MCID: CRB019
MIFTS: 56

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 49 10 11 45 47 12 67 24 65
Hereditary Cerebral Hemorrhage with Amyloidosis 45 22 51 67
Hchwa 45 22 51 67
Hereditary Cystatin C Amyloid Angiopathy 67 65
Caa 45 67
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 67
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 10
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 65
Cerebral Hemorrhage, Hereditary with Amyloidosis 22
Amyloidosis, Cerebroarterial, Icelandic Type 22
Dutch Hereditary Cerebral Amyloid Angiopathy 10
Cerebroarterial Amyloidosis Icelandic Type 67
Cst3-Related Cerebral Amyloid Angiopathy 22
Cerebral Amyloid Angiopathy Cst3-Related 67
 
Cerebral Amyloid Angiopathy, Hereditary 65
Cerebral Amyloid Angiopathy, Familial 36
Familial Cerebral Amyloid Angiopathy 65
Senile Cerebral Amyloid Angiopathy 45
Cystatin C Amyloidosis 67
Amyloid Angiopathy 65
Amyloidosis Vi 22
Amyloidosis 6 67
Hchwa-I 67
Hchwai 67
Hccaa 67
Amyl6 67
Acys 67

Characteristics:

Orphanet epidemiological data:

51
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

61
cerebral amyloid angiopathy:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 105150
Disease Ontology10 DOID:9246
MeSH36 D028243
Orphanet51 85458
SNOMED-CT59 56453003
ICD10 via Orphanet28 E85.4+, I68.0*
ICD1027 I68.0
UMLS65 C0268394, C0085220, C0268393 C1510489, C2931784, C1527338, C3839957, more

Summaries for Cerebral Amyloid Angiopathy

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NIH Rare Diseases:45 Cerebral amyloid angiopathy (caa) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins).  although caa often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients.  the majority of caa cases occur in individuals who do not have a family history. however, two familial forms of caa have been identified. last updated: 2/5/2009

MalaCards based summary: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, is related to dementia, familial danish and gerstmann-straussler disease, and has symptoms including cerebral ischemia, generalized amyloid deposition and intracranial hemorrhage. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (Cystatin C), and among its related pathways are Glypican 1 network and Metabolism of fat-soluble vitamins. Affiliated tissues include brain, salivary gland and cortex, and related mouse phenotypes are muscle and integument.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 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:49 Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and... (105150) more...

Wikipedia:68 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 450)
idRelated DiseaseScoreTop Affiliating Genes
1dementia, familial danish33.7APP, ITM2B
2gerstmann-straussler disease32.4APOE, APP, PRNP
3personality disorder30.5APP, MME
4cerebritis30.4APOE, APP, GSN
5cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants13.0
6hereditary cerebral amyloid angiopathy12.9
7dementia, familial british12.3
8acys amyloidosis12.0
9alzheimer disease12.0
10aural atresia, congenital11.7
11itm2b amyloidosis11.6
12abeta amyloidosis, dutch type11.4
13hereditary amyloidosis10.7
14breast cancer10.5
15prostatitis10.5
16hepatitis10.5
17leukemia10.5
18hereditary hypophosphatemic rickets10.4APP, CST3
19rheumatoid arthritis10.4
20arthritis10.4
21neuropathy10.4
22cerebral palsy10.4APP, CST3
23prostate cancer10.3
24lymphoma10.3
25cervicitis10.3
26adenocarcinoma10.3
27meningitis10.3
28aneurysm10.3
29birdshot chorioretinopathy10.3APOE, APP
30communicating hydrocephalus10.3APOE, APP
31systemic lupus erythematosus10.3
32lung cancer10.3
33aplastic anemia10.3
34kawasaki disease10.3
35endocarditis10.3
36melanoma10.3
37tuberculosis10.3
38adenoma10.3
39thyroiditis10.3
40lupus erythematosus10.3
41toxoplasmosis10.3
42endotheliitis10.3
43eccentrochondrodysplasia10.3APP, PSEN1
44neurogenic bowel10.3APOE, PSEN1
45retinal arteries, tortuosity of10.2APOE, APP, CST3
46semmekrot haraldsson weemaes syndrome10.2APOE, PSEN1
47giant axonal neuropathy10.2APOE, PRNP
48schizophrenia10.2
49colorectal cancer10.2
50hiv-110.2

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



Diseases related to cerebral amyloid angiopathy

Symptoms for Cerebral Amyloid Angiopathy

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Symptoms by clinical synopsis from OMIM:

105150

Clinical features from OMIM:

105150

HPO human phenotypes related to Cerebral Amyloid Angiopathy:

(show all 6)
id Description Frequency HPO Source Accession
1 cerebral ischemia hallmark (90%) HP:0002637
2 generalized amyloid deposition HP:0003216
3 intracranial hemorrhage HP:0002170
4 cerebral hemorrhage HP:0001342
5 stroke HP:0001297
6 dementia HP:0000726

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
3Superficial Siderosis in Patients With Suspected Cerebral Amyloid AngiopathyRecruitingNCT01856699
4Amyloid Imaging and Cognitive Impairment After Intracerebral HemorrhageRecruitingNCT01619709
5Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
6Methods of Etiological Diagnosis of Cerebral Amyloid AngiopathyNot yet recruitingNCT02361411
7Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial HemosiderosisNot yet recruitingNCT02664571
8F-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 Cst3-Related Cerebral Amyloid Angiopathy22 CST3

Anatomical Context for Cerebral Amyloid Angiopathy

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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

33
Brain, Salivary gland, Cortex, Spleen, Breast, Bone, Lung

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2APOE, APP, CST3, LRP1, PRNP, PSEN1
2MP:00107717.9APOE, APP, GSN, MME, PRNP, PSEN1
3MP:00053897.6APOE, APP, CST3, GSN, LRP1, PRNP
4MP:00053977.1APOE, APP, GSN, IDE, LRP1, PRNP
5MP:00036316.7APOE, APP, CST3, GSN, IDE, ITM2B
6MP:00053876.4APOE, APP, GSN, IDE, LRP1, MME
7MP:00053765.9APOE, APP, CST3, GSN, IDE, LRP1

Publications for Cerebral Amyloid Angiopathy

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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 567)
idTitleAuthorsYear
1
Cognitive Function of Patients with Crohn's Disease is Associated with Intestinal Disease Activity. (26398711)
2015
2
Comparing The Cost-Effectiveness of Apcc Vs Rfviia In on-Demand Treatment of Bleeds In Hemophilia A Patients With Inhibitors: A Brazilian Public Health System Perspective. (26533735)
2015
3
Corneal Hydrops in Pellucid Marginal Degeneration: A Case Series. (26265904)
2015
4
Risk of hepatocellular carcinoma and cancers at other sites among patients diagnosed with chronic hepatitis B virus infection in Sweden. (24038002)
2014
5
Erratum for healthy baby: managing cervical lymphadenitis-a totalpain in the neck! (25692520)
2014
6
Cardiometabolic profile, clinical features, quality of life and treatment outcomes in patients with moderate-to-severe psoriasis and psoriatic arthritis. (24283931)
2013
7
Improving the uptake of screening for diabetic retinopathy. (23373479)
2013
8
Percutaneous transluminal pulmonary valvuloplasty in a child with tricuspid atresia, ventricular septal defect, and severe pulmonary valve stenosis: Usefulness of the Femoral Artery Approach. (24030841)
2013
9
A descriptive study of persistent oxaliplatin-induced peripheral neuropathy in patients with colorectal cancer. (24122404)
2013
10
The relationship between visual field index and estimated number of retinal ganglion cells in glaucoma. (24146895)
2013
11
Comorbidity of attention-deficit/hyperactivity disorder and bipolar disorder in North Indian clinic children and adolescents. (23642982)
2013
12
Eating Disorders and Disordered Eating in Type 1 Diabetes: Prevalence, Screening, and Treatment Options. (24022608)
2013
13
Prevention of hypoglycemia-induced neuronal death by minocycline. (22998689)
2012
14
Spherical harmonic analysis of cortical complexity in autism and dyslexia. (22545198)
2012
15
Ask the doctor. My doctor told me I have pericardial effusion. I know it has something to do with fluid in the heart. Can you tell me more? (21695862)
2011
16
Trochanteric bursitis after total hip arthroplasty: incidence and evaluation of response to treatment. (19261433)
2010
17
Autoantibodies against aquaporin-4 in patients with neuropsychiatric systemic lupus erythematosus and primary SjAPgren's syndrome. (20131265)
2010
18
Modeling the epidemiological history of plague in Central Asia: palaeoclimatic forcing on a disease system over the past millennium. (20799946)
2010
19
Angina pectoris in consequence of subtotal subclavian artery stenosis 2 years after CABG. (20072978)
2010
20
Effect of retinal photocoagulation on intraretinal lipid exudates in diabetic macular edema documented by optical coherence tomography. (20079541)
2010
21
Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80. (19092807)
2009
22
Renal cell carcinoma and antiangiogenic therapies]. (18035517)
2008
23
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
24
Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment. (19367720)
2008
25
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
26
A phase II study evaluating bevacizumab in combination with fixed-dose rate gemcitabine and low-dose cisplatin for metastatic pancreatic cancer: is an anti-VEGF strategy still applicable? (18379729)
2008
27
Association of VASP with TRPC4 in PKG-mediated inhibition of the store-operated calcium response in mesangial cells. (17913834)
2007
28
Frequency of the IVS4+66A-G polymorphism in the alpha-synuclein gene in patients with Parkinson's disease in north-western Mexico]. (17199224)
2007
29
CCAAT/enhancer-binding protein (C/EBP) beta is acetylated at multiple lysines: acetylation of C/EBPbeta at lysine 39 modulates its ability to activate transcription. (17110376)
2007
30
Development of an enteric-coated formulation containing freeze-dried, viable recombinant Lactococcus lactis for the ileal mucosal delivery of human interleukin-10. (15927456)
2005
31
Ectoine alters subcellular localization of inclusions and reduces apoptotic cell death induced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (16137577)
2005
32
Risk of brain tumors in children and susceptibility to organophosphorus insecticides: the potential role of paraoxonase (PON1). (16002382)
2005
33
Essential role of MD-2 in TLR4-dependent signaling during Helicobacter pylori-associated gastritis. (15240737)
2004
34
Impact of IL-1 genotype and smoking status on the prognosis of osseointegrated implants. (15248873)
2004
35
Egr-1 induction in rat granulosa cells by follicle-stimulating hormone and luteinizing hormone: combinatorial regulation by transcription factors cyclic adenosine 3',5'-monophosphate regulatory element binding protein, serum response factor, sp1, and early growth response factor-1. (12554779)
2003
36
Herpes simplex virus glycoproteins gD and gE/gI serve essential but redundant functions during acquisition of the virion envelope in the cytoplasm. (12857917)
2003
37
Plain radiography of the lumbosacral spine in Marfan syndrome. (14589463)
2002
38
Serum levels of soluble IL-2 receptor, IL-12, IL-18, and IFN-gamma in patients with acute graft-versus-host disease after allogeneic bone marrow transplantation. (10887333)
2000
39
Extensive surface phenotyping of alveolar macrophages in interstitial lung disease. (10607488)
2000
40
Mechanism of mammalian soluble epoxide hydrolase inhibition by chalcone oxide derivatives. (9705212)
1998
41
Transcription factors in early development of the central nervous system. (9004232)
1996
42
Pharmacodynamic modeling of finasteride, a 5 alpha-reductase inhibitor. (7479205)
1995
43
Anesthetic management for a patient with citrullinemia and liver cirrhosis]. (7699832)
1995
44
Yttrium-90 chimeric L6 therapy of human breast cancer in nude mice and apoptosis-related messenger RNA expression. (7493356)
1995
45
Thrombopoietic activity of human interleukin-6. (2298297)
1990
46
A possible role of proopiomelanocortin peptides in self-injurious behavior. (2097668)
1990
47
Primary intestinal lymphangiectasia. Case report with radiological and ultrastructural study. (7227669)
1981
48
Dysgerminoma ovarii. (20247858)
1947
49
50

Variations for Cerebral Amyloid Angiopathy

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

67
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)single nucleotide variantPathogenicrs28939068GRCh37Chr 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:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.9APP, LRP1
2rough endoplasmic reticulumGO:00057919.8APP, PSEN1
3dendriteGO:00304258.7APOE, LRP1, MME, PSEN1
4focal adhesionGO:00059258.5GSN, LRP1, MME

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cholesterol effluxGO:001087510.2APOE, LRP1
2cholesterol metabolic processGO:000820310.2APOE, APP
3amyloid fibril formationGO:19900009.9APP, GSN
4beta-amyloid metabolic processGO:00504359.4IDE, MME, PSEN1
5protein processingGO:00164859.4IDE, PSEN1
6retinoid metabolic processGO:00015239.2APOE, LRP1, TTR
7extracellular matrix organizationGO:00301989.0APP, PSEN1, TTR
8response to oxidative stressGO:00069798.6APOE, APP, PRNP, PSEN1

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.8CST3, LRP1

Sources for Cerebral Amyloid Angiopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet