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 49 10 11 45 47 12 67 24 65
Hereditary Cerebral Hemorrhage with Amyloidosis 45 22 51 67
Hchwa 45 22 51 67
Hereditary Cystatin C Amyloid Angiopathy 67 65
Caa 45 67
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 67
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 10
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 65
Cerebral Hemorrhage, Hereditary with Amyloidosis 22
Amyloidosis, Cerebroarterial, Icelandic Type 22
Dutch Hereditary Cerebral Amyloid Angiopathy 10
Cerebroarterial Amyloidosis Icelandic Type 67
Cst3-Related Cerebral Amyloid Angiopathy 22
Cerebral Amyloid Angiopathy Cst3-Related 67
 
Cerebral Amyloid Angiopathy, Hereditary 65
Cerebral Amyloid Angiopathy, Familial 36
Familial Cerebral Amyloid Angiopathy 65
Senile Cerebral Amyloid Angiopathy 45
Cystatin C Amyloidosis 67
Amyloid Angiopathy 65
Amyloidosis Vi 22
Amyloidosis 6 67
Hchwa-I 67
Hchwai 67
Hccaa 67
Amyl6 67
Acys 67

Characteristics:

Orphanet epidemiological data:

51
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

61
cerebral amyloid angiopathy:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 105150
Disease Ontology10 DOID:9246
MeSH36 D028243
Orphanet51 85458
SNOMED-CT59 56453003
ICD10 via Orphanet28 E85.4+, I68.0*
ICD1027 I68.0
UMLS65 C0268394, C0085220, C0268393 C1510489, C2931784, C1527338, C3839957, more

Summaries for Cerebral Amyloid Angiopathy

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NIH Rare Diseases:45 Cerebral amyloid angiopathy (caa) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins).  although caa often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients.  the majority of caa cases occur in individuals who do not have a family history. however, two familial forms of caa have been identified. last updated: 2/5/2009

MalaCards based summary: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, is related to dementia, familial danish and gerstmann-straussler disease, and has symptoms including cerebral ischemia, generalized amyloid deposition and intracranial hemorrhage. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways are Glypican 1 network and Metabolism of fat-soluble vitamins. Affiliated tissues include brain, cortex and salivary gland, and related mouse phenotypes are muscle and integument.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 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.

OMIM:49 Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and... (105150) more...

Wikipedia:68 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
1dementia, familial danish33.5APP, ITM2B
2gerstmann-straussler disease31.9APOE, APP, PRNP
3cerebritis31.7APOE, APP, GSN
4hereditary cerebral amyloid angiopathy12.6
5cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants12.6
6dementia, familial british11.9
7alzheimer disease11.8
8acys amyloidosis11.6
9aural atresia, congenital11.3
10itm2b amyloidosis11.2
11abeta amyloidosis, dutch type11.0
12dementia10.7
13hereditary hypophosphatemic rickets10.7APP, CST3
14cerebral palsy10.6APP, CST3
15siderosis10.6
16superficial siderosis10.6
17birdshot chorioretinopathy10.5APOE, APP
18cerebral hemorrhage10.5
19personality disorder10.5APP, MME
20communicating hydrocephalus10.4APOE, APP
21eccentrochondrodysplasia10.4APP, PSEN1
22neurogenic bowel10.4APOE, PSEN1
23encephalopathy10.4
24retinal arteries, tortuosity of10.4APOE, APP, CST3
25semmekrot haraldsson weemaes syndrome10.3APOE, PSEN1
26amyloidosis10.3
27giant axonal neuropathy10.3APOE, PRNP
28hereditary amyloidosis10.3
29al gazali aziz salem syndrome10.3APP, TTR
30vascular dementia10.3
31primary angiitis of the central nervous system10.3
32supranuclear palsy, progressive atypical10.3APOE, APP
33familial mediterranean fever type 110.3APOE, PRNP
34polyneuropathy10.2
35neuronitis10.2
36prion disease with protracted course10.2APP, PRNP
37retinoblastoma fa - friedreich ataxia10.2APP, ITM2B, PSEN1
38arteriosclerosis10.2
39granulomatous angiitis10.2
40vasculitis10.2
41endotheliitis10.2
42spermatogenic failure 1010.2APOE, APP, PSEN1
43pick disease10.1APOE, APP, PSEN1
44colon kaposi sarcoma10.1APOE, APP, PSEN1
45creutzfeldt-jakob disease10.1
46atherosclerosis10.1
47hemosiderosis10.1
48ischemia10.1
49meningitis10.1
50paresthesia10.1

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

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 generalized amyloid deposition HP:0003216
3 intracranial hemorrhage HP:0002170
4 cerebral hemorrhage HP:0001342
5 stroke HP:0001297
6 dementia HP:0000726

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
3Superficial Siderosis in Patients With Suspected Cerebral Amyloid AngiopathyRecruitingNCT01856699
4Amyloid Imaging and Cognitive Impairment After Intracerebral HemorrhageRecruitingNCT01619709
5Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
6Methods of Etiological Diagnosis of Cerebral Amyloid AngiopathyNot yet recruitingNCT02361411
7Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial HemosiderosisNot yet recruitingNCT02664571
8F-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 Cst3-Related Cerebral Amyloid Angiopathy22 CST3

Anatomical Context for Cerebral Amyloid Angiopathy

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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

33
Brain, Cortex, Salivary gland, Spleen, Breast, Kidney, Prostate

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2APOE, APP, CST3, LRP1, PRNP, PSEN1
2MP:00107717.9APOE, APP, GSN, MME, PRNP, PSEN1
3MP:00053897.6APOE, APP, CST3, GSN, LRP1, PRNP
4MP:00053977.1APOE, APP, GSN, IDE, LRP1, PRNP
5MP:00036316.7APOE, APP, CST3, GSN, IDE, ITM2B
6MP:00053876.4APOE, APP, GSN, IDE, LRP1, MME
7MP:00053765.9APOE, APP, CST3, GSN, IDE, LRP1

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 592)
idTitleAuthorsYear
1
Clinico-Radiological Characteristics and Pathological Diagnosis of Cerebral Amyloid Angiopathy-Related Intracerebral Hemorrhage. (27151414)
2016
2
Intracerebral hemorrhage due to cerebral amyloid angiopathy after head injury: Report of a case and review of the literature. (27145894)
2016
3
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
4
Cortical superficial siderosis, APOE genotype, and hemorrhage risk in cerebral amyloid angiopathy. (25716363)
2015
5
Convexity subarachnoid hemorrhage in cerebral amyloid angiopathy: the saga continues. (25690470)
2015
6
Anti-AI^ Autoantibodies in Amyloid Related Imaging Abnormalities (ARIA): Candidate Biomarker for Immunotherapy in Alzheimer's Disease and Cerebral Amyloid Angiopathy. (26441825)
2015
7
Contribution of reactive oxygen species to cerebral amyloid angiopathy, vasomotor dysfunction, and microhemorrhage in aged Tg2576 mice. (25675483)
2015
8
Cerebral Amyloid Angiopathy with Angiitis: Emerging Options for Treatment. (26267928)
2015
9
Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy. (25320098)
2014
10
Cerebral amyloid angiopathy related hemorrhage after stroke thrombolysis: Case report and literature review. (25377279)
2014
11
Cerebral amyloid angiopathy: amyloid spells and cortical superficial siderosis. (25359331)
2014
12
Cerebral amyloid angiopathy increases susceptibility to infarction after focal cerebral ischemia in Tg2576 mice. (25190447)
2014
13
Corticosteroid therapy in a patient with cerebral amyloid angiopathy-related inflammation. (23497126)
2013
14
Murine cerebrovascular cells as a cell culture model for cerebral amyloid angiopathy: isolation of smooth muscle and endothelial cells from mouse brain. (22528096)
2012
15
Cerebral amyloid angiopathy. (24029086)
2012
16
Predicting sites of new hemorrhage with amyloid imaging in cerebral amyloid angiopathy. (22786597)
2012
17
Cerebral amyloid angiopathy-related inflammation presenting with steroid-responsive higher brain dysfunction: case report and review of the literature. (21914214)
2011
18
Review: sporadic cerebral amyloid angiopathy. (20946241)
2011
19
Cerebral amyloid angiopathy, blood-brain barrier disruption and amyloid accumulation in SAMP8 mice. (21411981)
2011
20
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
21
Superficial siderosis in cerebral amyloid angiopathy. (21654928)
2011
22
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
23
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
24
Case 159: cerebral amyloid angiopathy-related inflammation. (20574106)
2010
25
Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (20158508)
2010
26
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
27
Descriptive analysis of the Boston criteria applied to a Dutch-type cerebral amyloid angiopathy population. (19556530)
2009
28
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. (18363936)
2008
29
Cortical petechial hemorrhage, subarachnoid hemorrhage and corticosteroid-responsive leukoencephalopathy in a patient with cerebral amyloid angiopathy. (18266123)
2008
30
Unexpectedly low prevalence of intracerebral hemorrhages in sporadic cerebral amyloid angiopathy: an autopsy study. (18202817)
2008
31
Cerebral amyloid angiopathy with symptomatic or occult subarachnoid haemorrhage. (17179713)
2007
32
Genetic-morphologic association study: association between the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy. (15634227)
2005
33
Clinical manifestations of cerebral amyloid angiopathy-related inflammation. (14755729)
2004
34
Cerebral amyloid angiopathy and dementia. (15876981)
2004
35
Contribution of cerebral amyloid angiopathy to Alzheimer's disease. (14707293)
2004
36
Cerebral amyloid angiopathy presenting as a posterior leukoencephalopathy: a case report and review of the literature. (15626840)
2004
37
Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. (12557012)
2003
38
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
39
Cerebral amyloid angiopathy as a cause of recurrent intracerebral hemorrhage. (11908188)
2002
40
Cerebral amyloid angiopathy presenting as nonhemorrhagic diffuse encephalopathy: neuropathologic and neuroradiologic manifestations in one case. (11415900)
2001
41
Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. (10644793)
2000
42
Diagnosis of cerebral amyloid angiopathy. Sensitivity and specificity of cortical biopsy. (9227694)
1997
43
Cerebral amyloid angiopathy. Frequency, significance and immunohistochemistry. (7692958)
1993
44
Cerebral amyloid angiopathy: a significant cause of cerebellar as well as lobar cerebral hemorrhage in the elderly. (8336159)
1993
45
Cerebral amyloid angiopathy with granulomatous angiitis ameliorated by steroid-cytoxan treatment. (1394245)
1992
46
Senile plaques in cerebral amyloid angiopathy show accumulation of amyloid precursor protein without cytoskeletal abnormalities. (1280524)
1992
47
Alzheimer's disease, cerebral amyloid angiopathy, and dementia of acute onset. (1911906)
1991
48
Absence of the cystatin C amyloid in the cerebral amyloid angiopathy, senile plaque, and extra-CNS amyloid deposits of aged Japanese. (2782031)
1989
49
50

Variations for Cerebral Amyloid Angiopathy

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy:

67
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:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.9APP, LRP1
2rough endoplasmic reticulumGO:00057919.8APP, PSEN1
3dendriteGO:00304258.7APOE, LRP1, MME, PSEN1
4focal adhesionGO:00059258.5GSN, LRP1, MME

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cholesterol effluxGO:001087510.2APOE, LRP1
2cholesterol metabolic processGO:000820310.2APOE, APP
3amyloid fibril formationGO:19900009.9APP, GSN
4beta-amyloid metabolic processGO:00504359.4IDE, MME, PSEN1
5protein processingGO:00164859.4IDE, PSEN1
6retinoid metabolic processGO:00015239.2APOE, LRP1, TTR
7extracellular matrix organizationGO:00301989.0APP, PSEN1, TTR
8response to oxidative stressGO:00069798.6APOE, APP, PRNP, PSEN1

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.8CST3, LRP1

Sources for Cerebral Amyloid Angiopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet