MCID: CRB019
MIFTS: 46

Cerebral Amyloid Angiopathy

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Cerebral Amyloid Angiopathy

MalaCards integrated aliases for Cerebral Amyloid Angiopathy:

Name: Cerebral Amyloid Angiopathy 54 12 50 71 29 13 14 69
Hereditary Cerebral Hemorrhage with Amyloidosis 50 24 56 71
Hchwa 50 24 56 71
Hereditary Cystatin C Amyloid Angiopathy 56 71 69
Cerebral Amyloid Angiopathy, Familial 50 42
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 56
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 71
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 12
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 69
Cerebral Hemorrhage, Hereditary with Amyloidosis 24
Dutch Hereditary Cerebral Amyloid Angiopathy 12
Amyloidosis, Cerebroarterial, Icelandic Type 24
Cerebroarterial Amyloidosis Icelandic Type 71
Cerebral Amyloid Angiopathy, Cst3-Related 24
Cerebral Amyloid Angiopathy Cst3-Related 71
Cerebral Amyloid Angiopathy, Hereditary 69
Cerebral Amyloid Angiopathy, Genetic 50
Familial Cerebral Amyloid Angiopathy 69
Cst3-Related Amyloidosis 56
Cystatin C Amyloidosis 71
Hchwa, Icelandic Type 56
Cystatin Amyloidosis 56
Acys Amyloidosis 56
Amyloidosis Vi 24
Caa, Familial 50
Amyloidosis 6 71
Hchwa-I 71
Hchwai 71
Hccaa 71
Amyl6 71
Acys 71
Caa 71

Characteristics:

Orphanet epidemiological data:

56
hereditary cerebral hemorrhage with amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;
acys amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset 3rd to 4th decade of life
death before age 40
icelandic families


HPO:

32
cerebral amyloid angiopathy:
Mortality/Aging death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 105150
Disease Ontology 12 DOID:9246
MeSH 42 D028243
SNOMED-CT 64 56453003
UMLS via Orphanet 70 C1510489 C1527338
ICD10 via Orphanet 34 E85.4+ I68.0*
ICD10 33 I68.0
UMLS 69 C0268394

Summaries for Cerebral Amyloid Angiopathy

NIH Rare Diseases : 50 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 stroke, cerebral hemorrhage and dementia. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (Cystatin C). Affiliated tissues include brain, cortex and spleen.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA). (105150)

Disease Ontology : 12 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.

Wikipedia : 72 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

Related Diseases for Cerebral Amyloid Angiopathy

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 54)
id Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants 12.6
2 hereditary cerebral amyloid angiopathy 12.6
3 dementia, familial british 12.0
4 alzheimer disease 11.9
5 dementia, familial danish 11.9
6 aural atresia, congenital 11.7
7 gerstmann-straussler disease 11.3
8 cerebritis 11.2
9 hereditary amyloidosis 11.2
10 dementia 10.6
11 siderosis 10.5
12 superficial siderosis 10.5
13 cerebral hemorrhage 10.4
14 encephalopathy 10.3
15 amyloidosis 10.2
16 primary angiitis of the central nervous system 10.1
17 vascular dementia 10.1
18 neuronitis 10.1
19 polyneuropathy 10.1
20 arteriosclerosis 10.0
21 granulomatous angiitis 10.0
22 brain injury 10.0
23 traumatic brain injury 10.0
24 atrial fibrillation 10.0
25 endotheliitis 10.0
26 creutzfeldt-jakob disease 10.0
27 vasculitis 10.0
28 meningitis 10.0
29 atherosclerosis 9.9
30 ischemia 9.9
31 paresthesia 9.9
32 subcortical arteriosclerotic encephalopathy 9.9
33 hemosiderosis 9.9
34 adenocarcinoma 9.9
35 adenocarcinoma in situ 9.9
36 rheumatoid vasculitis 9.8
37 motor neuron disease 9.8
38 retinitis 9.8
39 head injury 9.8
40 breast cancer 9.8
41 benign meningioma 9.8
42 hypoxia 9.8
43 obesity 9.8
44 cerebral artery occlusion 9.8
45 prosopagnosia 9.8
46 choroiditis 9.8
47 central nervous system vasculitis 9.8
48 cerebrovascular disease 9.8
49 dementia pugilistica 9.8
50 down syndrome 9.8

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



Diseases related to Cerebral Amyloid Angiopathy

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dementia
intracranial hemorrhage
premature stroke

Laboratory- Abnormalities:
generalized amyloid deposition
abnormally low cerebrospinal fluid cystatin c


Clinical features from OMIM:

105150

Human phenotypes related to Cerebral Amyloid Angiopathy:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 56 32 hallmark (90%) Very frequent (99-80%) HP:0001297
2 cerebral hemorrhage 56 32 hallmark (90%) Very frequent (99-80%) HP:0001342
3 cerebral amyloid angiopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0011970
4 dementia 32 HP:0000726
5 generalized amyloid deposition 32 HP:0003216
6 intracranial hemorrhage 32 HP:0002170
7 death in early adulthood 56 Occasional (29-5%)
8 amyloidosis 56 Frequent (79-30%)

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 A Study of CNP520 Versus Placebo in Participants at Risk for the Onset of Clinical Symptoms of Alzheimer's Disease Recruiting NCT03131453 Phase 2, Phase 3 CNP520 50mg;CNP520 15mg
2 Study Evaluating the Safety,Tolerability and Efficacy of PF-04360365 in Adults With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
3 Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
4 Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
5 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
6 Amyloid Imaging and Cognitive Impairment After Intracerebral Hemorrhage Recruiting NCT01619709
7 Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Active, not recruiting NCT01856699
8 Cerebral Infarction and White Substance in Angiopathy Cerebral Amyloid Active, not recruiting NCT03262246
9 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894
10 Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial Hemosiderosis Not yet recruiting NCT02664571
11 Use Lay Language. CAA-ri : a Series of 28 Patients Terminated NCT03187886
12 F-18-AV-45 Uptake, Spot Sign Presence and Cerebral Amyloid Angiopathy (CAA) in Primary Intracranial Hemorrhage (ICH) Withdrawn NCT01382849

Search NIH Clinical Center for Cerebral Amyloid Angiopathy

Cochrane evidence based reviews: cerebral amyloid angiopathy, familial

Genetic Tests for Cerebral Amyloid Angiopathy

Genetic tests related to Cerebral Amyloid Angiopathy:

id Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy 29
2 Cerebral Amyloid Angiopathy, Cst3-Related 24 CST3

Anatomical Context for Cerebral Amyloid Angiopathy

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

39
Brain, Cortex, Spleen, Salivary Gland, Smooth Muscle, Bone, Endothelial

Publications for Cerebral Amyloid Angiopathy

Articles related to Cerebral Amyloid Angiopathy:

(show top 50) (show all 667)
id Title Authors Year
1
Teaching NeuroImages: Cerebral amyloid angiopathy-related inflammation presenting with isolated leptomeningitis. ( 28784645 )
2017
2
Florbetapir imaging in cerebral amyloid angiopathy-related hemorrhages. ( 28724587 )
2017
3
Convexity subarachnoid haemorrhage has a high risk of intracerebral haemorrhage in suspected cerebral amyloid angiopathy. ( 28154972 )
2017
4
Histological and immunohistochemical characteristics of cerebral amyloid angiopathy in elderly dogs. ( 27669976 )
2017
5
Tumoral Presentation of Homonymous Hemianopia and Prosopagnosia in Cerebral Amyloid Angiopathy-Related Inflammation. ( 28187081 )
2017
6
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and aA Literature Review. ( 27858710 )
2017
7
Dementia incidence and predictors in cerebral amyloid angiopathy patients without intracerebral hemorrhage. ( 28318355 )
2017
8
Amyloid-PET in sporadic cerebral amyloid angiopathy: A diagnostic accuracy meta-analysis. ( 28855406 )
2017
9
Radiologically Isolated Cerebral Amyloid Angiopathy-Related Inflammation. ( 28864038 )
2017
10
Identification of neurovascular changes associated with cerebral amyloid angiopathy from subject-specific hemodynamic response functions. ( 28145796 )
2017
11
Taxifolin inhibits amyloid-I^ oligomer formation and fully restores vascular integrity and memory in cerebral amyloid angiopathy. ( 28376923 )
2017
12
18F-AV-1451 PET Imaging in Three Patients with Probable Cerebral Amyloid Angiopathy. ( 28282808 )
2017
13
Imaging the Acute Formation of a Cortical Microbleed in Cerebral Amyloid Angiopathy. ( 27893876 )
2017
14
Imaging features of intracerebral hemorrhage with cerebral amyloid angiopathy: Systematic review and meta-analysis. ( 28700676 )
2017
15
Cerebral Amyloid Angiopathy in Stroke Medicine. ( 28179050 )
2017
16
Amyloid-Related Imaging Abnormalities inA an Aged Squirrel Monkey with Cerebral Amyloid Angiopathy. ( 28269776 )
2017
17
Sushi repeat-containing protein 1: a novel disease-associated molecule in cerebral amyloid angiopathy. ( 28478503 )
2017
18
Cerebral amyloid angiopathy in a young man with a history of traumatic brain injury: a case report and review of the literature. ( 27812816 )
2017
19
Cortical superficial siderosis and first-ever cerebral hemorrhage in cerebral amyloid angiopathy. ( 28356458 )
2017
20
Subdural hemorrhage from cerebral amyloid angiopathy-related intracerebral hemorrhage: a risk factor for postoperative hemorrhage. ( 28757406 )
2017
21
Lacunes: Black holes in our understanding of cerebral amyloid angiopathy. ( 28476757 )
2017
22
Thrombolysis-related Multiple Lobar Hemorrhaging in Cerebral Amyloid Angiopathy with Extensive Strictly Lobar Cerebral Microbleeding. ( 28717091 )
2017
23
Cerebral amyloid angiopathy as a cause of neurodegeneration. ( 28833176 )
2017
24
Cerebral amyloid angiopathy and implications for atrial fibrillation management. ( 28677558 )
2017
25
Lobar Hemorrhage Induced by Acquired Factor XIII Deficiency in a Patient with Cerebral Amyloid Angiopathy. ( 28801214 )
2017
26
I^-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy. ( 27903811 )
2017
27
Intracranial IL-17A overexpression decreases cerebral amyloid angiopathy by upregulation of ABCA1 in an animal model of Alzheimer's disease. ( 28526436 )
2017
28
Cerebrovascular function in presymptomatic and symptomatic individuals with hereditary cerebral amyloid angiopathy: a case-control study. ( 27989553 )
2017
29
Cerebral Amyloid Angiopathy-Related Microbleeds and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease. ( 27802236 )
2017
30
Hemorrhage recurrence risk factors in cerebral amyloid angiopathy: Comparative analysis of the overall small vessel disease severity score versus individual neuroimaging markers. ( 28870591 )
2017
31
Amyloid-PET in cerebral amyloid angiopathy: Detecting vascular amyloid deposits, not just blood. ( 28855405 )
2017
32
Relationship between white matter connectivity loss and cortical thinning in cerebral amyloid angiopathy. ( 28462514 )
2017
33
Creutzfeldt-Jakob disease, cerebral amyloid angiopathy and AI^-related angiitis with neuropsychiatric manifestations. ( 28176535 )
2017
34
The increasing impact of cerebral amyloid angiopathy: essential new insights for clinical practice. ( 28844070 )
2017
35
The role of amyloid beta clearance in cerebral amyloid angiopathy: more potential therapeutic targets. ( 28824801 )
2017
36
Distribution of lacunes in cerebral amyloid angiopathy and hypertensive small vessel disease. ( 28476760 )
2017
37
Cerebral amyloid angiopathy: subtypes, treatment and role in cognitive impairment. ( 28879426 )
2017
38
Emerging concepts in sporadic cerebral amyloid angiopathy. ( 28334869 )
2017
39
MRI-visible perivascular spaces in cerebral amyloid angiopathy and hypertensive arteriopathy. ( 28228568 )
2017
40
UNC5C variants are associated with cerebral amyloid angiopathy. ( 28761931 )
2017
41
Chronic cerebral hypoperfusion alters amyloid-I^ peptide pools leading to cerebral amyloid angiopathy, microinfarcts and haemorrhages in Tg-SwDI mice. ( 28667120 )
2017
42
Cerebral amyloid angiopathy initially occurs in the meningeal vessels. ( 28836300 )
2017
43
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. ( 28463681 )
2017
44
Inflammatory variant of cerebral amyloid angiopathy. ( 28734389 )
2017
45
Cerebral amyloid angiopathy: a long-term consequence of traumatic brain injury? ( 27796651 )
2017
46
Cerebral Amyloid Angiopathy: Diagnosis, Clinical Implications, and Management Strategies in Atrial Fibrillation. ( 28838368 )
2017
47
Visuospatial Functioning in Cerebral Amyloid Angiopathy: A Pilot Study. ( 28222510 )
2017
48
Progression of Brain Network Alterations in Cerebral Amyloid Angiopathy. ( 27576378 )
2016
49
Vicinity of FLAIR Hyperintensities and SWI Microbleeds in Cerebral Amyloid Angiopathy-Related Inflammation. ( 27115699 )
2016
50
Total Magnetic Resonance Imaging Burden of Small Vessel Disease in Cerebral Amyloid Angiopathy: An Imaging-Pathologic Study of Concept Validation. ( 27366898 )
2016

Variations for Cerebral Amyloid Angiopathy

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

71
id Symbol AA change Variation ID SNP ID
1 CST3 p.Leu94Gln VAR_002207 rs28939068

ClinVar genetic disease variations for Cerebral Amyloid Angiopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CST3 NM_000099.3(CST3): c.281T> A (p.Leu94Gln) single nucleotide variant Pathogenic rs28939068 GRCh37 Chromosome 20, 23615967: 23615967

Expression for Cerebral Amyloid Angiopathy

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

Pathways for Cerebral Amyloid Angiopathy

GO Terms for Cerebral Amyloid Angiopathy

Sources for Cerebral Amyloid Angiopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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