AMYL6
MCID: CRB172
MIFTS: 63

Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

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

Aliases & Classifications for Cerebral Amyloid Angiopathy, Cst3-Related

MalaCards integrated aliases for Cerebral Amyloid Angiopathy, Cst3-Related:

Name: Cerebral Amyloid Angiopathy, Cst3-Related 57
Cerebral Amyloid Angiopathy 57 12 76 53 75 37 29 13 55 15 73
Hereditary Cerebral Hemorrhage with Amyloidosis 57 12 53 59 75
Hchwa 57 12 53 59 75
Hereditary Cystatin C Amyloid Angiopathy 59 75 73
Cerebral Hemorrhage, Hereditary, with Amyloidosis 57 12
Amyloidosis, Cerebroarterial, Icelandic Type 57 12
Cerebral Amyloid Angiopathy, Familial 53 44
Amyloidosis Vi 57 12
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 59
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 75
Hereditary Cerebral Haemorrhage with Amyloidosis - Dutch Type 12
Hereditary Cerebral Hemorrhage with Amyloidosis; Hchwa 57
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 73
Dutch Hereditary Cerebral Amyloid Angiopathy 12
Angiopathy, Amyloid, Cerebral, Cst3-Related 40
Cerebroarterial Amyloidosis Icelandic Type 75
Cst3-Related Cerebral Amyloid Angiopathy 12
Cerebral Amyloid Angiopathy Cst3-Related 75
Cerebral Amyloid Angiopathy, Hereditary 73
Cerebral Amyloid Angiopathy, Genetic 53
Familial Cerebral Amyloid Angiopathy 73
Cst3-Related Amyloidosis 59
Cystatin C Amyloidosis 75
Hchwa, Icelandic Type 59
Cystatin Amyloidosis 59
Acys Amyloidosis 59
Caa, Familial 53
Amyloidosis 6 75
Hchwa-I 75
Hchwai 75
Hccaa 75
Amyl6 75
Acys 75
Caa 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
cerebral amyloid angiopathy, cst3-related:
Mortality/Aging death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 105150
Disease Ontology 12 DOID:0070027 DOID:9246
MeSH 44 D028243
SNOMED-CT 68 56453003
ICD10 via Orphanet 34 E85.4+ I68.0*
UMLS via Orphanet 74 C1510489 C1527338
KEGG 37 H01185
ICD10 33 I68.0

Summaries for Cerebral Amyloid Angiopathy, Cst3-Related

NIH Rare Diseases : 53 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.

MalaCards based summary : Cerebral Amyloid Angiopathy, Cst3-Related, also known as cerebral amyloid angiopathy, is related to cerebral amyloid angiopathy, itm2b-related, 2 and hereditary cerebral amyloid angiopathy. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Serotonergic synapse and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain, cortex and spleen, and related phenotypes are stroke and cerebral hemorrhage

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.

OMIM : 57 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)

CDC : 3 Childhood experiences, both positive and negative, have a tremendous impact on future violence victimization and perpetration, and lifelong health and opportunity. As such, early experiences are an important public health issue. Much of the foundational research in this area has been referred to as Adverse Childhood Experiences (ACEs).

UniProtKB/Swiss-Prot : 75 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 : 76 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

Related Diseases for Cerebral Amyloid Angiopathy, Cst3-Related

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 Cerebral Amyloid Angiopathy, Cst3-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 2 33.1 CST3 ITM2B
2 hereditary cerebral amyloid angiopathy 31.5 APP CST3
3 cerebral hemorrhage 31.0 APP CST3 PRNP
4 amyloidosis 28.0 APOE APP BACE1 CST3 PSEN1 TTR
5 cerebral amyloid angiopathy, app-related 12.0
6 aural atresia, congenital 11.9
7 hereditary amyloidosis 11.3
8 farber lipogranulomatosis 10.9
9 senile plaque formation 10.7 APOE APP
10 genetic prion diseases 10.6 APOE PRNP
11 cerebral amyloid angiopathy, itm2b-related, 1 10.6 APP ITM2B
12 alzheimer disease 4 10.6 APOE PSEN1
13 early-onset, autosomal dominant alzheimer disease 10.5 APP PSEN1
14 alexia 10.5 APOE PSEN1
15 simultanagnosia 10.5 APOE MAPT
16 posterior cortical atrophy 10.5 APOE MAPT
17 hemorrhage, intracerebral 10.5 APOE APP CST3
18 childhood disintegrative disease 10.4 APP MME
19 gerstmann-straussler disease 10.4 APP PRNP
20 progressive non-fluent aphasia 10.4 MAPT PSEN1
21 gait apraxia 10.4 APOE APP PSEN1
22 behavioral variant of frontotemporal dementia 10.4 MAPT PSEN1
23 akinetic mutism 10.3 MAPT PRNP
24 cerebritis 10.3
25 communicating hydrocephalus 10.3 APOE MAPT
26 echolalia 10.3 MAPT PSEN1
27 hydrocephalus, normal-pressure 10.2 APOE MAPT
28 binswanger's disease 10.2 APOE APP MAPT
29 amyloidosis, finnish type 10.2 APOE TTR
30 early-onset familial alzheimer disease 10.2 APP PSEN1
31 kluver-bucy syndrome 10.2 APP MAPT PSEN1
32 semantic dementia 10.2 APOE MAPT PSEN1
33 pancreatitis 10.1
34 leukoencephalopathy, hereditary diffuse, with spheroids 10.1 APP MAPT PRNP
35 aortic atherosclerosis 10.1 ABCA1 APOE
36 prion disease 10.1 APP MAPT PRNP
37 speech and communication disorders 10.1 APOE MAPT PSEN1
38 hypolipoproteinemia 10.1 ABCA1 APOE
39 agraphia 10.0 MAPT PRNP PSEN1
40 transient global amnesia 10.0 PRNP PSEN1
41 renal hypodysplasia/aplasia 1 10.0
42 adenocarcinoma 10.0
43 adenocarcinoma in situ 10.0
44 niemann-pick disease, type c1 9.9 ABCA1 APP MAPT
45 familial idiopathic basal ganglia calcification 9.9 APOE APP MAPT PSEN1
46 alzheimer disease 2 9.9 APOE APP MAPT PSEN1
47 pick disease of brain 9.9 APOE APP MAPT PSEN1
48 supranuclear palsy, progressive, 1 9.8 APOE APP MAPT PSEN1
49 creutzfeldt-jakob disease 9.8 APOE CST3 MAPT PRNP
50 breast cancer 9.8

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy, Cst3-Related:



Diseases related to Cerebral Amyloid Angiopathy, Cst3-Related

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Cst3-Related

Symptoms via clinical synopsis from OMIM:

57
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, Cst3-Related:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 59 32 hallmark (90%) Very frequent (99-80%) HP:0001297
2 cerebral hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0001342
3 cerebral amyloid angiopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0011970
4 death in early adulthood 59 Occasional (29-5%)
5 dementia 32 HP:0000726
6 intracranial hemorrhage 32 HP:0002170
7 amyloidosis 59 Frequent (79-30%)
8 generalized amyloid deposition 32 HP:0003216

MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 PSEN1 TTR ABCA1 APOE APP BACE1
2 behavior/neurological MP:0005386 10.11 APOE APP BACE1 ITM2B LRP1 MAPT
3 cellular MP:0005384 10.08 ABCA1 APOE APP BACE1 LRP1 MAPT
4 cardiovascular system MP:0005385 10.04 ABCA1 APOE APP CST3 LRP1 MAPT
5 immune system MP:0005387 10.03 ABCA1 APOE APP LRP1 MAPT MME
6 mortality/aging MP:0010768 10.02 ABCA1 APOE APP BACE1 CST3 LRP1
7 integument MP:0010771 10.01 APOE APP BACE1 LRP1 MAPT MME
8 muscle MP:0005369 9.97 ABCA1 APOE APP BACE1 CST3 LRP1
9 nervous system MP:0003631 9.96 ABCA1 APOE APP BACE1 CST3 ITM2B
10 no phenotypic analysis MP:0003012 9.7 APOE APP BACE1 ITM2B MAPT PRNP
11 reproductive system MP:0005389 9.5 APOE APP CST3 LRP1 PRNP PSEN1
12 vision/eye MP:0005391 9.1 ABCA1 APOE MAPT PRNP PSEN1 TTR

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Cst3-Related

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Application of Amyloid PET in Cerebral Amyloid Angiopathy Recruiting NCT03542656 Phase 3 amyloid PET
2 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
3 Study Evaluating the Safety,Tolerability and Efficacy of PF-04360365 in Adults With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
4 Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
5 Safety and Immunogenicity of Repeated Doses of ABvac40 in Patients With a-MCI or Vm-AD Recruiting NCT03461276 Phase 2
6 Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
7 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
8 Amyloid Imaging and Cognitive Impairment After Intracerebral Hemorrhage Recruiting NCT01619709 Not Applicable
9 BEAM: Brain-Eye Amyloid Memory Study Recruiting NCT02524405
10 Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Active, not recruiting NCT01856699
11 Cerebral Infarction and White Substance in Angiopathy Cerebral Amyloid Active, not recruiting NCT03262246
12 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894
13 Cortical Superficial Siderosis and Risk of Recurrent Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Not yet recruiting NCT03464344 Not Applicable
14 Use Lay Language. CAA-ri : a Series of 28 Patients Terminated NCT03187886
15 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, Cst3-Related

Cochrane evidence based reviews: cerebral amyloid angiopathy, familial

Genetic Tests for Cerebral Amyloid Angiopathy, Cst3-Related

Genetic tests related to Cerebral Amyloid Angiopathy, Cst3-Related:

# Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy 29

Anatomical Context for Cerebral Amyloid Angiopathy, Cst3-Related

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Cst3-Related:

41
Brain, Cortex, Spleen, Salivary Gland, Smooth Muscle, Bone, Eye

Publications for Cerebral Amyloid Angiopathy, Cst3-Related

Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:

(show top 50) (show all 677)
# Title Authors Year
1
Innovative Magnetic Resonance Imaging Markers of Hereditary Cerebral Amyloid Angiopathy at 7 Tesla. ( 29695466 )
2018
2
A Collet-Sicard syndrome due to internal carotid artery dissection associated with cerebral amyloid angiopathy-related inflammation. ( 29844914 )
2018
3
Cortical superficial siderosis and acute convexity subarachnoid hemorrhage in cerebral amyloid angiopathy. ( 29053885 )
2018
4
Atrophy patterns in cerebral amyloid angiopathy with and without cortical superficial siderosis. ( 29678935 )
2018
5
Acute convexity subarachnoid haemorrhage and cortical superficial siderosis in probable cerebral amyloid angiopathy without lobar haemorrhage. ( 29054916 )
2017
6
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. ( 28463681 )
2017
7
Relationship between white matter connectivity loss and cortical thinning in cerebral amyloid angiopathy. ( 28462514 )
2017
8
Histological and immunohistochemical characteristics of cerebral amyloid angiopathy in elderly dogs. ( 27669976 )
2017
9
Cerebral amyloid angiopathy and implications for atrial fibrillation management. ( 28677558 )
2017
10
Cerebral amyloid angiopathy: a long-term consequence of traumatic brain injury? ( 27796651 )
2017
11
Cerebral amyloid angiopathy in a young man with a history of traumatic brain injury: a case report and review of the literature. ( 27812816 )
2017
12
Tumoral Presentation of Homonymous Hemianopia and Prosopagnosia in Cerebral Amyloid Angiopathy-Related Inflammation. ( 28187081 )
2017
13
UNC5C variants are associated with cerebral amyloid angiopathy. ( 28761931 )
2017
14
Cerebral amyloid angiopathy: subtypes, treatment and role in cognitive impairment. ( 28879426 )
2017
15
Chronic cerebral hypoperfusion alters amyloid-I^ peptide pools leading to cerebral amyloid angiopathy, microinfarcts and haemorrhages in Tg-SwDI mice. ( 28667120 )
2017
16
18F-AV-1451 PET Imaging in Three Patients with Probable Cerebral Amyloid Angiopathy. ( 28282808 )
2017
17
Lacunes: Black holes in our understanding of cerebral amyloid angiopathy. ( 28476757 )
2017
18
MRI-visible perivascular spaces in cerebral amyloid angiopathy and hypertensive arteriopathy. ( 28228568 )
2017
19
Amyloid-PET in sporadic cerebral amyloid angiopathy: A diagnostic accuracy meta-analysis. ( 28855406 )
2017
20
Hemorrhage recurrence risk factors in cerebral amyloid angiopathy: Comparative analysis of the overall small vessel disease severity score versus individual neuroimaging markers. ( 28870591 )
2017
21
Cerebrovascular function in presymptomatic and symptomatic individuals with hereditary cerebral amyloid angiopathy: a case-control study. ( 27989553 )
2017
22
Cerebral Amyloid Angiopathy: Diagnosis, Clinical Implications, and Management Strategies in Atrial Fibrillation. ( 28838368 )
2017
23
Imaging the Acute Formation of a Cortical Microbleed in Cerebral Amyloid Angiopathy. ( 27893876 )
2017
24
Amyloid-Related Imaging Abnormalities inA an Aged Squirrel Monkey with Cerebral Amyloid Angiopathy. ( 28269776 )
2017
25
Cortical superficial siderosis and first-ever cerebral hemorrhage in cerebral amyloid angiopathy. ( 28356458 )
2017
26
Cerebral amyloid angiopathy initially occurs in the meningeal vessels. ( 28836300 )
2017
27
Florbetapir imaging in cerebral amyloid angiopathy-related hemorrhages. ( 28724587 )
2017
28
Cerebral amyloid angiopathy as a cause of neurodegeneration. ( 28833176 )
2017
29
Creutzfeldt-Jakob disease, cerebral amyloid angiopathy and AI^-related angiitis with neuropsychiatric manifestations. ( 28176535 )
2017
30
The increasing impact of cerebral amyloid angiopathy: essential new insights for clinical practice. ( 28844070 )
2017
31
Emerging concepts in sporadic cerebral amyloid angiopathy. ( 28334869 )
2017
32
The role of amyloid beta clearance in cerebral amyloid angiopathy: more potential therapeutic targets. ( 28824801 )
2017
33
Imaging features of intracerebral hemorrhage with cerebral amyloid angiopathy: Systematic review and meta-analysis. ( 28700676 )
2017
34
Convexity subarachnoid haemorrhage has a high risk of intracerebral haemorrhage in suspected cerebral amyloid angiopathy. ( 28154972 )
2017
35
I^-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy. ( 27903811 )
2017
36
Intravascular large B-cell lymphoma mimicking cerebral amyloid angiopathy-related inflammation. ( 29126561 )
2017
37
Taxifolin inhibits amyloid-I^ oligomer formation and fully restores vascular integrity and memory in cerebral amyloid angiopathy. ( 28376923 )
2017
38
Cortical superficial siderosis multifocality in cerebral amyloid angiopathy: A prospective study. ( 29070669 )
2017
39
Distribution of lacunes in cerebral amyloid angiopathy and hypertensive small vessel disease. ( 28476760 )
2017
40
Identification of neurovascular changes associated with cerebral amyloid angiopathy from subject-specific hemodynamic response functions. ( 28145796 )
2017
41
Lobar Hemorrhage Induced by Acquired Factor XIII Deficiency in a Patient with Cerebral Amyloid Angiopathy. ( 28801214 )
2017
42
Intracranial IL-17A overexpression decreases cerebral amyloid angiopathy by upregulation of ABCA1 in an animal model of Alzheimer's disease. ( 28526436 )
2017
43
Inflammatory variant of cerebral amyloid angiopathy. ( 28734389 )
2017
44
Visuospatial Functioning in Cerebral Amyloid Angiopathy: A Pilot Study. ( 28222510 )
2017
45
Sushi repeat-containing protein 1: a novel disease-associated molecule in cerebral amyloid angiopathy. ( 28478503 )
2017
46
Cerebral Amyloid Angiopathy in Stroke Medicine. ( 28179050 )
2017
47
Cerebral Amyloid Angiopathy-Related Microbleeds and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease. ( 27802236 )
2017
48
Amyloid-PET in cerebral amyloid angiopathy: Detecting vascular amyloid deposits, not just blood. ( 28855405 )
2017
49
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and aA Literature Review. ( 27858710 )
2017
50
Subdural hemorrhage from cerebral amyloid angiopathy-related intracerebral hemorrhage: a risk factor for postoperative hemorrhage. ( 28757406 )
2017

Variations for Cerebral Amyloid Angiopathy, Cst3-Related

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy, Cst3-Related:

75
# Symbol AA change Variation ID SNP ID
1 CST3 p.Leu94Gln VAR_002207 rs28939068

ClinVar genetic disease variations for Cerebral Amyloid Angiopathy, Cst3-Related:

6
# 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
2 CST3 NM_000099.3(CST3): c.281T> A (p.Leu94Gln) single nucleotide variant Pathogenic rs28939068 GRCh38 Chromosome 20, 23635330: 23635330

Expression for Cerebral Amyloid Angiopathy, Cst3-Related

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy, Cst3-Related.

Pathways for Cerebral Amyloid Angiopathy, Cst3-Related

Pathways related to Cerebral Amyloid Angiopathy, Cst3-Related according to KEGG:

37
# Name Kegg Source Accession
1 Serotonergic synapse hsa04726

GO Terms for Cerebral Amyloid Angiopathy, Cst3-Related

Cellular components related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.87 ABCA1 APOE APP BACE1 ITM2B PRNP
2 cell surface GO:0009986 9.8 ABCA1 APP BACE1 PRNP PSEN1
3 endoplasmic reticulum lumen GO:0005788 9.73 APOE APP BACE1 CST3
4 growth cone GO:0030426 9.69 APP MAPT PSEN1
5 neuronal cell body GO:0043025 9.65 APOE CST3 LRP1 MAPT PSEN1
6 smooth endoplasmic reticulum GO:0005790 9.57 APP PSEN1
7 multivesicular body GO:0005771 9.56 BACE1 CST3
8 membrane raft GO:0045121 9.55 ABCA1 APP BACE1 PRNP PSEN1
9 high-density lipoprotein particle GO:0034364 9.54 ABCA1 APOE
10 amyloid-beta complex GO:0106003 9.49 APOE PRNP
11 ciliary rootlet GO:0035253 9.46 APP PSEN1
12 dendrite GO:0030425 9.43 APOE LRP1 MAPT MME PRNP PSEN1
13 main axon GO:0044304 9.37 APP MAPT
14 axon GO:0030424 9.1 APP BACE1 CST3 MAPT MME PSEN1
15 plasma membrane GO:0005886 10.18 ABCA1 APOE APP BACE1 ITM2B LRP1
16 extracellular region GO:0005576 10.09 APOE APP CST3 HSPB6 ITM2B MAPT
17 integral component of plasma membrane GO:0005887 10 ABCA1 APP BACE1 LRP1 MME PSEN1

Biological processes related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.99 CST3 MME PSEN1 TTR
2 negative regulation of neuron apoptotic process GO:0043524 9.84 APOE LRP1 PSEN1
3 cholesterol metabolic process GO:0008203 9.8 ABCA1 APOE APP
4 positive regulation of protein binding GO:0032092 9.77 APP LRP1 PSEN1
5 response to oxidative stress GO:0006979 9.77 APOE APP CST3 PRNP PSEN1
6 retinoid metabolic process GO:0001523 9.75 APOE LRP1 TTR
7 learning or memory GO:0007611 9.74 APP PRNP PSEN1
8 synapse organization GO:0050808 9.72 APP MAPT PSEN1
9 positive regulation of neuron death GO:1901216 9.69 MAPT PRNP
10 positive regulation of phosphorylation GO:0042327 9.69 APP PSEN1
11 lipoprotein metabolic process GO:0042157 9.69 ABCA1 APOE LRP1
12 cholesterol efflux GO:0033344 9.68 ABCA1 APOE
13 positive regulation of dendritic spine development GO:0060999 9.68 APOE PSEN1
14 positive regulation of endocytosis GO:0045807 9.68 APOE LRP1
15 membrane protein ectodomain proteolysis GO:0006509 9.68 BACE1 PSEN1
16 regulation of protein binding GO:0043393 9.67 APP PSEN1
17 response to lead ion GO:0010288 9.67 APP MAPT
18 positive regulation of cholesterol efflux GO:0010875 9.67 ABCA1 APOE LRP1
19 reverse cholesterol transport GO:0043691 9.66 ABCA1 APOE
20 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.66 APP PRNP
21 cellular copper ion homeostasis GO:0006878 9.65 APP PRNP
22 supramolecular fiber organization GO:0097435 9.65 CST3 MAPT
23 high-density lipoprotein particle assembly GO:0034380 9.65 ABCA1 APOE
24 amyloid-beta metabolic process GO:0050435 9.65 BACE1 MME PSEN1
25 phospholipid efflux GO:0033700 9.64 ABCA1 APOE
26 regulation of protein metabolic process GO:0051246 9.64 APOE LRP1
27 amyloid precursor protein metabolic process GO:0042982 9.63 APOE PSEN1
28 amyloid-beta clearance GO:0097242 9.63 LRP1 MME
29 negative regulation of long-term synaptic potentiation GO:1900272 9.63 APOE APP PRNP
30 amyloid fibril formation GO:1990000 9.62 APP MAPT
31 negative regulation of amyloid-beta formation GO:1902430 9.61 APOE PRNP
32 regulation of cholesterol transport GO:0032374 9.61 APOE LRP1
33 astrocyte activation GO:0048143 9.61 APP MAPT PSEN1
34 regulation of Cdc42 protein signal transduction GO:0032489 9.6 ABCA1 APOE
35 lipoprotein biosynthetic process GO:0042158 9.58 ABCA1 APOE
36 modulation of age-related behavioral decline GO:0090647 9.58 APP PRNP PSEN1
37 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.56 APP PSEN1
38 cellular response to amyloid-beta GO:1904646 9.56 APP LRP1 PRNP PSEN1
39 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.54 APP PSEN1
40 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.52 APP PSEN1
41 neuron projection maintenance GO:1990535 9.5 APP PRNP PSEN1
42 positive regulation of amyloid fibril formation GO:1905908 9.33 APOE APP PSEN1
43 cellular protein metabolic process GO:0044267 9.17 APOE APP BACE1 CST3 ITM2B PSEN1
44 astrocyte activation involved in immune response GO:0002265 9.13 APP LRP1 PSEN1

Molecular functions related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 APOE APP CST3 MAPT PRNP TTR
2 protease binding GO:0002020 9.61 CST3 LRP1 PRNP
3 chaperone binding GO:0051087 9.58 HSPB6 MAPT PRNP
4 endopeptidase activity GO:0004175 9.54 BACE1 MME PSEN1
5 aspartic-type endopeptidase activity GO:0004190 9.48 BACE1 PSEN1
6 cholesterol transporter activity GO:0017127 9.46 ABCA1 APOE
7 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
8 apolipoprotein binding GO:0034185 9.13 ABCA1 LRP1 MAPT
9 amyloid-beta binding GO:0001540 9.02 APOE BACE1 CST3 ITM2B PRNP
10 protein binding GO:0005515 10.13 ABCA1 APOE APP BACE1 CST3 HSPB6

Sources for Cerebral Amyloid Angiopathy, Cst3-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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