MCID: CRB019
MIFTS: 58

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 52 11 48 70 27 12 50 13 68
Hereditary Cerebral Hemorrhage with Amyloidosis 48 24 54 70
Hchwa 48 24 54 70
Hereditary Cystatin C Amyloid Angiopathy 54 70 68
Cerebral Amyloid Angiopathy, Familial 48 39
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 54
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 70
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 11
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 68
Cerebral Hemorrhage, Hereditary with Amyloidosis 24
Dutch Hereditary Cerebral Amyloid Angiopathy 11
Amyloidosis, Cerebroarterial, Icelandic Type 24
Cerebroarterial Amyloidosis Icelandic Type 70
Cerebral Amyloid Angiopathy, Cst3-Related 52
Cerebral Amyloid Angiopathy Cst3-Related 70
Cst3-Related Cerebral Amyloid Angiopathy 24
Cerebral Amyloid Angiopathy, Hereditary 68
 
Cerebral Amyloid Angiopathy, Genetic 48
Familial Cerebral Amyloid Angiopathy 68
Cst3-Related Amyloidosis 54
Cystatin C Amyloidosis 70
Hchwa, Icelandic Type 54
Cystatin Amyloidosis 54
Acys Amyloidosis 54
Amyloidosis Vi 24
Caa, Familial 48
Amyloidosis 6 70
Hchwa-I 70
Hchwai 70
Amyl6 70
Hccaa 70
Acys 70
Caa 70

Characteristics:

Orphanet epidemiological data:

54
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult
hereditary cystatin c amyloid angiopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adult

HPO:

64
cerebral amyloid angiopathy:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 105150
Disease Ontology11 DOID:9246
MeSH39 D028243
SNOMED-CT62 56453003
ICD10 via Orphanet31 E85.4+, I68.0*
ICD1030 I68.0

Summaries for Cerebral Amyloid Angiopathy

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NIH Rare Diseases:48 Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th decade of life. There are many different ways of classifying the types of HCHWA based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. Based on the region in which they were first described, the subtypes include:The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by mutations in the APP gene The British and Danish types are caused by mutations in the ITM2B gene The Icelandic type is caused by mutations in the CST3 gene  All types of HCHWA currently described are inherited in an autosomal dominant manner. There is no cure for HCHWA, however, antihypertensive therapy is typically recommended. Last updated: 7/19/2016

MalaCards based summary: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, is related to cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants and hereditary cerebral amyloid angiopathy, and has symptoms including cerebral ischemia, dementia and stroke. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways are Glypican 1 network and Presenilin-Mediated Signaling. Affiliated tissues include brain, cortex and spleen, and related mouse phenotypes are no phenotypic analysis and muscle.

Disease Ontology:11 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:52 Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and... (105150) more...

UniProtKB/Swiss-Prot:70 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:71 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 90)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants12.6
2hereditary cerebral amyloid angiopathy12.6
3dementia, familial british12.0
4dementia, familial danish12.0
5alzheimer disease11.9
6aural atresia, congenital11.7
7cerebritis11.2
8gerstmann-straussler disease11.1
9dementia10.6
10rieger syndrome, type 210.5APP, ITM2B
11enteropathy-associated t-cell lymphoma10.5APP, PSEN1
12cervical squamous cell carcinoma10.5APP, CST3
13adrenocortical insufficiency, without ovarian defect10.5APP, ITM2B
14congenital hypoplastic anemia10.4APOE, PSEN1
15siderosis10.4
16superficial siderosis10.4
17testicular seminoma10.4APOE, PSEN1
18cerebral hemorrhage10.4
19glucose transporter type 1 deficiency syndrome10.3APOE, PRNP
20retinal arteries, tortuosity of10.3APOE, APP, CST3
21intravascular angioleiomyoma10.3APOE, APP, PSEN1
22epidermolysis bullosa with pyloric atresia10.3APOE, APP, PSEN1
23encephalopathy10.3
24pick disease10.2APOE, APP, PSEN1
25hyperpituitarism10.2MME, SERPINA3
26amyloidosis10.2
27huntington disease-like 110.2APP, PRNP
28amyoplasia mandibulofacial dysostosis10.2GSN, TTR
29vascular dementia10.2
30primary angiitis of the central nervous system10.2
31plague10.1GSN, TTR
32samson viljoen syndrome10.1APOE, LRP1, PSEN1
33multifocal choroiditis10.1GSN, TTR
34polyneuropathy10.1
35neuronitis10.1
36connective tissue benign neoplasm10.1MME, SERPINA3
37basophil adenoma10.1PRNP, PSEN1
38alopecia-mental retardation syndrome 310.1GSN, TTR
39prion disease with protracted course10.1APOE, CST3, PRNP
40papillary adenoma10.1MME, SERPINA3
41hypotrichosis 610.0GSN, TTR
42brain injury10.0
43traumatic brain injury10.0
44arteriosclerosis10.0
45granulomatous angiitis10.0
46vasculitis10.0
47endotheliitis10.0
48nosophobia10.0APOE, PRNP, PSEN1
49lethal congenital contracture syndrome 110.0APOE, GSN, TTR
50acrofrontofacionasal dysostosis10.0PRNP, PSEN1

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



Diseases related to cerebral amyloid angiopathy

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy

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Symptoms by clinical synopsis from OMIM:

105150

Clinical features from OMIM:

105150

Human phenotypes related to Cerebral Amyloid Angiopathy:

 64 54 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral ischemia64 hallmark (90%) HP:0002637
2 dementia64 HP:0000726
3 stroke64 54 Very frequent (99-80%) HP:0001297
4 cerebral hemorrhage64 54 Very frequent (99-80%) HP:0001342
5 intracranial hemorrhage64 HP:0002170
6 generalized amyloid deposition64 HP:0003216
7 amyloidosis54 Frequent (79-30%)
8 cerebral amyloid angiopathy54 Very frequent (99-80%)
9 death in early adulthood54 Occasional (29-5%)

MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9APOE, APP, BACE1, ITM2B, PRNP, TTR
2MP:00053698.8APOE, APP, BACE1, CST3, LRP1, PRNP
3MP:00107718.5APOE, APP, BACE1, GSN, MME, PRNP
4MP:00053897.9APOE, APP, CST3, GSN, LRP1, PRNP
5MP:00036317.8APOE, APP, BACE1, CST3, GSN, ITM2B
6MP:00053767.2APOE, APP, BACE1, CST3, GSN, LRP1

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
3The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage?CompletedNCT02837354
4Amyloid Imaging and Cognitive Impairment After Intracerebral HemorrhageRecruitingNCT01619709
5Superficial Siderosis in Patients With Suspected Cerebral Amyloid AngiopathyActive, not recruitingNCT01856699
6Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
7Methods of Etiological Diagnosis of Cerebral Amyloid AngiopathyNot yet recruitingNCT02361411
8Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial HemosiderosisNot yet recruitingNCT02664571
9F-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 Cerebral Amyloid Angiopathy27
2 Cst3-Related Cerebral Amyloid Angiopathy24 CST3

Anatomical Context for Cerebral Amyloid Angiopathy

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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

36
Brain, Cortex, Spleen, Salivary gland, Smooth muscle, Bone, Endothelial

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 626)
idTitleAuthorsYear
1
I^-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy. (27903811)
2017
2
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and aA Literature Review. (27858710)
2017
3
Cerebral amyloid angiopathy in a young man with a history of traumatic brain injury: a case report and review of the literature. (27812816)
2017
4
Cerebrovascular function in presymptomatic and symptomatic individuals with hereditary cerebral amyloid angiopathy: a case-control study. (27989553)
2017
5
Cerebral amyloid angiopathy: a long-term consequence of traumatic brain injury? (27796651)
2017
6
Cerebral Amyloid Angiopathy-Related Microbleeds and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease. (27802236)
2017
7
Imaging the Acute Formation of a Cortical Microbleed in Cerebral Amyloid Angiopathy. (27893876)
2017
8
Histological and immunohistochemical characteristics of cerebral amyloid angiopathy in elderly dogs. (27669976)
2017
9
Clinico-Radiological Characteristics and Pathological Diagnosis of Cerebral Amyloid Angiopathy-Related Intracerebral Hemorrhage. (27151414)
2016
10
The cerebral cortex in cerebral amyloid angiopathy. (27302344)
2016
11
Intracerebral hemorrhage due to cerebral amyloid angiopathy after head injury: Report of a case and review of the literature. (27145894)
2016
12
Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. (27466465)
2016
13
Microbleeds on MRI are associated with microinfarcts on autopsy in cerebral amyloid angiopathy. (27613583)
2016
14
PiB-PET detects transthyretin-related cerebral amyloid angiopathy. (27466476)
2016
15
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. (27000221)
2016
16
Imaging Findings of Cerebral Amyloid Angiopathy, AI^-Related Angiitis (ABRA), and Cerebral Amyloid Angiopathy-Related Inflammation: A Single-Institution 25-Year Experience. (27196463)
2016
17
(68)Ga-Bivalent Polypegylated Styrylpyridine Conjugates for Imaging AI^ Plaques in Cerebral Amyloid Angiopathy. (27045547)
2016
18
Neuropsychological Effects of Cerebral Amyloid Angiopathy. (27357378)
2016
19
Vicinity of FLAIR Hyperintensities and SWI Microbleeds in Cerebral Amyloid Angiopathy-Related Inflammation. (27115699)
2016
20
Influence of Low-dose Aspirin on Cerebral Amyloid Angiopathy in Mice. (27079719)
2016
21
Impact of sex and APOE4 on cerebral amyloid angiopathy in Alzheimer's disease. (27179972)
2016
22
Cortical Superficial Siderosis in Memory Clinic Patients: Further Evidence for Underlying Cerebral Amyloid Angiopathy. (26751369)
2016
23
Early Magnetic Resonance Imaging and Cognitive Markers of Hereditary Cerebral Amyloid Angiopathy. (27834748)
2016
24
Imaging of Cerebral Amyloid Angiopathy with Bivalent (99m)Tc-Hydroxamamide Complexes. (27181612)
2016
25
Cognitive Profile and its Association with Neuroimaging Markers of Non-Demented Cerebral Amyloid Angiopathy Patients in a Stroke Unit. (27060947)
2016
26
Rebleeding in cerebral amyloid angiopathy: Inside out or outside in? (27694259)
2016
27
Cerebral Amyloid Angiopathy Is Associated With Executive Dysfunction and Mild Cognitive Impairment. (27338926)
2016
28
Total Magnetic Resonance Imaging Burden of Small Vessel Disease in Cerebral Amyloid Angiopathy: An Imaging-Pathologic Study of Concept Validation. (27366898)
2016
29
Florbetapir-PET to diagnose cerebral amyloid angiopathy: A prospective study. (27605173)
2016
30
Comparison of cerebrospinal fluid profiles in Alzheimer's disease with multiple cerebral microbleeds and cerebral amyloid angiopathy-related inflammation. (28000005)
2016
31
Progression of Brain Network Alterations in Cerebral Amyloid Angiopathy. (27576378)
2016
32
Sporadic Cerebral Amyloid Angiopathy: Pathophysiology, Neuroimaging Features, and Clinical Implications. (27214698)
2016
33
Evolution of Subarachnoid Hemorrhage Extension in Lobar Hemorrhage in the Early Chronic Phase and the Impact on Cerebral Amyloid Angiopathy Criteria. (27542696)
2016
34
Lack of P-glycoprotein Results in Impairment of Removal of Beta-Amyloid and Increased Intraparenchymal Cerebral Amyloid Angiopathy after Active Immunization in a Transgenic Mouse Model of Alzheimer's Disease. (27915995)
2016
35
High-Fat-Diet Intake Enhances Cerebral Amyloid Angiopathy and Cognitive Impairment in a Mouse Model of Alzheimer's Disease, Independently of Metabolic Disorders. (27412896)
2016
36
Clinical features of high-degree centrum semiovale-perivascular spaces in cerebral amyloid angiopathy. (27423569)
2016
37
Rapidly Sequential and Fatal Hemorrhaging in a Case of Cerebral Amyloid Angiopathy. (27853131)
2016
38
Managing Risk After Intracerebral Hemorrhage in Concomitant Atrial Fibrillation and Cerebral Amyloid Angiopathy. (27272484)
2016
39
Novel Bivalent 99mTc-Complex with N-Methyl-Substituted Hydroxamamide as Probe for Imaging of Cerebral Amyloid Angiopathy. (27689870)
2016
40
Significant cognitive improvement with cholinesterase inhibition in AD with cerebral amyloid angiopathy. (26989943)
2016
41
Cortical Superficial Siderosis Presumed due to Cerebral Amyloid Angiopathy: Minimum Standards for Rating and Reporting. (26915571)
2016
42
Longitudinal decrease in blood oxygenation level dependent response in cerebral amyloid angiopathy. (27104140)
2016
43
Reduced nitric oxide bioavailability mediates cerebroarterial dysfunction independent of cerebral amyloid angiopathy in a mouse model of Alzheimer's disease. (27836896)
2016
44
Systems proteomic analysis reveals that Clusterin and Tissue Inhibitor of Metalloproteinases 3 increase in leptomeningeal arteries affected by cerebral amyloid angiopathy. (27543695)
2016
45
Altered Sphingolipid Balance in Capillary Cerebral Amyloid Angiopathy. (27662305)
2016
46
Cortical atrophy in patients with cerebral amyloid angiopathy: a case-control study. (27180034)
2016
47
Intracerebral haemorrhage recurrence in cerebral amyloid angiopathy: Time to look beyond microbleeds? (27423589)
2016
48
Cerebral Amyloid Angiopathy-related Microbleeds: Radiology versus Pathology. (27150887)
2016
49
Status epilepticus caused by cerebral amyloid angiopathy-related inflammation. (27408804)
2016
50
Cerebral Amyloid Angiopathy as an Etiology for Cortical Superficial Siderosis: An Unproven Hypothesis. (26721767)
2016

Variations for Cerebral Amyloid Angiopathy

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

70
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)SNVPathogenicrs28939068GRCh37Chr 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 16)
idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:003525310.7APP, PSEN1
2dendritic shaftGO:004319810.7APP, PSEN1
3multivesicular bodyGO:000577110.5BACE1, CST3
4cytoplasmic vesicleGO:003141010.2APP, BACE1, PSEN1
5neuronal cell bodyGO:00430259.9APOE, CST3, LRP1, PSEN1
6smooth endoplasmic reticulumGO:00057909.9APP, PSEN1
7dendriteGO:00304259.8APOE, LRP1, MME, PSEN1
8membrane raftGO:00451219.8APP, BACE1, PRNP, PSEN1
9blood microparticleGO:00725629.6APOE, GSN, SERPINA3
10axonGO:00304249.6APP, BACE1, CST3, MME, PSEN1
11Golgi apparatusGO:00057949.2APOE, APP, BACE1, ITM2B, PRNP, PSEN1
12membraneGO:00160208.8APOE, APP, BACE1, ITM2B, MME, PRNP
13extracellular regionGO:00055768.2APOE, APP, CST3, GSN, ITM2B, SERPINA3
14extracellular spaceGO:00056158.2APOE, APP, CST3, GSN, ITM2B, SERPINA3
15extracellular exosomeGO:00700627.5APOE, APP, CST3, GSN, ITM2B, MME
16plasma membraneGO:00058867.3APOE, APP, BACE1, GSN, ITM2B, LRP1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:000687810.5APP, PRNP
2neuron apoptotic processGO:005140210.5APP, PSEN1
3regulation of epidermal growth factor-activated receptor activityGO:000717610.5APP, PSEN1
4regulation of protein bindingGO:004339310.5APP, PSEN1
5positive regulation of dendritic spine developmentGO:006099910.4APOE, PSEN1
6positive regulation of cholesterol effluxGO:001087510.3APOE, LRP1
7membrane protein ectodomain proteolysisGO:000650910.3BACE1, PSEN1
8amyloid fibril formationGO:199000010.3APP, GSN
9negative regulation of neuron apoptotic processGO:004352410.0APOE, LRP1, PSEN1
10beta-amyloid metabolic processGO:00504359.9BACE1, MME, PSEN1
11smooth endoplasmic reticulum calcium ion homeostasisGO:00515639.9APP, PSEN1
12negative regulation of endopeptidase activityGO:00109519.8APP, CST3, SERPINA3
13response to oxidative stressGO:00069799.4APOE, APP, CST3, PRNP, PSEN1
14retinoid metabolic processGO:00015239.1APOE, LRP1, TTR
15cellular protein metabolic processGO:00442678.3APP, BACE1, CST3, GSN, ITM2B, PSEN1

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:000419010.5BACE1, PSEN1
2endopeptidase activityGO:000417510.0BACE1, MME, PSEN1
3peptidase activityGO:000823310.0BACE1, MME, PSEN1
4beta-amyloid bindingGO:00015409.9APOE, BACE1, CST3, ITM2B
5identical protein bindingGO:00428029.6APOE, APP, CST3, PRNP, TTR
6protein bindingGO:00055155.0APOE, APP, BACE1, CST3, GSN, HSPB6

Sources for Cerebral Amyloid Angiopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet