MCID: CRB019
MIFTS: 56

Cerebral Amyloid Angiopathy malady

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

Aliases & Classifications for Cerebral Amyloid Angiopathy

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 65UMLS, 67UniProtKB/Swiss-Prot, 22GeneTests, 51Orphanet, 36MeSH, 59SNOMED-CT, 28ICD10 via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Cerebral Amyloid Angiopathy:

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


Classifications:



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


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

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 alzheimer disease-4, and has symptoms including cerebral ischemia, autosomal dominant inheritance and dementia. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Presenilin-Mediated Signaling. Affiliated tissues include brain, cortex and spleen, and related mouse phenotypes are no phenotypic analysis 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.

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

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.

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 208)
idRelated DiseaseScoreTop Affiliating Genes
1dementia, familial danish31.3APP, ITM2B
2alzheimer disease-430.8APOE, PSEN1
3gerstmann-straussler disease30.3APOE, CST3, MAPT, PRNP
4peripheral vascular disease30.1APOE, MAPT, PSEN1
5alzheimer disease29.0A2M, APOE, APP, BACE1, CST3, IDE
6cerebritis11.6
7dementia11.0
8hereditary cerebral amyloid angiopathy11.0
9cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.9
10cerebral hemorrhage10.9
11siderosis10.9
12superficial siderosis10.9
13encephalopathy10.8
14amyloidosis10.8
15dementia, familial british10.7
16vascular dementia10.6
17cerebrovascular disease10.6
18greenberg skeletal dysplasia10.6
19artery disease10.6
20cerebral arterial disease10.6
21nutritional deficiency disease10.6
22primary angiitis of the central nervous system10.6
23hemorrhage, intracerebral10.6
24neuronitis10.6
25polyneuropathy10.6
26aural atresia, congenital10.5
27granulomatous angiitis10.5
28arteriosclerosis10.5
29ischemia10.5
30prion disease10.5
31vasculitis10.5
32endotheliitis10.5
33stroke, ischemic10.4
34creutzfeldt-jakob disease10.4
35atherosclerosis10.4
36brain injury10.4
37hemosiderosis10.4
38meningitis10.4
39vascular disease10.4
40paresthesia10.4
41subcortical arteriosclerotic encephalopathy10.4
42schizophrenia10.4
43pancreatitis10.3
44a21g amyloidosis10.3
45abeta amyloidosis, italian type10.3
46abeta amyloidosis, arctic type10.3
47abeta amyloidosis, iowa type10.3
48l34v amyloidosis10.3
49acys amyloidosis10.3
50abeta amyloidosis, dutch type10.3

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:

105150

HPO human phenotypes related to Cerebral Amyloid Angiopathy:

(show all 7)
id Description Frequency HPO Source Accession
1 cerebral ischemia hallmark (90%) HP:0002637
2 autosomal dominant inheritance HP:0000006
3 dementia HP:0000726
4 stroke HP:0001297
5 cerebral hemorrhage HP:0001342
6 intracranial hemorrhage HP:0002170
7 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
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, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4APOE, APP, BACE1, ITM2B, MAPT, PRNP
2MP:00107718.1APOE, APP, BACE1, GSN, MAPT, MME
3MP:00053697.6APOE, APP, BACE1, CST3, HSPB8, LRP1
4MP:00053957.4APOE, APP, BACE1, IDE, LRP1, MAPT
5MP:00053867.2APOE, APP, BACE1, IDE, ITM2B, LRP1
6MP:00053877.0APOE, APP, GSN, HSPB8, IDE, LRP1
7MP:00053766.6APOE, APP, CST3, GSN, HSPB8, IDE
8MP:00036316.6APOE, APP, BACE1, CST3, GSN, IDE

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 564)
idTitleAuthorsYear
1
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
2
Cortical superficial siderosis, APOE genotype, and hemorrhage risk in cerebral amyloid angiopathy. (25716363)
2015
3
Convexity subarachnoid hemorrhage in cerebral amyloid angiopathy: the saga continues. (25690470)
2015
4
Anti-AI^ Autoantibodies in Amyloid Related Imaging Abnormalities (ARIA): Candidate Biomarker for Immunotherapy in Alzheimer's Disease and Cerebral Amyloid Angiopathy. (26441825)
2015
5
Contribution of reactive oxygen species to cerebral amyloid angiopathy, vasomotor dysfunction, and microhemorrhage in aged Tg2576 mice. (25675483)
2015
6
Cerebral Amyloid Angiopathy with Angiitis: Emerging Options for Treatment. (26267928)
2015
7
Murine versus human apolipoprotein E4: differential facilitation of and co-localization in cerebral amyloid angiopathy and amyloid plaques in APP transgenic mouse models. (26556230)
2015
8
Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy. (25320098)
2014
9
Cerebral amyloid angiopathy related hemorrhage after stroke thrombolysis: Case report and literature review. (25377279)
2014
10
Cerebral amyloid angiopathy: amyloid spells and cortical superficial siderosis. (25359331)
2014
11
Cerebral amyloid angiopathy increases susceptibility to infarction after focal cerebral ischemia in Tg2576 mice. (25190447)
2014
12
Corticosteroid therapy in a patient with cerebral amyloid angiopathy-related inflammation. (23497126)
2013
13
Murine cerebrovascular cells as a cell culture model for cerebral amyloid angiopathy: isolation of smooth muscle and endothelial cells from mouse brain. (22528096)
2012
14
Cerebral amyloid angiopathy. (24029086)
2012
15
Predicting sites of new hemorrhage with amyloid imaging in cerebral amyloid angiopathy. (22786597)
2012
16
Cerebral amyloid angiopathy-related inflammation presenting with steroid-responsive higher brain dysfunction: case report and review of the literature. (21914214)
2011
17
Review: sporadic cerebral amyloid angiopathy. (20946241)
2011
18
Cerebral amyloid angiopathy, blood-brain barrier disruption and amyloid accumulation in SAMP8 mice. (21411981)
2011
19
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
20
Superficial siderosis in cerebral amyloid angiopathy. (21654928)
2011
21
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
22
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
23
Case 159: cerebral amyloid angiopathy-related inflammation. (20574106)
2010
24
Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (20158508)
2010
25
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
26
Descriptive analysis of the Boston criteria applied to a Dutch-type cerebral amyloid angiopathy population. (19556530)
2009
27
Retinal vascular abnormalities in patients with cerebral amyloid angiopathy. (19851067)
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
Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease. (15090562)
2004
38
Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. (12557012)
2003
39
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
40
Cerebral amyloid angiopathy as a cause of recurrent intracerebral hemorrhage. (11908188)
2002
41
Cerebral amyloid angiopathy presenting as nonhemorrhagic diffuse encephalopathy: neuropathologic and neuroradiologic manifestations in one case. (11415900)
2001
42
Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. (10644793)
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:

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
1more than 10NC_000021.8: g.14714507_29216662dup14502156duplicationPathogenicNCBI36Chr 21, 13636378: 28138533
2APPNM_000484.3(APP): c.2077G> C (p.Glu693Gln)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
3CST3NM_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 12)
idNameGO IDScoreTop Affiliating Genes
1multivesicular bodyGO:000577110.3BACE1, CST3
2neuronal cell bodyGO:00430259.8APOE, CST3, LRP1, PSEN1
3dendriteGO:00304259.4APOE, LRP1, MAPT, MME, PSEN1
4blood microparticleGO:00725629.3A2M, APOE, GSN, SERPINA3
5axonGO:00304248.7APP, BACE1, CST3, MAPT, MME, PSEN1
6cell surfaceGO:00099868.6APP, BACE1, IDE, PRNP, PSEN1
7Golgi apparatusGO:00057948.6APOE, APP, BACE1, HSPB8, ITM2B, PRNP
8extracellular regionGO:00055767.6A2M, APOE, APP, CST3, GSN, ITM2B
9extracellular spaceGO:00056157.0A2M, APOE, APP, CST3, GSN, IDE
10extracellular exosomeGO:00700626.7A2M, APOE, APP, CST3, GSN, ITM2B
11plasma membraneGO:00058866.7APOE, APP, BACE1, GSN, IDE, ITM2B
12cytoplasmGO:00057376.4APOE, APP, CST3, GSN, HSPB6, HSPB8

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dendritic spine developmentGO:006099910.6APOE, PSEN1
2regulation of epidermal growth factor-activated receptor activityGO:000717610.6APP, PSEN1
3positive regulation of cholesterol effluxGO:001087510.5APOE, LRP1
4cellular copper ion homeostasisGO:000687810.5APP, PRNP
5axon cargo transportGO:000808810.3APP, MAPT
6negative regulation of proteolysisGO:004586110.3CST3, IDE
7membrane protein ectodomain proteolysisGO:000650910.1BACE1, PSEN1
8negative regulation of neuron apoptotic processGO:00435249.9APOE, LRP1, PSEN1
9retinoid metabolic processGO:00015239.9APOE, LRP1, TTR
10phototransduction, visible lightGO:00076039.9APOE, LRP1, TTR
11response to oxidative stressGO:00069799.7APOE, CST3, PRNP, PSEN1
12beta-amyloid metabolic processGO:00504359.3BACE1, IDE, MME, PSEN1
13negative regulation of endopeptidase activityGO:00109519.0A2M, APP, CST3, SERPINA3
14extracellular matrix disassemblyGO:00226178.9A2M, GSN, PSEN1
15extracellular matrix organizationGO:00301988.8A2M, APP, PSEN1, TTR
16cellular protein metabolic processGO:00442678.2APP, BACE1, CST3, GSN, ITM2B, MME

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein particle bindingGO:007181310.3APOE, MAPT
2apolipoprotein bindingGO:003418510.3LRP1, MAPT
3endopeptidase activityGO:00041759.9BACE1, MME, PSEN1
4peptidase activityGO:00082339.8BACE1, MME, PSEN1
5protease bindingGO:00020209.8A2M, CST3, LRP1
6serine-type endopeptidase inhibitor activityGO:00048679.4A2M, APP, SERPINA3
7identical protein bindingGO:00428029.0APOE, APP, CST3, HSPB8, PRNP, TTR
8beta-amyloid bindingGO:00015408.9APOE, BACE1, CST3, IDE, ITM2B
9enzyme bindingGO:00198998.7A2M, APP, BACE1, MAPT
10protein bindingGO:00055154.1A2M, APOE, APP, BACE1, CST3, GSN

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