MCID: CRB019
MIFTS: 59

Cerebral Amyloid Angiopathy malady

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

Summaries for Cerebral Amyloid Angiopathy

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NIH Rare Diseases:41 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, icelandic type, is related to hereditary cerebral amyloid angiopathy and dementia, and has symptoms including behavioral abnormality, migraine 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 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.

Disease Ontology:9 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:45 Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and... (105150) more...

Wikipedia:63 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

Aliases & Classifications for Cerebral Amyloid Angiopathy

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
See all sources

Cerebral Amyloid Angiopathy, Aliases & Descriptions:

Name: Cerebral Amyloid Angiopathy 45 9 10 11 43 60
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 41 47
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 41 47
Hereditary Cerebral Hemorrhage with Amyloidosis 41 47
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 9
Hereditary Cerebral Amyloid Angiopathy, Dutch Type 60
Dutch Hereditary Cerebral Amyloid Angiopathy 9
 
Hereditary Cystatin C Amyloid Angiopathy 47
Cerebral Amyloid Angiopathy, Hereditary 60
Familial Cerebral Amyloid Angiopathy 60
Hchwa, Icelandic Type 47
Hchwa, Dutch Type 47
Hchwa-D 47
Hchwa 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult
hereditary cerebral hemorrhage with amyloidosis, icelandic type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult
hereditary cerebral hemorrhage with amyloidosis, dutch type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult


External Ids:

OMIM45 105150
Disease Ontology9 DOID:9246
MeSH33 D028243
Orphanet47 85458, 100008, 100006
SNOMED-CT55 56453003
ICD10 via Orphanet26 E85.4+, I68.0*
UMLS via Orphanet61 C0268394, C2931672
MESH via Orphanet34 C537944, D028243
ICD1025 I68.0

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 92)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary cerebral amyloid angiopathy32.2APP
2dementia32.0APP, APOE
3dementia, familial british31.1ITM2B, APP
4gerstmann-straussler disease30.9APP, PRNP
5vascular dementia30.7PRNP, CST3, SERPINA3, APP, APOE
6atherosclerosis30.5LRP1, PRNP, APOE, CST3
7vascular disease30.5CST3, APOE, LRP1
8cerebrovascular disease30.4APP, CST3, APOE, SERPINA3
9ischemia30.3CST3, MME, HSPB6
10creutzfeldt-jakob disease30.2CST3, PRNP, SERPINA3, APOE, APP
11alzheimer disease29.4LRP1, ITM2B, PRNP, MME, SERPINA3, APOE
12amyloidosis29.3APP, CST3, ITM2B, PRNP, MME, SERPINA3
13cerebritis11.6
14siderosis10.9
15superficial siderosis10.9
16cerebral hemorrhage10.8
17cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.7
18amyloidosis cerebral10.6
19neuronitis10.6
20polyneuropathy10.6
21primary angiitis of the central nervous system10.6
22hereditary cerebral hemorrhage with amyloidosis, flemish type10.6
23hereditary cerebral hemorrhage with amyloidosis, italian type10.6
24hereditary cerebral hemorrhage with amyloidosis, arctic type10.6
25hereditary cerebral hemorrhage with amyloidosis, iowa type10.6
26hereditary cerebral hemorrhage with amyloidosis, piedmont type10.6
27kuru10.5PRNP
28granulomatous angiitis10.5
29vasculitis10.5
30endotheliitis10.5
31genetic prion diseases10.5PRNP
32inclusion body myositis10.5APP
33dementia, lewy body10.4APOE
34hemosiderosis10.4
35arteriosclerosis10.4
36meningitis10.4
37paresthesia10.4
38subcortical arteriosclerotic encephalopathy10.4
39hemorrhage, intracerebral10.4APP, APOE
40binswanger's disease10.4APP, APOE
41familial creutzfeldt-jakob disease10.3PRNP, APOE
42pancreatitis10.3
43scrapie10.3PRNP, CST3
44pick disease10.3APOE, APP
45dementia, frontotemporal10.3APOE, APP
46amyloidosis, finnish type10.3APOE, TTR
47breast cancer10.3
48obesity10.3
49moyamoya disease10.3
50migraine10.3

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

Symptoms:

 47 (show all 11)
  • cerebral vascular anomalies
  • transient cerebral ischemia/stroke
  • intracranial/cerebral/meningeal hemorrhage
  • autosomal dominant inheritance
  • early death in adulthood
  • facial pain/cephalalgia/migraine
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • intracranial/cerebral calcifications
  • seizures/epilepsy/absences/spasms/status epilepticus
  • early death/lethality

HPO human phenotypes related to Cerebral Amyloid Angiopathy:

(show all 13)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 migraine hallmark (90%) HP:0002076
3 intracranial hemorrhage hallmark (90%) HP:0002170
4 developmental regression hallmark (90%) HP:0002376
5 cerebral ischemia hallmark (90%) HP:0002637
6 seizures typical (50%) HP:0001250
7 cerebral calcification typical (50%) HP:0002514
8 cerebral ischemia typical (50%) HP:0002637
9 autosomal dominant inheritance HP:0000006
10 dementia HP:0000726
11 stroke HP:0001297
12 intracranial hemorrhage HP:0002170
13 generalized amyloid deposition HP:0003216

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

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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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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6CST3, LRP1, APOE, APP, PRNP
2MP:00053898.4PRNP, APP, APOE, LRP1, IFNAR1
3MP:00030128.2ITM2B, IFNAR1, PRNP, APP, APOE, TTR
4MP:00053958.2APOE, APP, MME, PRNP, LRP1
5MP:00036317.9APP, LRP1, APOE, PRNP, ITM2B, CST3
6MP:00053877.5MME, LRP1, APOE, IFNAR1, APP, PRNP
7MP:00053766.9CST3, LRP1, APOE, IFNAR1, PRNP, MME

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 532)
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
Contribution of reactive oxygen species to cerebral amyloid angiopathy, vasomotor dysfunction, and microhemorrhage in aged Tg2576 mice. (25675483)
2015
5
Recurrent cerebral amyloid angiopathy-related hemorrhage. (25675016)
2015
6
Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy. (25320098)
2014
7
Cerebral amyloid angiopathy: amyloid spells and cortical superficial siderosis. (25359331)
2014
8
Cerebral amyloid angiopathy increases susceptibility to infarction after focal cerebral ischemia in Tg2576 mice. (25190447)
2014
9
Corticosteroid therapy in a patient with cerebral amyloid angiopathy-related inflammation. (23497126)
2013
10
Innate immunity receptor CD36 promotes cerebral amyloid angiopathy. (23382216)
2013
11
Murine cerebrovascular cells as a cell culture model for cerebral amyloid angiopathy: isolation of smooth muscle and endothelial cells from mouse brain. (22528096)
2012
12
Cerebral amyloid angiopathy. (24029086)
2012
13
Predicting sites of new hemorrhage with amyloid imaging in cerebral amyloid angiopathy. (22786597)
2012
14
Cerebral amyloid angiopathy-related inflammation presenting with steroid-responsive higher brain dysfunction: case report and review of the literature. (21914214)
2011
15
Review: sporadic cerebral amyloid angiopathy. (20946241)
2011
16
Cerebral amyloid angiopathy, blood-brain barrier disruption and amyloid accumulation in SAMP8 mice. (21411981)
2011
17
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
18
Superficial siderosis in cerebral amyloid angiopathy. (21654928)
2011
19
Good outcome in a patient treated for cerebral amyloid angiopathy presenting as an expansive process with inflammation and contrast enhancement. (21415149)
2011
20
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
21
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
22
Case 159: cerebral amyloid angiopathy-related inflammation. (20574106)
2010
23
Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (20158508)
2010
24
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
25
Descriptive analysis of the Boston criteria applied to a Dutch-type cerebral amyloid angiopathy population. (19556530)
2009
26
Retinal vascular abnormalities in patients with cerebral amyloid angiopathy. (19851067)
2009
27
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. (18363936)
2008
28
Cortical petechial hemorrhage, subarachnoid hemorrhage and corticosteroid-responsive leukoencephalopathy in a patient with cerebral amyloid angiopathy. (18266123)
2008
29
Unexpectedly low prevalence of intracerebral hemorrhages in sporadic cerebral amyloid angiopathy: an autopsy study. (18202817)
2008
30
Cerebral amyloid angiopathy with symptomatic or occult subarachnoid haemorrhage. (17179713)
2007
31
Oxidative damage of 14-3-3 zeta and gamma isoforms in Alzheimer's disease and cerebral amyloid angiopathy. (17445990)
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
First international conference on cerebral amyloid angiopathy, October 5-6, 2000, Boston, MA. (11409036)
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:

62
id Symbol AA change Variation ID SNP ID
1CST3p.Leu94GlnVAR_002207rs28939068

Clinvar genetic disease variations for Cerebral Amyloid Angiopathy:

6
id Gene Variation 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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Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy.

Pathways for genes affiliated with Cerebral Amyloid Angiopathy

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Pathways related to Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8APP, PRNP
2
Show member pathways
9.5APOE, LRP1
3
Show member pathways
9.5LRP1, APOE
49.2APP, APOE, LRP1
59.1APP, MME, CST3
6
Show member pathways
9.0LRP1, TTR, APOE
7
Show member pathways
9.0CST3, ITM2B, APP, TTR
8
Show member pathways
Alzheimers Disease36
8.4MME, APP, APOE, LRP1
98.4LRP1, APOE, APP, MME
108.0APP, TTR, ITM2B, CST3, LRP1, APOE

Compounds for genes affiliated with Cerebral Amyloid Angiopathy

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Compounds related to Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1thioflavine s4310.2APOE, APP
2metrifonate4310.2APOE, APP
324s-hydroxy-cholesterol4310.1APP, APOE
4tacrine43 1210.9APP, APOE
5ginkgo439.9APP, TTR
6formate439.9PRNP, APP, APOE
7donepezil43 49 24 1212.8APOE, APP
8thioflavin t439.7APP, APOE, TTR
9guanidine43 24 1211.7TTR, APOE, PRNP
10happ439.6APP, MME
11homocysteine43 2410.5CST3, APOE, TTR
12betacarotene439.5TTR, SERPINA3, APOE
13lovastatin43 49 59 28 1213.5LRP1, APOE, APP
14leupeptin439.4CST3, MME, APP
15captopril43 59 49 28 1213.4APP, CST3, MME
164-hydroxynonenal43 2410.3APOE, APP, MME
17glutamine439.2CST3, TTR, APOE, APP
18vitamin b12439.2CST3, TTR, APOE, SERPINA3
19guanidine hydrochloride439.2APOE, TTR, SERPINA3, PRNP
20urea43 24 1211.2TTR, SERPINA3, CST3
21thyroxine43 2410.1TTR, SERPINA3, APOE
22aprotinin43 1210.0CST3, MME, LRP1
23folate439.0TTR, APOE, APP, SERPINA3, CST3
24valine438.9APOE, APP, SERPINA3, PRNP, TTR
25iron43 249.9CST3, PRNP, SERPINA3, APP, TTR
26acetylcholine43 49 28 24 1212.8MME, SERPINA3, APP, APOE
27sodium dodecylsulfate438.8LRP1, TTR, APOE, APP, PRNP
28heparin43 28 24 1211.7LRP1, SERPINA3, APP, APOE, PRNP
29carbohydrates438.7TTR, LRP1, APOE
30cyclosporin a43 28 5910.6APOE, MME, CST3, TTR, APP
31superoxide43 249.6CST3, PRNP, MME, SERPINA3
32threonine438.5SERPINA3, PRNP, CST3, LRP1, TTR
33aspartate438.5CST3, PRNP, APP, LRP1, TTR, APOE
34glutamate438.5MME, APOE, PRNP, APP, TTR
35vegf438.5CST3, MME, APP, APOE, LRP1
36methionine438.4SERPINA3, TTR, PRNP, CST3, MME
37dopamine43 28 24 1211.4APOE, APP, MME, SERPINA3, TTR
38paraffin438.3PRNP, MME, TTR, SERPINA3, APOE
39alanine438.2TTR, APOE, SERPINA3, PRNP, APP, CST3
40vitamin a43 24 1210.2MME, CST3, SERPINA3, APP, APOE, TTR
41creatinine438.1SERPINA3, MME, CST3, APOE, TTR, APP
42cholesterol43 28 24 1211.0APOE, LRP1, TTR, APP, SERPINA3, PRNP
43retinoic acid43 248.9LRP1, MME, SERPINA3, APP, TTR
44glucose437.9TTR, CST3, LRP1, MME, SERPINA3
45dexamethasone43 49 28 1210.8CST3, LRP1, TTR, APP, SERPINA3, MME
46arginine437.8MME, SERPINA3, CST3, TTR, APOE, APP
47leucine437.8PRNP, SERPINA3, TTR, LRP1, MME, CST3
48lipid437.7APOE, LRP1, APP, SERPINA3, MME, PRNP
49cysteine437.5SERPINA3, TTR, APOE, CST3, LRP1, MME
50serine436.4HSPB6, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1coated pitGO:00059059.5APP, LRP1
2Golgi apparatusGO:00057949.2ITM2B, PRNP, APP, APOE
3dendriteGO:00304258.7MME, APOE, LRP1
4extracellular spaceGO:00056158.6CST3, APOE, ITM2B, TTR
5integral component of plasma membraneGO:00058878.3LRP1, APP, IFNAR1, MME
6extracellular regionGO:00055768.3CST3, ITM2B, TTR, APOE, APP, SERPINA3
7extracellular vesicular exosomeGO:00700627.6APOE, APP, SERPINA3, MME, PRNP, ITM2B
8plasma membraneGO:00058867.3APP, LRP1, APOE, MME, PRNP, IFNAR1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:00068789.7APP, PRNP
2lipoprotein metabolic processGO:00421579.5APOE, LRP1
3negative regulation of endopeptidase activityGO:00109519.4APP, SERPINA3, CST3
4cholesterol metabolic processGO:00082039.3LRP1, APOE, APP
5positive regulation of cholesterol effluxGO:00108759.2LRP1, APOE
6retinoid metabolic processGO:00015239.2APOE, TTR, LRP1
7phototransduction, visible lightGO:00076039.0TTR, LRP1, APOE

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

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:00015409.2CST3, APOE, ITM2B
2identical protein bindingGO:00428029.0PRNP, APP, APOE, TTR
3protein bindingGO:00055155.4APP, TTR, SERPINA3, MME, PRNP, IFNAR1

Products for genes affiliated with Cerebral Amyloid Angiopathy

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  • Antibodies
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Sources for Cerebral Amyloid Angiopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet