HCHWA
MCID: CRB019
MIFTS: 60

Cerebral Amyloid Angiopathy (HCHWA) malady

Cardiovascular, Neuronal, Bone categories

Summaries for Cerebral Amyloid Angiopathy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 hemorrhage, intracerebral and hereditary cerebral amyloid angiopathy, and has symptoms including autosomal dominant inheritance, transient cerebral ischemia/stroke and early death in adulthood. 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 liver, spinal cord and brain, and related mouse phenotypes are other and muscle.

Description from OMIM:47 605714,105150

Aliases & Classifications for Cerebral Amyloid Angiopathy

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Neuronal, Bone


Characteristics (Orphanet epidemiological data):

49
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 47 10 45 61
hereditary cerebral hemorrhage with amyloidosis, icelandic type 49
hereditary cerebral haemorrhage with amyloidosis - dutch type 8
hereditary cerebral hemorrhage with amyloidosis 49
dutch hereditary cerebral amyloid angiopathy 8
hereditary cystatin c amyloid angiopathy 49
cerebral amyloid angiopathy, hereditary 61
hchwa, icelandic type 49
hchwa 49


External Ids:

Disease Ontology8 DOID:9246
MeSH35 D028243
SNOMED-CT57 56453003
ICD10 via Orphanet26 E85.4+, I68.0*
ICD1025 I68.0

Related Diseases for Cerebral Amyloid Angiopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1hemorrhage, intracerebral31.4SERPINA3, TTR, PRNP, PSEN1, APOE, APP
2hereditary cerebral amyloid angiopathy31.4APP
3alzheimer's disease31.3APOE, ITM2B, ABCA1, AOC3, PSEN1, SERPINA3
4brain disease30.9MAPT, SERPINA3, PSEN1, APP, PRNP
5vascular disease30.9CST3, APOE, AOC3, PSEN1, PON1, LRP1
6amyloidosis30.9PSEN1, MAPT, MME, LRP1, TTR, SERPINA3
7vascular dementia30.8APOE
8down syndrome30.8PSEN1, APOE, APP, MAPT, IFNAR1, SERPINA3
9arteriosclerosis30.7PON1
10stroke, hemorrhagic30.7APP, APOE
11atherosclerosis30.5PON1, CST3, APOE, AOC3, PRNP, LRP1
12dementia familial british30.3ITM2B, TUBB, APP
13progressive supranuclear palsy30.3APP, APOE, PRNP, MAPT
14binswanger's disease30.3APOE, APP
15cadasil30.3SERPINA3, ABCA1, MAPT, PON1, PRNP, PSEN1
16amyloid tumor30.3TTR, SERPINA3, ABCA1, LRP1, MME, MAPT
17al amyloidosis10.9
18siderosis10.7
19superficial siderosis10.7
20amyloidosis cerebral10.7
21cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.5
22granulomatous angiitis10.5
23vasculitis10.5
24hereditary amyloidosis10.5
25cerebral arteriosclerosis10.5
26mu chain disease10.4
27cerebral atherosclerosis10.4
28hemosiderosis10.4
29autosomal dominant disease10.4
30subcortical arteriosclerotic encephalopathy10.4
31cerebral amyloid angiopathy, prnp-related10.4
32lip disease10.4
33amyloidosis, secondary10.3
34moyamoya disease10.2
35cerebral arteritis10.2
36adult syndrome10.2
37n syndrome10.2
38apo a-i deficiency10.2
39hereditary cerebral hemorrhage with amyloidosis10.2
40rheumatoid vasculitis10.2
41alzheimer disease risk factor10.2
42brain injury10.2
43cerebral hypoxia10.2
44hypoxia10.2
45paresthesia10.2
46traumatic brain injury10.2
47brain ischemia10.2
48senile systemic amyloidosis10.2
49dementia pugilistica10.2
50age related macular degeneration10.0APOE

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



Diseases related to cerebral amyloid angiopathy

Clinical Features for Cerebral Amyloid Angiopathy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

605714,105150

Clinical synopsis from OMIM:

105150

Symptoms:

49 (see all 5)
  • autosomal dominant inheritance
  • transient cerebral ischemia/stroke
  • early death in adulthood
  • cerebral vascular anomalies
  • intracranial/cerebral/meningeal hemorrhage

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Cerebral Amyloid Angiopathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

33
Liver, Spinal cord, Brain, Cortex, Smooth muscle, Breast, T cells, Endothelial, Pons

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cerebral Amyloid Angiopathy

Sources:
51PubMed
See all sources

Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Prevalence and mechanisms of cortical superficial siderosis in cerebral amyloid angiopathy. (23864315)
2013
2
Recurrent craniospinal subarachnoid hemorrhage in cerebral amyloid angiopathy. (23661974)
2013
3
Focal cortical subarachnoid hemorrhage revealed by recurrent paresthesias: a clinico-radiological syndrome strongly associated with cerebral amyloid angiopathy. (24029731)
2013
4
Murine cerebrovascular cells as a cell culture model for cerebral amyloid angiopathy: isolation of smooth muscle and endothelial cells from mouse brain. (22528096)
2012
5
Cerebral amyloid angiopathy. (24029086)
2012
6
Spontaneous upper limb monoplegia secondary to probable cerebral amyloid angiopathy. (22214197)
2012
7
Postoperative outcome of cerebral amyloid angiopathy-related lobar intracerebral hemorrhage: case series and systematic review. (21937942)
2012
8
The pathophysiology and clinical presentation of cerebral amyloid angiopathy. (22565298)
2012
9
Postmortem findings in a patient with cerebral amyloid angiopathy actively treated with corticosteroid. (22295910)
2012
10
Reducing available soluble I^-amyloid prevents progression of cerebral amyloid angiopathy in transgenic mice. (23095848)
2012
11
Superficial siderosis in cerebral amyloid angiopathy. (21654928)
2011
12
Cerebral amyloid angiopathy in streptozotocin rat model of sporadic Alzheimer's disease: a long-term follow up study. (21533606)
2011
13
Aura attacks from acute convexity subarachnoid haemorrhage not due to cerebral amyloid angiopathy. (20855358)
2011
14
Noninvasive magnetic resonance imaging detection of cerebral amyloid angiopathy-related microvascular alterations using superparamagnetic iron oxide particles in APP transgenic mouse models of Alzheimer's disease: application to passive Abeta immunotherapy. (21248127)
2011
15
Cerebral amyloid angiopathy pathology and cognitive domains in older persons. (21387377)
2011
16
Case 159: cerebral amyloid angiopathy-related inflammation. (20574106)
2010
17
A case of cerebral amyloid angiopathy mimicking diffuse axonal injury. (20579579)
2010
18
Population studies of sporadic cerebral amyloid angiopathy and dementia: a systematic review. (19144113)
2009
19
Selective targeting of perivascular macrophages for clearance of beta-amyloid in cerebral amyloid angiopathy. (19164591)
2009
20
Matrix metalloproteinase inhibition reduces oxidative stress associated with cerebral amyloid angiopathy in vivo in transgenic mice. (19457117)
2009
21
Cerebral amyloid angiopathy and its relationship to Alzheimer's disease. (18369648)
2008
22
Sporadic cerebral amyloid angiopathy--an important cause of cerebral haemorrhage in older people. (16982664)
2006
23
Alzheimer's disease pathology influences severity and topographical distribution of cerebral amyloid angiopathy. (16133541)
2005
24
Cerebral amyloid angiopathy in traumatic brain injury: association with apolipoprotein E genotype. (15654038)
2005
25
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
26
Subcortical hematoma caused by cerebral amyloid angiopathy: does the first evidence of hemorrhage occur in the subarachnoid space? (14719539)
2003
27
Negative association between amyloid plaques and cerebral amyloid angiopathy in Alzheimer's disease. (14625042)
2003
28
Cerebral amyloid angiopathy: pathogenesis and effects on the ageing and Alzheimer brain. (14503015)
2003
29
Association between interleukin-1A polymorphism and cerebral amyloid angiopathy-related hemorrhage. (12947160)
2003
30
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
31
Cerebral amyloid angiopathy, white matter lesions and Alzheimer encephalopathy - a histopathological assessment. (12218260)
2002
32
Association between severe cerebral amyloid angiopathy and cerebrovascular lesions in Alzheimer disease is not a spurious one attributable to apolipoprotein E4. (10867785)
2000
33
Plasma beta-amyloid peptide, transforming growth factor-beta 1, and risk for cerebral amyloid angiopathy. (10818500)
2000
34
Increased frequency of the alpha-1-antichymotrypsin T allele in cerebral amyloid angiopathy. (11132933)
2000
35
Cerebral amyloid angiopathy in Alzheimer disease is associated with apolipoprotein E4 and cortical neuron loss. (10192636)
1999
36
Cerebral amyloid angiopathy (CAA) with presentation as a brain inflammatory pseudo-tumour. (10812436)
1999
37
Control of primary angiitis of the CNS associated with cerebral amyloid angiopathy by cyclophosphamide alone. (10025812)
1999
38
Intracerebral haemorrhage and cerebral amyloid angiopathy: CT features with pathological correlation. (10437691)
1999
39
Cerebrovascular accumulation and increased blood-brain barrier permeability to circulating Alzheimer's amyloid beta peptide in aged squirrel monkey with cerebral amyloid angiopathy. (9422364)
1998
40
Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy. (9498059)
1998
41
Cerebral amyloid angiopathy and apolipoprotein E: bad news for the good allele? (9189029)
1997
42
Giant cell arteritis in association with cerebral amyloid angiopathy: immunohistochemical and molecular studies. (9385928)
1997
43
Diagnosis of cerebral amyloid angiopathy: sensitivity and specificity of cortical biopsy. (9341725)
1997
44
Primary angiitis of the central nervous system associated with cerebral amyloid angiopathy: report of two cases and review of the literature. (8559373)
1996
45
Cortical petechial hemorrhage, leukoencephalopathy, and subacute dementia associated with seizures due to cerebral amyloid angiopathy. (7731259)
1995
46
Familial cerebral amyloid angiopathy (British type) with nonneuritic amyloid plaque formation may be due to a novel amyloid protein. (7751849)
1995
47
Ubiquitin in cerebral amyloid angiopathy. (1335037)
1992
48
Granulomatous angiitis and cerebral amyloid angiopathy presenting as a mass lesion. (1713309)
1991
49
Cerebral amyloid angiopathy, recurrent intracerebral hemorrhage, and dementia in the elderly. (2362171)
1990
50
Cerebral amyloid angiopathy and astrocytic gliosis in Alzheimer's disease. (2763806)
1989

Genetic Variations for Cerebral Amyloid Angiopathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cerebral Amyloid Angiopathy:

63
id Symbol AA change Variation SNP ID
1CST3p.Leu94GlnVAR_002207rs28939068

Expression for genes affiliated with Cerebral Amyloid Angiopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 50PharmGKB, 38NCBI BioSystems Database, 53R&D Systems, 4Cell Signaling Technology, 30KEGG
See all sources

Compounds for genes affiliated with Cerebral Amyloid Angiopathy

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1thioflavine s4510.6APP, APOE, MAPT
2vitamin a45 11 2412.6CST3, PON1, MME, SERPINA3
324s-hydroxy-cholesterol4510.6APP, APOE, ABCA1
4thioflavin t4510.5TTR, APOE, APP
5cholesterol ester4510.5ABCA1, LRP1, PON1, APOE
6formate4510.5TUBB, APP, APOE, PRNP, MAPT
7cyclosporin a45 29 6012.4CST3, APP, MME, ABCA1, TTR
8tacrine45 1111.4APP, APOE, MAPT
9guanidine45 11 2412.4TTR, MAPT, PRNP, APOE
10superoxide45 2411.4CST3, PSEN1, PRNP, MME, SERPINA3
11lactacystin4510.4APP, APOE, PSEN1, MAPT, ABCA1
12dopamine45 29 11 2413.4SERPINA3, TTR, MME, AOC3, APP
13homocysteine45 2411.4CST3, APOE, PSEN1, PON1, TTR
144-hydroxynonenal45 2411.4APP, APOE, PSEN1, PON1, MAPT, MME
15donepezil45 11 2412.4APP, APOE, MAPT
16glucose4510.4CST3, PSEN1, MAPT, LRP1, ABCA1, SERPINA3
17heparin45 29 11 2413.3APP, PRNP, PON1, MAPT, SERPINA3
18vitamin b124510.3CST3, APOE, PSEN1, PON1, MAPT, TTR
19serine4510.3SERPINA3, TUBB, IFNAR1, APP, PSEN1, PRNP
20urea45 11 2412.3TUBB, CST3, MAPT, TTR, SERPINA3
21sodium dodecylsulfate4510.3TUBB, APP, APOE, PRNP, MAPT, LRP1
22formaldehyde45 2411.3TUBB, APP, AOC3, PRNP, MAPT
23folate4510.3CST3, APP, APOE, PSEN1, PON1, MAPT
24betacarotene4510.3SERPINA3, TTR, PON1, APOE
25paraffin4510.3TUBB, APOE, PRNP, MAPT, MME, TTR
26acetylcholine45 50 29 11 2414.3APP, APOE, PON1, MAPT, MME, SERPINA3
27valine4510.2TUBB, APP, APOE, PSEN1, PRNP, MAPT
28dexamethasone45 50 29 1113.2APP, MME, ABCA1
29guanidine hydrochloride4510.2APOE, PRNP, TTR, SERPINA3
30aspartate4510.2CST3, APP, APOE, PSEN1, PRNP, MAPT
31glutamine4510.2TUBB, CST3, APP, APOE, PSEN1, PON1
32lysine4510.2TUBB, PSEN1, AOC3, PRNP, MME, LRP1
33testosterone45 60 11 2413.2TUBB, APP, APOE, PON1, MAPT, MME
34leucine4510.1CST3, PSEN1, AOC3, PRNP, PON1, MME
35oxygen45 2411.1HSPB6, PSEN1, AOC3, PRNP, CH25H, MME
36glutamate4510.1TUBB, APP, APOE, PSEN1, PRNP, MAPT
37h2o24510.1TUBB, APP, APOE, PSEN1, AOC3, PRNP
38arginine4510.1CST3, APP, APOE, PSEN1, PRNP, PON1
39creatinine4510.1TUBB, CST3, APP, APOE, AOC3, PON1
40methionine4510.0TUBB, CST3, PSEN1, PRNP, PON1, MAPT
41threonine4510.0TUBB, CST3, PSEN1, AOC3, PRNP, MAPT
42alanine4510.0TUBB, IFNAR1, CST3, APP, APOE, PSEN1
43cysteine4510.0TUBB, CST3, APP, APOE, PSEN1, PON1
44retinoic acid45 2411.0APP, PSEN1, MAPT, MME, LRP1, ABCA1
45aspirin45 50 29 2413.0APP, APOE, PON1, ABCA1, TTR
46hydrogen45 2410.9CST3, PSEN1, AOC3, PRNP, MME, TUBB
47lipid459.9PSEN1, APOE, APP, CST3, TUBB, AOC3
48cholesterol45 29 11 2412.9AOC3, PSEN1, APOE, APP, CST3, PRNP
49calcium45 50 11 2412.8C1R, HSPB6, TUBB, CST3, PSEN1, AOC3
50iron45 2410.7CST3, APP, PRNP, CH25H, TTR, SERPINA3

GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebral Amyloid Angiopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet