyloidosis10.3
23vascular dementia10.3
24primary angiitis of the central nervous system10.3
25intravascular angioleiomyoma10.3APOE, APP, PSEN1
26epidermolysis bullosa with pyloric atresia10.3APOE, APP, PSEN1
27pick disease10.2APOE, APP, PSEN1
28vaginal tubular adenoma10.2APOE, APP, PSEN1
29polyneuropathy10.2
30neuronitis10.2
31chronic gonorrhea of cervix10.2APP, MME
32amyoplasia mandibulofacial dysostosis10.2GSN, TTR
33samson viljoen syndrome10.2APOE, LRP1, PSEN1
34plague10.2GSN, TTR
35arteriosclerosis10.2
36granulomatous angiitis10.2
37vasculitis10.2
38endotheliitis10.2
39multifocal choroiditis10.2GSN, TTR
40hyperpituitarism10.1MME, SERPINA3
41alopecia-mental retardation syndrome 310.1GSN, TTR
42glucose transporter type 1 deficiency syndrome10.1APOE, PRNP
43hypotrichosis 610.1GSN, TTR
44creutzfeldt-jakob disease10.1
45atherosclerosis10.1
46hemosiderosis10.1
47ischemia10.1
48meningitis10.1
49paresthesia10.1
50subcortical arteriosclerotic encephalopathy10.1

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:

105150

Symptoms:

 52
  • stroke
  • cerebral hemorrhage
  • amyloidosis
  • cerebral amyloid angiopathy
  • death in early adulthood

HPO human phenotypes related to Cerebral Amyloid Angiopathy:

(show all 6)
id Description Frequency HPO Source Accession
1 cerebral ischemia hallmark (90%) HP:0002637
2 dementia HP:0000726
3 stroke HP:0001297
4 cerebral hemorrhage HP:0001342
5 intracranial hemorrhage HP:0002170
6 generalized amyloid deposition HP:0003216

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study Evaluating the Safety,Tolerability and Efficacy of PF-04360365 in Adults With Probable Cerebral Amyloid AngiopathyCompletedNCT01821118Phase 2
2Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid AngiopathyCompletedNCT00056238Phase 2
3The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage?CompletedNCT02837354
4Amyloid Imaging and Cognitive Impairment After Intracerebral HemorrhageRecruitingNCT01619709
5Superficial Siderosis in Patients With Suspected Cerebral Amyloid AngiopathyActive, not recruitingNCT01856699
6Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
7Methods of Etiological Diagnosis of Cerebral Amyloid AngiopathyNot yet recruitingNCT02361411
8Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial HemosiderosisNot yet recruitingNCT02664571
9F-18-AV-45 Uptake, Spot Sign Presence and Cerebral Amyloid Angiopathy (CAA) in Primary Intracranial Hemorrhage (ICH)WithdrawnNCT01382849

Search NIH Clinical Center for Cerebral Amyloid Angiopathy


Cochrane evidence based reviews: cerebral amyloid angiopathy, familial

Genetic Tests for Cerebral Amyloid Angiopathy

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Genetic tests related to Cerebral Amyloid Angiopathy:

id Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy25
2 Cst3-Related Cerebral Amyloid Angiopathy23 CST3

Anatomical Context for Cerebral Amyloid Angiopathy

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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

34
Brain, Cortex, Spleen, Salivary gland, Smooth muscle, Bone, Endothelial

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4APOE, APP, CST3, LRP1, PRNP, PSEN1
2MP:00107718.2APOE, APP, GSN, MME, PRNP, PSEN1
3MP:00053897.7APOE, APP, CST3, GSN, LRP1, PRNP
4MP:00036316.9APOE, APP, CST3, GSN, ITM2B, LRP1
5MP:00053766.4APOE, APP, CST3, GSN, LRP1, MME

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 611)
idTitleAuthorsYear
1
Clinico-Radiological Characteristics and Pathological Diagnosis of Cerebral Amyloid Angiopathy-Related Intracerebral Hemorrhage. (27151414)
2016
2
The cerebral cortex in cerebral amyloid angiopathy. (27302344)
2016
3
Intracerebral hemorrhage due to cerebral amyloid angiopathy after head injury: Report of a case and review of the literature. (27145894)
2016
4
Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. (27466465)
2016
5
Microbleeds on MRI are associated with microinfarcts on autopsy in cerebral amyloid angiopathy. (27613583)
2016
6
Prodromal Alzheimer's disease presenting as cerebral amyloid angiopathy-related inflammation with spontaneous amyloid-related imaging abnormalities and high cerebrospinal fluid anti-aI^ autoantibodies. (25537009)
2015
7
Cortical superficial siderosis, APOE genotype, and hemorrhage risk in cerebral amyloid angiopathy. (25716363)
2015
8
Anti-AI^ Autoantibodies in Amyloid Related Imaging Abnormalities (ARIA): Candidate Biomarker for Immunotherapy in Alzheimer's Disease and Cerebral Amyloid Angiopathy. (26441825)
2015
9
Contribution of reactive oxygen species to cerebral amyloid angiopathy, vasomotor dysfunction, and microhemorrhage in aged Tg2576 mice. (25675483)
2015
10
Recurrent cerebral amyloid angiopathy-related hemorrhage. (25675016)
2015
11
Platelets in the Alzheimer's Disease Brain: do they Play a Role in Cerebral Amyloid Angiopathy? (25557380)
2015
12
Cerebral Amyloid Angiopathy Presenting with Synchronous Bilateral Intracerebral Macrohemorrhages. (26955333)
2015
13
Cerebral amyloid angiopathy causing large contralateral hemorrhage during surgery for lobar hemorrhage: a case report. (25601180)
2015
14
Cerebral amyloid angiopathy increases susceptibility to infarction after focal cerebral ischemia in Tg2576 mice. (25190447)
2014
15
A case report of cerebral amyloid angiopathy-related inflammation treated with cyclophosphamide. (24429648)
2014
16
High Levels of Homocysteine Results in Cerebral Amyloid Angiopathy in Mice. (25061050)
2014
17
ATP-binding cassette transporters P-glycoprotein and breast cancer related protein are reduced in capillary cerebral amyloid angiopathy. (24138987)
2014
18
Corticosteroid therapy in a patient with cerebral amyloid angiopathy-related inflammation. (23497126)
2013
19
Innate immunity receptor CD36 promotes cerebral amyloid angiopathy. (23382216)
2013
20
Cerebral amyloid angiopathy. (24029086)
2012
21
LRP1 expression in cerebral cortex, choroid plexus and meningeal blood vessels: relationship to cerebral amyloid angiopathy and APOE status. (22967844)
2012
22
Cerebral amyloid angiopathy manifested as a brain tumour. Clinical and neuropathological characteristics of two cases. (22773466)
2012
23
Review: sporadic cerebral amyloid angiopathy. (20946241)
2011
24
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
25
Cerebral amyloid angiopathy in streptozotocin rat model of sporadic Alzheimer's disease: a long-term follow up study. (21533606)
2011
26
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
27
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
28
Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (20158508)
2010
29
Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy. (20975060)
2010
30
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
31
Spontaneous intracerebral hemorrhage secondary to cerebral amyloid angiopathy. (19895438)
2009
32
Cortical petechial hemorrhage, subarachnoid hemorrhage and corticosteroid-responsive leukoencephalopathy in a patient with cerebral amyloid angiopathy. (18266123)
2008
33
Unexpectedly low prevalence of intracerebral hemorrhages in sporadic cerebral amyloid angiopathy: an autopsy study. (18202817)
2008
34
Genetic factors for cerebral amyloid angiopathy]. (19069161)
2008
35
Oxidative damage of 14-3-3 zeta and gamma isoforms in Alzheimer's disease and cerebral amyloid angiopathy. (17445990)
2007
36
Genetic-morphologic association study: association between the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy. (15634227)
2005
37
Abeta-related angiitis: primary angiitis of the central nervous system associated with cerebral amyloid angiopathy. (15659428)
2005
38
Cerebral amyloid angiopathy presenting as a posterior leukoencephalopathy: a case report and review of the literature. (15626840)
2004
39
Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease. (15090562)
2004
40
First international conference on cerebral amyloid angiopathy, October 5-6, 2000, Boston, MA. (11409036)
2001
41
Outcome markers for clinical trials in cerebral amyloid angiopathy. (11676292)
2001
42
Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. (10644793)
2000
43
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. (9748011)
1998
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
Primary angiitis of the central nervous system associated with cerebral amyloid angiopathy: report of two cases and review of the literature. (8559373)
1996
46
Cerebral amyloid angiopathy. Frequency, significance and immunohistochemistry. (7692958)
1993
47
Senile plaques in cerebral amyloid angiopathy show accumulation of amyloid precursor protein without cytoskeletal abnormalities. (1280524)
1992
48
Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy. (1335860)
1992
49
Intracerebral hemorrhage related to cerebral amyloid angiopathy and t-PA treatment. (1901466)
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:

68
id Symbol AA change Variation ID SNP ID
1CST3p.Leu94GlnVAR_002207rs28939068

Clinvar genetic disease variations for Cerebral Amyloid Angiopathy:

5
id Gene Variation 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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Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy.

Pathways for genes affiliated with Cerebral Amyloid Angiopathy

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GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:003525310.5APP, PSEN1
2smooth endoplasmic reticulumGO:000579010.4APP, PSEN1
3dendritic shaftGO:004319810.3APP, PSEN1
4membrane raftGO:00451219.9APP, PRNP, PSEN1
5axonGO:00304249.3APP, CST3, MME, PSEN1
6blood microparticleGO:00725629.3APOE, GSN, SERPINA3
7dendriteGO:00304259.1APOE, LRP1, MME, PSEN1
8neuronal cell bodyGO:00430259.0APOE, CST3, LRP1, PSEN1
9Golgi apparatusGO:00057948.9APOE, APP, ITM2B, PRNP, PSEN1
10extracellular regionGO:00055767.7APOE, APP, CST3, GSN, ITM2B, SERPINA3
11extracellular spaceGO:00056157.7APOE, APP, CST3, GSN, ITM2B, SERPINA3
12plasma membraneGO:00058866.9APOE, APP, GSN, ITM2B, LRP1, MME
13extracellular exosomeGO:00700626.7APOE, APP, CST3, GSN, ITM2B, MME
14cytoplasmGO:00057376.4APOE, APP, CST3, GSN, HSPB6, LRP1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulum calcium ion homeostasisGO:005156310.4APP, PSEN1
2regulation of epidermal growth factor-activated receptor activityGO:000717610.4APP, PSEN1
3regulation of protein bindingGO:004339310.3APP, PSEN1
4cellular copper ion homeostasisGO:000687810.3APP, PRNP
5positive regulation of cholesterol effluxGO:001087510.2APOE, LRP1
6positive regulation of dendritic spine developmentGO:006099910.2APOE, PSEN1
7beta-amyloid metabolic processGO:005043510.2MME, PSEN1
8lipoprotein metabolic processGO:00421579.9APOE, LRP1
9neuron apoptotic processGO:00514029.9APP, PSEN1
10amyloid fibril formationGO:19900009.8APP, GSN
11negative regulation of endopeptidase activityGO:00109519.7APP, CST3, SERPINA3
12learning or memoryGO:00076119.7PRNP, PSEN1
13retinoid metabolic processGO:00015239.2APOE, LRP1, TTR
14response to oxidative stressGO:00069799.0APOE, APP, CST3, PRNP, PSEN1
15negative regulation of neuron apoptotic processGO:00435249.0APOE, LRP1, PSEN1
16cellular protein metabolic processGO:00442677.9APP, CST3, GSN, ITM2B, PSEN1, TTR

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

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:000154010.1APOE, CST3, ITM2B
2identical protein bindingGO:00428028.5APOE, APP, CST3, PRNP, TTR
3protein bindingGO:00055155.2APOE, APP, CST3, GSN, HSPB6, ITM2B

Sources for Cerebral Amyloid Angiopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet