CAA
MCID: HRD084
MIFTS: 31

Hereditary Cerebral Amyloid Angiopathy (CAA)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Cerebral Amyloid Angiopathy

MalaCards integrated aliases for Hereditary Cerebral Amyloid Angiopathy:

Name: Hereditary Cerebral Amyloid Angiopathy 25 54
Autosomal Dominant Cerebrovascular Amyloidosis 25
Cerebral Amyloid Angiopathy, Hereditary 71
Cerebral Amyloid Angiopathy, Familial 25
Cerebral Amyloid Angiopathy, Genetic 25
Familial Cerebral Amyloid Angiopathy 71
Hchwa 25
Caa 25

Classifications:



External Ids:

UMLS 71 C0268393 C1510489

Summaries for Hereditary Cerebral Amyloid Angiopathy

Genetics Home Reference : 25 Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer. There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed. The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy). People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia. The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties. Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus). Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.

MalaCards based summary : Hereditary Cerebral Amyloid Angiopathy, also known as autosomal dominant cerebrovascular amyloidosis, is related to cerebral amyloid angiopathy, app-related and cerebral amyloid angiopathy, cst3-related. An important gene associated with Hereditary Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways/superpathways are Neuroscience and A-beta Pathways: Plaque Formation and APP Metabolism. The drugs Phenol and Sclerosing Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and smooth muscle.

Related Diseases for Hereditary Cerebral Amyloid Angiopathy

Diseases in the Hereditary Cerebral Amyloid Angiopathy family:

Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 2
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, App-Related

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, app-related 32.3 CST3 APP
2 cerebral amyloid angiopathy, cst3-related 32.2 CST3 APP
3 amyloidosis 29.8 CST3 APP
4 hemorrhage, intracerebral 29.6 CST3 APP
5 cerebral amyloid angiopathy, itm2b-related, 1 29.5 CST3 APP
6 prion disease 29.5 CST3 APP
7 vascular dementia 29.4 CST3 APP
8 aural atresia, congenital 12.4
9 cerebral amyloid angiopathy, itm2b-related, 2 11.6
10 lysinuric protein intolerance 11.6
11 analbuminemia 11.6
12 autosomal dominant cerebellar ataxia 10.4
13 schistosoma mansoni infection, susceptibility/ 10.4
14 schistosomiasis 10.4
15 ataxia and polyneuropathy, adult-onset 10.4
16 thalassemia 10.3
17 spinocerebellar ataxia 2 10.3
18 schizophrenia 10.2
19 spinocerebellar ataxia 17 10.2
20 alzheimer disease 10.2
21 huntington disease 10.2
22 parkinson disease, late-onset 10.2
23 vascular hyalinosis 10.2
24 retinal microaneurysm 10.2
25 granulomatous angiitis 10.2
26 alcohol dependence 10.1
27 gerstmann-straussler disease 10.1
28 arterial calcification, generalized, of infancy, 1 10.1
29 siderosis 10.1
30 superficial siderosis 10.1
31 breast cancer 10.1
32 alpha-thalassemia 10.1
33 helix syndrome 10.1
34 deficiency anemia 10.1
35 lateral sclerosis 10.1
36 newcastle disease 10.1
37 bronchitis 10.1
38 encephalopathy 10.1
39 headache 10.1
40 amyotrophic lateral sclerosis 1 9.9
41 machado-joseph disease 9.9
42 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
43 diabetes mellitus, insulin-dependent, 2 9.9
44 fanconi renotubular syndrome 1 9.9
45 multiple system atrophy 1 9.9
46 prostate cancer 9.9
47 hydrops fetalis, nonimmune 9.9
48 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 9.9
49 reticuloendotheliosis, x-linked 9.9
50 diabetes mellitus, insulin-dependent, 8 9.9

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



Diseases related to Hereditary Cerebral Amyloid Angiopathy

Symptoms & Phenotypes for Hereditary Cerebral Amyloid Angiopathy

Drugs & Therapeutics for Hereditary Cerebral Amyloid Angiopathy

Drugs for Hereditary Cerebral Amyloid Angiopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenol Approved, Experimental 108-95-2 996
2 Sclerosing Solutions
3 Olive
4 Pharmaceutical Solutions
5 Disinfectants
6 Anti-Infective Agents
7 Anti-Infective Agents, Local

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
2 Multimodal Biomarkers for Diagnosis and Prognosis in Cerebral Amyloid Angiopathy Recruiting NCT03969732 Phase 3 1. amyloid PET;2. T807 PET
3 A Phase II Pilot Study of the Safety, Tolerability and Pharmacokinetics of Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
4 A Phase 2, Randomized, Double Blind Placebo Controlled Trial To Evaluate The Safety, Tolerability, Pharmacokinetics And Efficacy Of Pf-04360365 (Ponezumab) In Adult Subjects With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
5 A Research of the Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
6 Observational Study on the Prognostic Relevance of Supratentorial Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Unknown status NCT01856699
7 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
8 Extra-virgin Olive Oil Prevents Mild Cognitive Impairment Conversion to Alzheimer's Disease Recruiting NCT03824197
9 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344
10 SEarchiNg biomarkErs Cerebral Amyloid Angiopathy (SENECA): Italian Network for the Study of CAA Not yet recruiting NCT04204642
11 A Clinico-radiological Reappraisal of Cerebral Amyloid Angiopathy-related Inflammation in 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 Hereditary Cerebral Amyloid Angiopathy

Genetic Tests for Hereditary Cerebral Amyloid Angiopathy

Anatomical Context for Hereditary Cerebral Amyloid Angiopathy

MalaCards organs/tissues related to Hereditary Cerebral Amyloid Angiopathy:

40
Eye, Brain, Smooth Muscle, Testes, Liver

Publications for Hereditary Cerebral Amyloid Angiopathy

Articles related to Hereditary Cerebral Amyloid Angiopathy:

(show top 50) (show all 139)
# Title Authors PMID Year
1
[From gene to disease; amyloid-beta precursor protein gene instrumental in hereditary cerebral amyloid angiopathies]. 61 54
11552366 2001
2
Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer's disease and not in other tauopathies. 61
31796108 2019
3
Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy. 61
30868685 2019
4
Early Aβ reduction prevents progression of cerebral amyloid angiopathy. 61
31359452 2019
5
Amyloid imaging of dutch-type hereditary cerebral amyloid angiopathy carriers. 61
31361916 2019
6
Multiple Approaches to Diffusion Magnetic Resonance Imaging in Hereditary Cerebral Amyloid Angiopathy Mutation Carriers. 61
30717612 2019
7
Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient. 61
30611017 2019
8
Cerebral Amyloid Angiopathy With Vascular Iron Accumulation and Calcification. 61
30354978 2018
9
TGFβ pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type. 61
28557134 2018
10
Innovative Magnetic Resonance Imaging Markers of Hereditary Cerebral Amyloid Angiopathy at 7 Tesla. 61
29695466 2018
11
Synthesis and physicochemical studies of amyloidogenic hexapeptides derived from human cystatin C. 61
29573035 2018
12
Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type. 61
29706885 2018
13
Preparation and Culturing of Human Primary Vascular Cells. 61
29886543 2018
14
Cerebrovascular function in presymptomatic and symptomatic individuals with hereditary cerebral amyloid angiopathy: a case-control study. 61
27989553 2017
15
β-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy. 61
27903811 2017
16
Early Magnetic Resonance Imaging and Cognitive Markers of Hereditary Cerebral Amyloid Angiopathy. 61
27834748 2016
17
Recurrent hemorrhage risk and mortality in hereditary and sporadic cerebral amyloid angiopathy. 61
27590282 2016
18
Cortical atrophy in patients with cerebral amyloid angiopathy: a case-control study. 61
27180034 2016
19
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry. 61
27245348 2016
20
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. 61
27000221 2016
21
Do Attachment Style and Emotion Regulation Strategies Indicate Distress in Predictive Testing? 61
25641254 2015
22
Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. 61
26104569 2015
23
Exploring the 'aggregation-prone' core of human Cystatin C: A structural study. 61
26235923 2015
24
Offspring of a parent with genetic disease: childhood experiences and adult psychological characteristics. 61
24274803 2014
25
[Cerebral amyloid angiopathy]. 61
24998827 2014
26
Tissue transglutaminase colocalizes with extracellular matrix proteins in cerebral amyloid angiopathy. 61
23122413 2013
27
[Hereditary cerebral small-vessel disease]. 61
23631251 2013
28
Extracellular matrix modulator lysyl oxidase colocalizes with amyloid-beta pathology in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis--Dutch type. 61
23267843 2013
29
Lombardia GENS: a collaborative registry for monogenic diseases associated with stroke. 61
23158583 2012
30
Isolation of amyloid by solubilization in water. 61
22528105 2012
31
Preparation of cultured human vascular cells. 61
22528095 2012
32
Cystatin C in Alzheimer's disease. 61
22783166 2012
33
Aggregation and cytotoxic properties towards cultured cerebrovascular cells of Dutch-mutated Abeta40 (DAbeta(1-40)) are modulated by sulfate moieties of heparin. 61
20036698 2010
34
Cerebral amyloidosis: postmortem detection with human 7.0-T MR imaging system. 61
19789230 2009
35
E22Q-mutant Abeta peptide (AbetaDutch) increases vascular but reduces parenchymal Abeta deposition. 61
19218342 2009
36
Small heat shock proteins associated with cerebral amyloid angiopathy of hereditary cerebral hemorrhage with amyloidosis (Dutch type) induce interleukin-6 secretion. 61
17629591 2009
37
Detection of isolated cerebrovascular beta-amyloid with Pittsburgh compound B. 61
19067370 2008
38
The genetic architecture of intracerebral hemorrhage. 61
18467649 2008
39
Carbon 11-labeled pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplication. 61
18413480 2008
40
Effect of liver transplantation on transthyretin Tyr114Cys-related cerebral amyloid angiopathy. 61
18180441 2008
41
Solubilized cystatin C amyloid is cytotoxic to cultured human cerebrovascular smooth muscle cells. 61
17963746 2007
42
Cerebral vascular accumulation of Dutch-type Abeta42, but not wild-type Abeta42, in hereditary cerebral hemorrhage with amyloidosis, Dutch type. 61
17628026 2007
43
Small heat shock protein HspB8: its distribution in Alzheimer's disease brains and its inhibition of amyloid-beta protein aggregation and cerebrovascular amyloid-beta toxicity. 61
16485107 2006
44
Studies on the first described Alzheimer's disease amyloid beta mutant, the Dutch variant. 61
16914871 2006
45
The role of cystatin C in cerebral amyloid angiopathy and stroke: cell biology and animal models. 61
16612983 2006
46
A Western Australian kindred with Dutch cerebral amyloid angiopathy. 61
16213528 2005
47
Hereditary cerebral hemorrhage with amyloidosis-Dutch type. 61
16382777 2005
48
Purification of human wild-type or variant cystatin C from conditioned media of transfected cells. 61
15980605 2005
49
Isolation and culturing of human vascular smooth muscle cells. 61
15980603 2005
50
Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis. 61
15311281 2004

Variations for Hereditary Cerebral Amyloid Angiopathy

Expression for Hereditary Cerebral Amyloid Angiopathy

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

Pathways for Hereditary Cerebral Amyloid Angiopathy

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

# Super pathways Score Top Affiliating Genes
1 11.49 CST3 APP
2 9.98 CST3 APP

GO Terms for Hereditary Cerebral Amyloid Angiopathy

Cellular components related to Hereditary Cerebral Amyloid Angiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 CST3 APP

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.26 CST3 APP
2 cellular protein metabolic process GO:0044267 9.16 CST3 APP
3 negative regulation of endopeptidase activity GO:0010951 8.96 CST3 APP
4 negative regulation of peptidase activity GO:0010466 8.62 CST3 APP

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

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 8.62 CST3 APP

Sources for Hereditary Cerebral Amyloid Angiopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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