HCHWA
MCID: CRB019
MIFTS: 68

Cerebral Amyloid Angiopathy (HCHWA) malady

Cardiovascular diseases, Neuronal diseases, Bone diseases categories

Summaries for Cerebral Amyloid Angiopathy

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

MalaCards: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, icelandic type, is related to alzheimer's disease and dementia, and has symptoms including early death in adulthood, autosomal dominant inheritance and intracranial/cerebral/meningeal hemorrhage. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (cystatin C), and among its related pathways are Visual phototransduction and Reelin Pathway (Cajal-Retzius cells). The compounds thioflavine s and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and smooth muscle, and related mouse phenotypes are other and muscle.

Description from OMIM:46 605714,105150

Aliases & Classifications for Cerebral Amyloid Angiopathy

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

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


Aliases & Descriptions:

cerebral amyloid angiopathy 8 9 46 10 44 60
hereditary cerebral hemorrhage with amyloidosis, icelandic type 48
hereditary cerebral haemorrhage with amyloidosis - dutch type 8
hereditary cerebral hemorrhage with amyloidosis 48
dutch hereditary cerebral amyloid angiopathy 8
hereditary cystatin c amyloid angiopathy 48
cerebral amyloid angiopathy, hereditary 60
hchwa, icelandic type 48
hchwa 48


External Ids:

Disease Ontology8 DOID:9246
MeSH34 D028243
SNOMED-CT56 56453003
SNOMED-CT via Orphanet57 45639009
ICD10 via Orphanet26 E85.4+, I68.0*
ICD1025 I68.0

Related Diseases for Cerebral Amyloid Angiopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Cerebral Amyloid Angiopathy family:

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 134)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer's disease31.6LRP1, MME, MAPT, PON1, CH25H, PRNP
2dementia31.4SERPINA3, LRP1, MAPT, PON1, PRNP, ITM2B
3hereditary cerebral amyloid angiopathy31.1APP
4cerebrovascular disease30.9CST3, APP, APOE, PON1, SERPINA3
5brain disease30.9APP, PSEN1, PRNP, MAPT, SERPINA3
6vascular disease30.9CST3, APOE, PSEN1, AOC3, PON1, LRP1
7amyloidosis30.9TTR, LRP1, MME, MAPT, PRNP, ITM2B
8vascular dementia30.8APOE
9hypertension30.8MME, APOE, CST3
10arteriosclerosis30.6PON1
11polyneuropathy30.6TUBB, TTR
12atherosclerosis30.5CST3, APOE, AOC3, PRNP, PON1, LRP1
13dementia familial british30.3TUBB, APP, ITM2B
14lewy body dementia30.3MAPT, APOE
15progressive supranuclear palsy30.3APP, APOE, PRNP, MAPT
16central nervous system disease30.3APP, MAPT, TTR
17prion disease30.3MAPT, PRNP, PSEN1, APP, CST3
18obesity30.3ABCA1, LRP1, PON1, AOC3, APOE
19ischemia30.3HSPB6, CST3, PSEN1, PON1, MAPT, MME
20motor neuron disease30.3MAPT
21breast cancer30.3TUBB, CST3, PON1, MAPT, MME, LRP1
22cadasil30.3CST3, APOE, PSEN1, AOC3, PRNP, PON1
23amyloid tumor30.3SERPINA3, TTR, ABCA1, LRP1, MME, MAPT
24cerebritis11.6
25siderosis10.7
26neuronitis10.5
27capillary disease10.5
28cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.5
29granulomatous angiitis10.4
30vasculitis10.4
31amyloidosis cerebral10.4
32cerebral atherosclerosis10.4
33hemosiderosis10.4
34autosomal dominant disease10.4
35cerebral degeneration10.4
36meningitis10.4
37cerebral amyloid angiopathy, prnp-related10.4
38pancreatitis10.3
39moyamoya disease10.2
40choroiditis10.2
41cerebral arteritis10.2
42adult syndrome10.2
43central nervous system vasculitis10.2
44cerebellar disease10.2
45cerebral arterial disease10.2
46cerebral palsy10.2
47collagen disease10.2
48hemorrhagic disease10.2
49migraine10.2
50nervous system disease10.2

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy:



Diseases related to cerebral amyloid angiopathy

Clinical Features for Cerebral Amyloid Angiopathy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

605714,105150

Clinical synopsis from OMIM:

105150

Symptoms:

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

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cerebral Amyloid Angiopathy

Drug clinical trials:

Search ClinicalTrials for Cerebral Amyloid Angiopathy

Search NIH Clinical Center for Cerebral Amyloid Angiopathy

Search CenterWatch for Cerebral Amyloid Angiopathy

Genetic Tests for Cerebral Amyloid Angiopathy

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Anatomical Context for Cerebral Amyloid Angiopathy

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32MalaCards
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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

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

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.0ABCA1, APP, APOE, PSEN1, PRNP, MAPT
2MP:00053699.8CST3, APP, APOE, PSEN1, PRNP, MAPT
3MP:00030129.8IFNAR1, APP, APOE, ITM2B, PRNP, MAPT
4MP:00036319.7APP, APOE, PSEN1, ITM2B, PRNP, MAPT
5MP:00053879.6IFNAR1, APP, APOE, PSEN1, AOC3, PRNP
6MP:00053769.5PSEN1, APOE, APP, CST3, IFNAR1, PRNP
7MP:00053859.5IFNAR1, CST3, APOE, PSEN1, PON1, LRP1

Publications for Cerebral Amyloid Angiopathy

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Sources:
50PubMed
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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 507)
idTitleAuthorsYear
1
White matter perivascular spaces: An MRI marker in pathology-proven cerebral amyloid angiopathy? (24285616)
2014
2
Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy. (23489283)
2013
3
Cerebral amyloid angiopathy causing cortical microinfarction. (23871452)
2013
4
Binding of curcumin to senile plaques and cerebral amyloid angiopathy in the aged brain of various animals and to neurofibrillary tangles in Alzheimer's brain. (21891973)
2012
5
Functional magnetic resonance imaging detection of vascular reactivity in cerebral amyloid angiopathy. (22829269)
2012
6
Characteristics of aquaporin expression surrounding senile plaques and cerebral amyloid angiopathy in Alzheimer disease. (22805778)
2012
7
Aura attacks from acute convexity subarachnoid haemorrhage not due to cerebral amyloid angiopathy. (20855358)
2011
8
The impact of cerebral amyloid angiopathy on the occurrence of cerebrovascular lesions in demented patients with Alzheimer features: a neuropathological study. (21244582)
2011
9
The diagnosis challenge of cerebral amyloid angiopathy: case series. (21838491)
2011
10
No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy. (21463452)
2011
11
Sporadic cerebral amyloid angiopathy: An important cause of cerebral hemorrhage in the elderly. (21716867)
2011
12
Cerebral amyloid angiopathy and microhemorrhages after amyloid beta vaccination: case report and brief review. (20569670)
2010
13
Cocaine-induced intracerebral hemorrhage in a patient with cerebral amyloid angiopathy. (20456585)
2010
14
A case of cerebral amyloid angiopathy mimicking diffuse axonal injury. (20579579)
2010
15
Oligomeric Abeta in Alzheimer's disease: relationship to plaque and tangle pathology, APOE genotype and cerebral amyloid angiopathy. (19725829)
2010
16
Cerebral amyloid angiopathy as a cause of an extensive brain hemorrhage in adult patient with Down's syndrome - a case report. (20925005)
2010
17
Superficial siderosis in cerebral amyloid angiopathy. (19850768)
2010
18
Aging and cerebrovascular dysfunction: contribution of hypertension, cerebral amyloid angiopathy, and immunotherapy. (20955427)
2010
19
Selective targeting of perivascular macrophages for clearance of beta-amyloid in cerebral amyloid angiopathy. (19164591)
2009
20
Cortical petechial hemorrhage, subarachnoid hemorrhage and corticosteroid-responsive leukoencephalopathy in a patient with cerebral amyloid angiopathy. (18266123)
2008
21
Human postmortem brain-derived cerebrovascular smooth muscle cells express all genes of the classical complement pathway: a potential mechanism for vascular damage in cerebral amyloid angiopathy and Alzheimer's disease. (18048067)
2008
22
Cerebral amyloid angiopathy: pathogenetic mechanisms and link to dense amyloid plaques. (18184371)
2008
23
Superficial siderosis: a potential diagnostic marker of cerebral amyloid angiopathy in Alzheimer disease. (18635858)
2008
24
Intracerebral hemorrhage caused by cerebral amyloid angiopathy in a 53-year-old man. (18227992)
2008
25
Clinical phenotypes of Cerebral Amyloid Angiopathy. (17341423)
2007
26
Caveolin-1 and -2 and their relationship to cerebral amyloid angiopathy in Alzheimer's disease. (17493012)
2007
27
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. (16369530)
2006
28
Decreased expression and activity of neprilysin in Alzheimer disease are associated with cerebral amyloid angiopathy. (17021406)
2006
29
A Western Australian kindred with Dutch cerebral amyloid angiopathy. (16213528)
2005
30
Association between apolipoprotein E e4 allele and arteriosclerosis, cerebral amyloid angiopathy, and cerebral white matter damage in Alzheimer's disease. (15090562)
2004
31
Pathogenesis of cerebral amyloid angiopathy. (14572915)
2003
32
Relationship between lobar intracerebral hemorrhage and leukoencephalopathy associated with cerebral amyloid angiopathy: clinicopathological study of 64 Japanese patients. (14640026)
2003
33
Association between interleukin-1A polymorphism and cerebral amyloid angiopathy-related hemorrhage. (12947160)
2003
34
Capillary and arterial cerebral amyloid angiopathy in Alzheimer's disease: defining the perivascular route for the elimination of amyloid beta from the human brain. (12662319)
2003
35
Reversible leukoencephalopathy in cerebral amyloid angiopathy presenting as subacute dementia. (12099917)
2002
36
Cerebral amyloid angiopathy in an aged great spotted woodpecker (Picoides major). (10466893)
1999
37
Intracerebral haemorrhage and cerebral amyloid angiopathy: CT features with pathological correlation. (10437691)
1999
38
Diagnosis of cerebral amyloid angiopathy. Sensitivity and specificity of cortical biopsy. (9227694)
1997
39
Characterization of amyloid beta protein species in cerebral amyloid angiopathy of a squirrel monkey by immunocytochemistry and enzyme-linked immunosorbent assay. (9295214)
1997
40
Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases. (9392006)
1997
41
Cerebral amyloid angiopathy and plaques, and visceral amyloidosis in aged macaques. (8744409)
1996
42
Cerebral amyloid angiopathies. (8804023)
1996
43
Cerebral amyloid angiopathy. A review. (8870877)
1996
44
Cerebral amyloid angiopathy in the brains of patients with Alzheimer's disease: the CERAD experience, Part XV. (8649554)
1996
45
A retrospective study of canine senile plaques and cerebral amyloid angiopathy. (8801718)
1996
46
No protective effect of apolipoprotein E epsilon 2 allele in Dutch hereditary cerebral amyloid angiopathy. (7847872)
1995
47
Familial cerebral amyloid angiopathy (British type) with nonneuritic amyloid plaque formation may be due to a novel amyloid protein. (7751849)
1995
48
Diagnosis of cerebral amyloid angiopathy by enzyme-linked immunosorbent assay of cystatin C in cerebrospinal fluid. (1853405)
1991
49
Cerebral amyloid angiopathy, recurrent intracerebral hemorrhage, and dementia in the elderly. (2362171)
1990
50
Immunohistochemical study of cerebral amyloid angiopathy. III. Widespread Alzheimer A4 peptide in cerebral microvessel walls colocalizes with gamma trace in patients with leukoencephalopathy. (2197973)
1990

Genetic Variations for Cerebral Amyloid Angiopathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebral Amyloid Angiopathy:

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

Expression for genes affiliated with Cerebral Amyloid Angiopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebral Amyloid Angiopathy

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy.

Pathways for genes affiliated with Cerebral Amyloid Angiopathy

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Sources:
53Reactome, 51QIAGEN, 49PharmGKB, 37NCBI BioSystems Database, 52R&D Systems, 4Cell Signaling Technology, 29KEGG
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Compounds for genes affiliated with Cerebral Amyloid Angiopathy

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.6MAPT, APOE, APP
2vitamin a44 11 2412.6PON1, SERPINA3, CST3, MME
324s-hydroxy-cholesterol4410.6APP, ABCA1, APOE
4thioflavin t4410.5APOE, APP, TTR
5cholesterol ester4410.5ABCA1, PON1, APOE, LRP1
6formate4410.5APOE, MAPT, APP, TUBB, PRNP
7cyclosporin a44 28 5912.4ABCA1, CST3, APP, MME, TTR
8tacrine44 1111.4MAPT, APP, APOE
9guanidine44 11 2412.4APOE, TTR, MAPT, PRNP
10superoxide44 2411.4PSEN1, PRNP, SERPINA3, CST3, MME
11lactacystin4410.4APOE, ABCA1, MAPT, PSEN1, APP
12dopamine44 28 11 2413.4AOC3, MME, TTR, APP, SERPINA3
13homocysteine44 2411.4PON1, CST3, APOE, TTR, PSEN1
144-hydroxynonenal44 2411.4APOE, PON1, APP, MME, MAPT, PSEN1
15donepezil44 11 2412.4APP, APOE, MAPT
16glucose4410.4SERPINA3, LRP1, ABCA1, MAPT, CST3, PSEN1
17heparin44 28 11 2413.3APP, MAPT, SERPINA3, PRNP, PON1
18vitamin b124410.3SERPINA3, TTR, MAPT, CST3, APOE, PSEN1
19serine4410.3SERPINA3, MAPT, PRNP, PSEN1, APP, IFNAR1
20urea44 11 2412.3MAPT, TTR, TUBB, SERPINA3, CST3
21sodium dodecylsulfate4410.3APP, PRNP, MAPT, LRP1, TTR, TUBB
22formaldehyde44 2411.3AOC3, APP, TUBB, PRNP, MAPT
23folate4410.3PON1, MAPT, PSEN1, TTR, APOE, APP
24betacarotene4410.3PON1, TTR, APOE, SERPINA3
25paraffin4410.3APOE, PRNP, TUBB, SERPINA3, MAPT, TTR
26acetylcholine44 49 28 11 2414.3APOE, PON1, MAPT, APP, MME, SERPINA3
27valine4410.2APOE, TUBB, APP, PSEN1, PRNP, MAPT
28dexamethasone44 49 28 1113.2APP, MME, ABCA1
29guanidine hydrochloride4410.2PRNP, TTR, SERPINA3, APOE
30aspartate4410.2TTR, PSEN1, LRP1, MAPT, CST3, APP
31glutamine4410.2TUBB, APOE, PSEN1, PON1, APP, MAPT
32lysine4410.2ABCA1, AOC3, PSEN1, TUBB, PRNP, LRP1
33testosterone44 59 11 2413.2APOE, PON1, MAPT, TUBB, MME, ABCA1
34leucine4410.1MME, LRP1, TTR, PON1, PRNP, AOC3
35oxygen44 2411.1SERPINA3, ABCA1, CH25H, PRNP, AOC3, PSEN1
36glutamate4410.1TTR, APOE, APP, TUBB, PSEN1, ABCA1
37h2o24410.1APP, AOC3, PSEN1, PON1, TUBB, MME
38arginine4410.1APOE, APP, PSEN1, MAPT, PON1, MME
39creatinine4410.1MAPT, AOC3, APOE, APP, CST3, TUBB
40methionine4410.0CST3, MAPT, MME, ABCA1, TTR, SERPINA3
41threonine4410.0TTR, ABCA1, SERPINA3, PRNP, AOC3, PSEN1
42alanine4410.0PSEN1, PON1, PRNP, TTR, SERPINA3, TUBB
43cysteine4410.0TTR, LRP1, MME, MAPT, PON1, PSEN1
44retinoic acid44 2411.0PSEN1, LRP1, TTR, MME, ABCA1, SERPINA3
45hydrogen44 2410.9TUBB, AOC3, MME, PRNP, CST3, PSEN1
46lipid449.9LRP1, SERPINA3, APOE, ABCA1, TUBB, CST3
47cholesterol44 28 11 2412.9PON1, PRNP, AOC3, PSEN1, CH25H, APP
48iron44 2410.9PRNP, CH25H, APP, CST3, TTR, SERPINA3
49aspirin44 49 28 2412.8PON1, APP, APOE, ABCA1, TTR
50calcium44 49 11 2412.8TUBB, CST3, LRP1, MME, HSPB6, ABCA1

GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

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16Gene Ontology
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Cellular components related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:03042410.2APP, PSEN1, MAPT, MME
2ciliary rootletGO:03525310.0PSEN1, APP
3Golgi apparatusGO:00579410.0APP, APOE, PSEN1, ITM2B, PRNP, ABCA1
4integral to plasma membraneGO:00588710.0APP, PSEN1, MME, LRP1, ABCA1, IFNAR1
5extracellular spaceGO:0056159.9CST3, APOE, ITM2B, PON1, TTR, SERPINA3
6extracellular regionGO:0055769.9C1R, CST3, APP, APOE, ITM2B, PON1
7plasma membraneGO:0058869.6ABCA1, TUBB, IFNAR1, APP, APOE, ITM2B

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulum calcium ion homeostasisGO:05156310.5PSEN1, APP
2regulation of Cdc42 protein signal transductionGO:03248910.5ABCA1, APOE
3high-density lipoprotein particle assemblyGO:03438010.5ABCA1, APOE
4beta-amyloid metabolic processGO:05043510.4MME, PSEN1
5retinoid metabolic processGO:00152310.4APOE, LRP1, TTR
6positive regulation of cholesterol effluxGO:01087510.4APOE, PON1, LRP1, ABCA1
7axon cargo transportGO:00808810.4MAPT, APP
8phospholipid effluxGO:03370010.3ABCA1, APOE
9response to oxidative stressGO:00697910.2PRNP, PSEN1, APP
10cellular copper ion homeostasisGO:00687810.2APP, PRNP
11cholesterol metabolic processGO:00820310.2ABCA1, LRP1, PON1, CH25H, APOE, APP
12phototransduction, visible lightGO:0076039.9TTR, LRP1, APOE

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:01712710.3ABCA1, APOE
2apolipoprotein bindingGO:03418510.2MAPT, LRP1, ABCA1
3beta-amyloid bindingGO:00154010.2ITM2B, APOE, CST3
4lipoprotein particle bindingGO:07181310.0MAPT, APOE
5protein bindingGO:0055159.3SERPINA3, C1R, HSPB6, IFNAR1, CST3, APP

Products for genes affiliated with Cerebral Amyloid Angiopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebral Amyloid Angiopathy

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet