AMYL6
MCID: CRB172
MIFTS: 64

Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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
Cst3-Related Cerebral Amyloid Angiopathy 12 15
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
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 45639009
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, 1 and cerebral amyloid angiopathy, itm2b-related, 2. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Serotonergic synapse and Neuroscience. 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 0 0 0 0 0 0 0 0 0 0

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 164)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 1 34.6 ITM2B APP
2 cerebral amyloid angiopathy, itm2b-related, 2 34.4 PRNP ITM2B CST3
3 cerebral amyloid angiopathy, app-related 33.2 HSPB8 HSPB6 CST3 APP
4 gerstmann-straussler disease 32.4 PRNP APP
5 hereditary amyloidosis 32.0 TTR GSN
6 cerebral hemorrhage 31.0 CST3 APP
7 hemorrhage, intracerebral 30.7 CST3 APP APOE
8 cerebrovascular disease 30.4 MAPT APP APOE
9 hereditary cerebral amyloid angiopathy 30.4 CST3 APP
10 supranuclear palsy, progressive, 1 30.2 PSEN1 MAPT APP APOE
11 creutzfeldt-jakob disease 30.1 SERPINA3 PRNP MAPT CST3 APOE
12 hydrocephalus, normal-pressure 30.1 MAPT APOE
13 vascular dementia 30.1 MAPT PSEN1 SERPINA3 CST3 APP APOE
14 amyloidosis 30.0 TTR PSEN1 GSN CST3 APP APOE
15 hydrocephalus 29.9 TTR MAPT APP APOE
16 aphasia 29.8 PSEN1 PRNP MAPT APP APOE
17 dementia 29.6 TTR PSEN1 PRNP MAPT ITM2B APP
18 alzheimer disease 29.1 TTR SERPINA3 PSEN1 PRNP MME MAPT
19 aural atresia, congenital 12.0
20 lysinuric protein intolerance 11.4
21 congenital analbuminemia 11.4
22 cerebral cavernous malformation, familial 11.3
23 early invasive cervical adenocarcinoma 11.1
24 farber lipogranulomatosis 11.1
25 encephalopathy 10.5
26 brain injury 10.4
27 primary angiitis of the central nervous system 10.4
28 traumatic brain injury 10.3
29 atrial fibrillation 10.3
30 polyneuropathy 10.3
31 down syndrome 10.2
32 arteriosclerosis 10.2
33 granulomatous angiitis 10.2
34 senile plaque formation 10.2 APP APOE
35 alzheimer's disease 1 10.2 APP APOE
36 genetic prion diseases 10.2 PRNP APOE
37 early-onset, autosomal dominant alzheimer disease 10.2 PSEN1 APP
38 schizophrenia 10.2
39 alzheimer disease 4 10.2 PSEN1 APOE
40 alexia 10.2 PSEN1 APOE
41 adenocarcinoma 10.2
42 huntington disease-like 1 10.2 PRNP APOE
43 simultanagnosia 10.2 MAPT APOE
44 posterior cortical atrophy 10.2 MAPT APOE
45 temporal arteritis 10.2
46 hemosiderosis 10.2
47 subcortical arteriosclerotic encephalopathy 10.2
48 autosomal dominant cerebellar ataxia 10.2
49 akinetic mutism 10.1 PRNP MAPT
50 progressive non-fluent aphasia 10.1 PSEN1 MAPT

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
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.14 APOE APP CST3 GSN HSPB8 LRP1
2 cardiovascular system MP:0005385 10.09 APOE APP CST3 GSN HSPB8 LRP1
3 immune system MP:0005387 10.02 APOE APP GSN HSPB8 LRP1 MAPT
4 integument MP:0010771 9.92 APOE APP GSN LRP1 MAPT MME
5 muscle MP:0005369 9.86 APOE APP CST3 HSPB8 LRP1 MAPT
6 nervous system MP:0003631 9.81 APOE APP CST3 GSN ITM2B LRP1
7 no phenotypic analysis MP:0003012 9.43 APOE APP ITM2B MAPT PRNP TTR
8 reproductive system MP:0005389 9.17 APOE APP CST3 GSN LRP1 PRNP

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Cst3-Related

Search Clinical Trials , 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, B Cells, Bone

Publications for Cerebral Amyloid Angiopathy, Cst3-Related

Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:

(show top 50) (show all 855)
# 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
Clinical pathologic case report: A 70-year-old man with inflammatory cerebral amyloid angiopathy causing headache, cognitive impairment, and aphasia. ( 29248380 )
2018
6
The Clinical Dilemma of Anticoagulation Use in Patients with Cerebral Amyloid Angiopathy and Atrial Fibrillation. ( 30209626 )
2018
7
Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer's Disease. ( 30452414 )
2018
8
Amyloid-PET burden and regional distribution in cerebral amyloid angiopathy: a systematic review and meta-analysis of biomarker performance. ( 29070646 )
2018
9
Sporadic Cerebral Amyloid Angiopathy With Cortical Occipital Calcifications in the Elderly. ( 29077577 )
2018
10
The growing clinical spectrum of cerebral amyloid angiopathy. ( 29120920 )
2018
11
Cerebral amyloid angiopathy, cerebral microbleeds and implications for anticoagulation decisions: The need for a balanced approach. ( 29125055 )
2018
12
Cerebral amyloid angiopathy associated with inflammation: A systematic review of clinical and imaging features and outcome. ( 29134927 )
2018
13
Acute diffusion-weighted imaging lesions in cerebral amyloid angiopathy-related convexal subarachnoid hemorrhage. ( 29168672 )
2018
14
Patterns of convexal subarachnoid haemorrhage: clinical, radiological and outcome differences between cerebral amyloid angiopathy and other causes. ( 29204961 )
2018
15
Cognitive Impairment Before Intracerebral Hemorrhage Is Associated With Cerebral Amyloid Angiopathy. ( 29247143 )
2018
16
Cerebral amyloid angiopathy - The modified Boston criteria in clinical practice. ( 29249378 )
2018
17
Cerebrospinal Fluid, MRI, and Florbetaben-PET in Cerebral Amyloid Angiopathy-Related Inflammation. ( 29254099 )
2018
18
Cerebral amyloid angiopathy-related inflammation - A case report presenting diagnostic difficulties. ( 29331207 )
2018
19
The Edinburgh CT and genetic diagnostic criteria for lobar intracerebral haemorrhage associated with cerebral amyloid angiopathy: model development and diagnostic test accuracy study. ( 29331631 )
2018
20
Diagnosis of Cerebral Amyloid Angiopathy: Evolution of the Boston Criteria. ( 29335334 )
2018
21
Pathological examination of cerebral amyloid angiopathy in patients who underwent removal of lobar hemorrhages. ( 29356971 )
2018
22
Core cerebrospinal fluid biomarker profile in cerebral amyloid angiopathy: A meta-analysis. ( 29386280 )
2018
23
Reversible sub-acute cognitive deterioration in cerebral amyloid angiopathy: A case report. ( 29406906 )
2018
24
Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery. ( 29450646 )
2018
25
Potential link between sporadic cerebral amyloid angiopathy and vision loss: a case report. ( 29461679 )
2018
26
Neurodegenerative disease biomarkers Aβ1-40, Aβ1-42, tau, and p-tau181 in the vervet monkey cerebrospinal fluid: Relation to normal aging, genetic influences, and cerebral amyloid angiopathy. ( 29484263 )
2018
27
The fine anatomy of the perivascular compartment in the human brain: relevance to dilated perivascular spaces in cerebral amyloid angiopathy. ( 29486067 )
2018
28
Intravenous injection of beta-amyloid seeds promotes cerebral amyloid angiopathy (CAA). ( 29506560 )
2018
29
Fatal Aβ cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years. ( 29508058 )
2018
30
Minimally symptomatic cerebral amyloid angiopathy-related inflammation: three descriptive case reports. ( 29535144 )
2018
31
Primary Intracerebral Hemorrhage: A Closer Look at Hypertension and Cerebral Amyloid Angiopathy. ( 29556933 )
2018
32
Author Correction: Distinctive Clinical Effects of Haemorrhagic Markers in Cerebral Amyloid Angiopathy. ( 29563584 )
2018
33
Capillary cerebral amyloid angiopathy in Alzheimer's disease: association with allocortical/hippocampal microinfarcts and cognitive decline. ( 29574591 )
2018
34
Cerebral amyloid angiopathy: Review of clinico-radiological features and mimics. ( 29604173 )
2018
35
Cerebral Amyloid Angiopathy: Similarity in African-Americans and Caucasians with Alzheimer's Disease. ( 29614657 )
2018
36
Memory deficiency, cerebral amyloid angiopathy, and amyloid-β plaques in APP+PS1 double transgenic rat model of Alzheimer's disease. ( 29641600 )
2018
37
Letter by Cao et al Regarding Article, "Cognitive Impairment Before Intracerebral Hemorrhage Is Associated With Cerebral Amyloid Angiopathy". ( 29669877 )
2018
38
Response by Banerjee et al to Letter Regarding Article, "Cognitive Impairment Before Intracerebral Hemorrhage Is Associated With Cerebral Amyloid Angiopathy". ( 29669878 )
2018
39
White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer's disease. ( 29742105 )
2018
40
Cerebral amyloid angiopathy mimicking central nervous system metastases: a case report. ( 29754590 )
2018
41
Cerebral amyloid angiopathy: diagnosis and potential therapies. ( 29792540 )
2018
42
Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease. ( 29860944 )
2018
43
Infratentorial Cerebral Microbleeds in Patients with Cerebral Amyloid Angiopathy. ( 29861129 )
2018
44
Immunohistochemical analysis of intrasulcal hematoma due to cerebral amyloid angiopathy in a brain-dead patient. ( 29876971 )
2018
45
Cerebral amyloid angiopathy-related inflammation with epilepsy mimicking a presentation of brain tumor: A case report and review of the literature. ( 29883923 )
2018
46
Cerebral Amyloid Angiopathy: A Different Kind of Stroke. ( 29894445 )
2018
47
Pathologically Confirmed Cerebral Amyloid Angiopathy with No Radiological Sign in a Patient with Early Onset Alzheimer's Disease. ( 29978619 )
2018
48
Cerebral Amyloid Angiopathy: A Different Kind of Stroke. ( 29985280 )
2018
49
Cortical Microinfarcts on 3T Magnetic Resonance Imaging in Cerebral Amyloid Angiopathy. ( 29986931 )
2018
50
The effects of cerebral amyloid angiopathy on integrity of the blood-brain barrier. ( 30007166 )
2018

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 GRCh38 Chromosome 20, 23635330: 23635330
2 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, 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

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

# Super pathways Score Top Affiliating Genes
1 12.03 APOE APP CST3 LRP1 MAPT PRNP
2 11.55 APOE APP MAPT
3 11.26 APOE APP MAPT
4 11.23 APP MAPT PRNP
5 11.06 APOE APP LRP1 MME
6 10.85 APP PRNP
7 10.82 APP CST3 MME PSEN1
8 10.67 APOE APP LRP1 MAPT PSEN1

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 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.95 APOE APP CST3 GSN ITM2B SERPINA3
2 extracellular region GO:0005576 9.81 APOE APP CST3 GSN HSPB6 ITM2B
3 neuronal cell body GO:0043025 9.8 APOE LRP1 MAPT PSEN1
4 axon GO:0030424 9.73 APP MAPT MME PSEN1
5 blood microparticle GO:0072562 9.69 APOE GSN SERPINA3
6 growth cone GO:0030426 9.65 APP MAPT PSEN1
7 extracellular exosome GO:0070062 9.61 APOE APP CST3 GSN ITM2B MME
8 membrane raft GO:0045121 9.56 APP MAPT PRNP PSEN1
9 smooth endoplasmic reticulum GO:0005790 9.52 APP PSEN1
10 ciliary rootlet GO:0035253 9.37 APP PSEN1
11 main axon GO:0044304 9.32 APP MAPT
12 dendrite GO:0030425 9.1 APOE LRP1 MAPT MME PRNP PSEN1
13 cytoplasm GO:0005737 10.2 APOE APP GSN HSPB6 HSPB8 LRP1

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.95 CST3 GSN MME PSEN1 SERPINA3 TTR
2 negative regulation of endopeptidase activity GO:0010951 9.83 APP CST3 SERPINA3
3 negative regulation of neuron apoptotic process GO:0043524 9.82 APOE LRP1 PSEN1
4 negative regulation of peptidase activity GO:0010466 9.81 APP CST3 SERPINA3
5 response to oxidative stress GO:0006979 9.81 APOE APP PRNP PSEN1
6 positive regulation of protein binding GO:0032092 9.76 APP LRP1 PSEN1
7 learning or memory GO:0007611 9.74 APP PRNP PSEN1
8 retinoid metabolic process GO:0001523 9.73 APOE LRP1 TTR
9 synapse organization GO:0050808 9.7 APP MAPT PSEN1
10 long-term memory GO:0007616 9.68 APOE PRNP
11 positive regulation of phosphorylation GO:0042327 9.68 APP PSEN1
12 cellular response to copper ion GO:0071280 9.67 APP PRNP
13 positive regulation of endocytosis GO:0045807 9.67 APOE LRP1
14 lipoprotein metabolic process GO:0042157 9.67 APOE LRP1
15 positive regulation of dendritic spine development GO:0060999 9.66 APOE PSEN1
16 regulation of protein binding GO:0043393 9.66 APP PSEN1
17 response to lead ion GO:0010288 9.65 APP MAPT
18 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.64 APP PRNP
19 positive regulation of cholesterol efflux GO:0010875 9.63 APOE LRP1
20 amyloid-beta metabolic process GO:0050435 9.63 MME PSEN1
21 astrocyte activation GO:0048143 9.63 APP MAPT PSEN1
22 cellular copper ion homeostasis GO:0006878 9.62 APP PRNP
23 supramolecular fiber organization GO:0097435 9.62 CST3 MAPT
24 amyloid-beta clearance GO:0097242 9.61 LRP1 MME
25 regulation of protein metabolic process GO:0051246 9.61 APOE LRP1
26 negative regulation of long-term synaptic potentiation GO:1900272 9.61 APOE APP PRNP
27 amyloid precursor protein metabolic process GO:0042982 9.6 APOE PSEN1
28 negative regulation of amyloid-beta formation GO:1902430 9.59 APOE PRNP
29 regulation of cholesterol transport GO:0032374 9.58 APOE LRP1
30 neuron projection maintenance GO:1990535 9.58 APP PRNP PSEN1
31 cellular response to amyloid-beta GO:1904646 9.56 APP LRP1 PRNP PSEN1
32 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.55 APP PSEN1
33 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.54 APP PSEN1
34 amyloid fibril formation GO:1990000 9.54 APP GSN MAPT
35 modulation of age-related behavioral decline GO:0090647 9.5 APP PRNP PSEN1
36 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.49 APP PSEN1
37 positive regulation of amyloid fibril formation GO:1905908 9.33 APOE APP PSEN1
38 cellular protein metabolic process GO:0044267 9.17 APOE APP CST3 GSN ITM2B PSEN1
39 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 peptidase inhibitor activity GO:0030414 9.61 APP CST3 SERPINA3
2 chaperone binding GO:0051087 9.54 HSPB6 MAPT PRNP
3 protease binding GO:0002020 9.5 CST3 LRP1 PRNP
4 identical protein binding GO:0042802 9.5 APOE APP CST3 HSPB8 MAPT PRNP
5 apolipoprotein binding GO:0034185 9.4 LRP1 MAPT
6 lipoprotein particle binding GO:0071813 9.26 APOE MAPT
7 amyloid-beta binding GO:0001540 8.92 APOE CST3 ITM2B PRNP
8 protein binding GO:0005515 10 APOE APP CST3 GSN HSPB6 HSPB8

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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