CAA-APP
MCID: CRB193
MIFTS: 55

Cerebral Amyloid Angiopathy, App-Related (CAA-APP)

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, App-Related

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

Name: Cerebral Amyloid Angiopathy, App-Related 57 72 29 6 39
Hchwad 57 12 72
Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 57 13
Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant 57 12
Cerebral Amyloid Angiopathy, App-Related, Italian Variant 57 12
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant 57 12
Cerebral Amyloid Angiopathy, App-Related, Arctic Variant 57 12
Cerebral Amyloid Angiopathy, App-Related, Dutch Variant 57 12
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant 57 12
Amyloidosis, Cerebroarterial, App-Related 57 12
App-Related Cerebral Amyloid Angiopathy 12 15
Abeta Amyloidosis, Italian Type 58 6
Abeta Amyloidosis, Arctic Type 58 6
Abeta Amyloidosis, Dutch Type 58 6
Abeta Amyloidosis, Iowa Type 58 6
Abetaa21g Amyloidosis 58 6
Hchwa-D 58 72
Familial Occipital Calcifications with Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia 72
Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; Hchwad 57
Hereditary Cerebral Hemorrhage with Amyloidosis, Piedmont Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis, Flemish Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis, Italian Type 58
Amyloidosis Hereditary with Cerebral Hemorrhage Dutch Variant 72
Hereditary Cerebral Hemorrhage with Amyloidosis, Arctic Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis Italian Type 72
Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type 70
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis, Iowa Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis Dutch Type 72
Cerebral Amyloid Angiopathy App-Related Flemish Variant 72
Cerebral Amyloid Angiopathy App-Related Italian Variant 72
Cerebral Amyloid Angiopathy App-Related Arctic Variant 72
Cerebral Amyloid Angiopathy App-Related Dutch Variant 72
Cerebral Amyloid Angiopathy App-Related Iowa Variant 72
Hereditary Cerebral Amyloid Angiopathy Dutch Type 72
Amyloidosis Cerebroarterial App-Related 72
Abeta Amyloidosis, Piedmont Type 58
Abeta Amyloidosis, Flemish Type 58
Abetaa21g-Related Amyloidosis 58
Abetal34v-Related Amyloidosis 58
Abetae22k Amyloidosis 58
Abetae22g Amyloidosis 58
Abetad23n Amyloidosis 58
Abetal34v Amyloidosis 58
Abetae22q Amyloidosis 58
Hchwa, Piedmont Type 58
Hchwa, Flemish Type 58
Hchwa, Italian Type 58
Hchwa, Arctic Type 58
Hchwa, Dutch Type 58
Hchwa, Iowa Type 58
Fochs-Ladd 72
Caa-App 72

Characteristics:

Orphanet epidemiological data:

58
abetaa21g amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;
abeta amyloidosis, italian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: adult,elderly;
abeta amyloidosis, arctic type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly;
abeta amyloidosis, iowa type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Elderly; Age of death: elderly;
abetal34v amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: elderly;
abeta amyloidosis, dutch type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in middle age (44 to 60 years)
allelic to early-onset familial alzheimer disease (ad1, )


HPO:

31
cerebral amyloid angiopathy, app-related:
Onset and clinical course death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


Summaries for Cerebral Amyloid Angiopathy, App-Related

UniProtKB/Swiss-Prot : 72 Cerebral amyloid angiopathy, APP-related: A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications.

MalaCards based summary : Cerebral Amyloid Angiopathy, App-Related, also known as hchwad, is related to hemorrhage, intracerebral and hereditary cerebral amyloid angiopathy. An important gene associated with Cerebral Amyloid Angiopathy, App-Related is APP (Amyloid Beta Precursor Protein), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. Affiliated tissues include brain, cerebellum and heart, and related phenotypes are intellectual disability and gait disturbance

Disease Ontology : 12 A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.

OMIM® : 57 Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which 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. APP-related CAA is the most common form of CAA (25,26:Revesz et al., 2003, 2009). (605714) (Updated 20-May-2021)

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 hemorrhage, intracerebral 31.3 CST3 APP APOE
2 hereditary cerebral amyloid angiopathy 31.0 CST3 APP
3 down syndrome 29.9 SERPINA3 PSEN1 BACE2 APP APOE
4 amyloidosis 29.5 SERPINA3 PSEN1 ITM2B GSN CST3 APP
5 dementia 28.3 SERPINA3 PSEN2 PSEN1 LRP1 ITM2B IDE
6 alzheimer disease 28.2 SERPINA3 PSEN2 PSEN1 LRP1 ITM2B IDE
7 cerebral amyloid angiopathy, cst3-related 28.0 SERPINA3 PSEN2 PSEN1 LRP1 ITM2B IDE
8 residual stage of open angle glaucoma 10.3 APP APOE
9 senile plaque formation 10.3 APP APOE
10 hemorrhagic disease 10.2
11 blepharochalasis 10.2 SERPINA3 GSN
12 alzheimer's disease 1 10.2 APP APOE
13 anosognosia 10.2 PSEN1 APOE
14 nominal aphasia 10.2 PSEN1 APOE
15 binswanger's disease 10.2 APP APOE
16 semantic dementia 10.2 PSEN1 APOE
17 chronic wasting disease 10.2 SERPINA3 APP
18 heart cancer 10.2 SERPINA3 APOE
19 arteriolosclerosis 10.1 SERPINA3 APP APOE
20 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1 SERPINA3 APP APOE
21 ideomotor apraxia 10.1 PSEN2 APOE
22 amnestic disorder 10.1 PSEN1 APP APOE
23 inclusion body myositis 10.1 SERPINA3 APP APOE
24 cerebral amyloid angiopathy, itm2b-related, 2 10.1 SERPINA3 ITM2B APP
25 cerebral atherosclerosis 10.1 SERPINA3 APOE
26 alexia 10.1 PSEN2 APOE
27 scrapie 10.1 SERPINA3 APP APOE
28 cerebral degeneration 10.1 SERPINA3 APP APOE
29 gerstmann syndrome 10.1 PSEN2 PSEN1 APOE
30 gerstmann-straussler disease 10.1 PSEN2 PSEN1 APP
31 simultanagnosia 10.1 PSEN2 PSEN1 APOE
32 visual agnosia 10.1 PSEN2 PSEN1 APOE
33 alzheimer disease 4 10.0 PSEN2 PSEN1 APOE
34 vascular hyalinosis 10.0
35 retinal microaneurysm 10.0
36 granulomatous angiitis 10.0
37 amyloidosis, hereditary, transthyretin-related 10.0 GSN APP APCS
38 communicating hydrocephalus 10.0 SERPINA3 PSEN1 APP APOE
39 hydrocephalus 10.0 SERPINA3 PSEN1 APP APOE
40 myositis 10.0 SERPINA3 BACE2 APP
41 normal pressure hydrocephalus 10.0 SERPINA3 PSEN1 APP APOE
42 toxic encephalopathy 10.0 SERPINA3 PSEN1 APP APOE
43 movement disease 10.0 SERPINA3 PSEN1 APP APOE
44 progressive relapsing multiple sclerosis 10.0 SERPINA3 APCS
45 creutzfeldt-jakob disease 10.0 SERPINA3 CST3 APP APOE
46 central nervous system disease 10.0 SERPINA3 PSEN1 APP APOE
47 nervous system disease 9.9 SERPINA3 PSEN1 APP APOE
48 amyloidosis, familial visceral 9.9 GSN APOE APCS
49 early-onset, autosomal dominant alzheimer disease 9.9 PSEN2 PSEN1 APP APOE
50 alzheimer disease 3 9.9 PSEN2 PSEN1 APP APOE

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



Diseases related to Cerebral Amyloid Angiopathy, App-Related

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, App-Related

Human phenotypes related to Cerebral Amyloid Angiopathy, App-Related:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0000708
6 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
7 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
8 stroke 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001297
9 migraine 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002076
10 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
11 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
12 cerebral hemorrhage 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001342
13 coma 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001259
14 sensory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0003474
15 dementia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000726
16 febrile seizure (within the age range of 3 months to 6 years) 31 hallmark (90%) HP:0002373
17 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
18 cerebral amyloid angiopathy 58 31 frequent (33%) Frequent (79-30%) HP:0011970
19 seizure 31 frequent (33%) HP:0001250
20 seizures 58 Frequent (79-30%),Frequent (79-30%)
21 cerebral ischemia 31 HP:0002637
22 death in early adulthood 58 Occasional (29-5%)
23 abnormality of the cerebral vasculature 58 Frequent (79-30%),Very frequent (99-80%)
24 mental deterioration 58 Very frequent (99-80%),Frequent (79-30%)
25 febrile seizures 58 Very frequent (99-80%)
26 recurrent cerebral hemorrhage 31 HP:0004968
27 cerebellar hemorrhage 31 HP:0011695
28 tortuous cerebral arteries 31 HP:0004938

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
cerebral ischemia
cerebral amyloid angiopathy
tortuous cerebral arteries
cerebral artery amyloidosis (amyloid deposition in cerebral arteries)
recurrent strokes
more
Neurologic Central Nervous System:
dementia, progressive, with onset of disease

Clinical features from OMIM®:

605714 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 APOE APP CST3 GSN IDE LRP1
2 cellular MP:0005384 9.91 APOE APP BACE2 CST3 GSN IDE
3 homeostasis/metabolism MP:0005376 9.85 APCS APOE APP CST3 GSN IDE
4 integument MP:0010771 9.56 APOE APP BACE2 GSN IDE PSEN1
5 nervous system MP:0003631 9.32 APOE APP BACE2 CST3 GSN IDE

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, App-Related

Search Clinical Trials , NIH Clinical Center for Cerebral Amyloid Angiopathy, App-Related

Genetic Tests for Cerebral Amyloid Angiopathy, App-Related

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

# Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy, App-Related 29 APP

Anatomical Context for Cerebral Amyloid Angiopathy, App-Related

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

40
Brain, Cerebellum, Heart, Thalamus, Smooth Muscle, Endothelial

Publications for Cerebral Amyloid Angiopathy, App-Related

Articles related to Cerebral Amyloid Angiopathy, App-Related:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. 6 57
20697050 2010
2
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. 6 57
16369530 2006
3
Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. 57 6
12654973 2003
4
Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. 6 57
11409420 2001
5
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 6 57
2111584 1990
6
Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis. 61 57
15311281 2004
7
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 61 6
9754958 1998
8
Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage. 61 57
1763898 1991
9
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type) 61 6
1679289 1991
10
Expression of a normal and variant Alzheimer's beta-protein gene in amyloid of hereditary cerebral hemorrhage, Dutch type: DNA and protein diagnostic assays. 61 57
2196878 1990
11
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). 57 61
1971458 1990
12
Large APP locus duplication in a sporadic case of cerebral haemorrhage. 6
24691562 2014
13
Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy. 57
19743453 2009
14
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. 57
19225789 2009
15
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. 6
18413473 2008
16
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. 6
16921174 2006
17
Mechanism of cerebral beta-amyloid angiopathy: murine and cellular models. 57
16612981 2006
18
A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. 57
16178030 2005
19
Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type. 57
15824369 2005
20
Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation. 6
15502844 2004
21
Amyloid beta peptide 1-42 highly correlates with capillary cerebral amyloid angiopathy and Alzheimer disease pathology. 57
14986026 2004
22
Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. 57
14533778 2003
23
Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles. 57
11761474 2001
24
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 6
11528419 2001
25
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. 6
11311152 2001
26
Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia. 57
11113220 2000
27
Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. 6
10821838 2000
28
Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage. 57
10648765 2000
29
Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion. 6
9848098 1998
30
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. 57
9748011 1998
31
Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy. 57
9566379 1998
32
High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy. 57
9189032 1997
33
High frequency of apolipoprotein E epsilon 2 in patients with cerebral hemorrhage due to cerebral amyloid angiopathy. 57
8619557 1996
34
Lack of an association between apolipoprotein E epsilon 4 and cerebral amyloid angiopathy in elderly Japanese. 57
8619558 1996
35
Apolipoprotein E epsilon 4 and cerebral hemorrhage associated with amyloid angiopathy. 57
7654074 1995
36
A molecular genetic study of intracerebral hemorrhage. 57
7945009 1994
37
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 6
1303239 1992
38
Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type. 57
2396937 1990
39
Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy. 57
3210024 1988
40
Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. 57
3475718 1987
41
Hereditary cerebral hemorrhage. 57
3726447 1986
42
Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report. 57
4056911 1985
43
Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report. 57
4056910 1985
44
Leukoencephalopathy in diffuse hemorrhagic cerebral amyloid angiopathy. 57
4037751 1985
45
Cerebral amyloid angiopathy. 57
3990962 1985
46
Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage. 57
7131028 1982
47
Congophilic angiopathy complicated by surgery and massive hemorrhage. A light and electron microscopic study. 57
1190293 1975
48
Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer's disease and not in other tauopathies. 61
31796108 2019
49
Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy. 61
30868685 2019
50
Early Aβ reduction prevents progression of cerebral amyloid angiopathy. 61
31359452 2019

Variations for Cerebral Amyloid Angiopathy, App-Related

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APP NM_000484.4(APP):c.2077G>C (p.Glu693Gln) SNV Pathogenic 18087 rs63750579 GRCh37: 21:27264168-27264168
GRCh38: 21:25891856-25891856
2 APP NM_000484.4(APP):c.2077G>A (p.Glu693Lys) SNV Pathogenic 18099 rs63750579 GRCh37: 21:27264168-27264168
GRCh38: 21:25891856-25891856
3 APP NM_000484.4(APP):c.2075C>G (p.Ala692Gly) SNV Pathogenic 18091 rs63750671 GRCh37: 21:27264170-27264170
GRCh38: 21:25891858-25891858
4 APP NM_000484.4(APP):c.2078A>G (p.Glu693Gly) SNV Pathogenic 18098 rs63751039 GRCh37: 21:27264167-27264167
GRCh38: 21:25891855-25891855
5 APP NM_000484.4(APP):c.2080G>A (p.Asp694Asn) SNV Pathogenic 18101 rs63749810 GRCh37: 21:27264165-27264165
GRCh38: 21:25891853-25891853
6 overlap with 25 genes NC_000021.7:g.13636378_28138533dup Duplication Pathogenic 127268 GRCh37: 21:14714507-29216662
GRCh38:
7 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser) SNV Likely pathogenic 638317 rs201269325 GRCh37: 21:27264120-27264120
GRCh38: 21:25891808-25891808
8 APP NM_001136131.3(APP):c.-49+166G>A SNV Uncertain significance 339658 rs761755102 GRCh37: 21:27543137-27543137
GRCh38: 21:26170819-26170819
9 APP NM_000484.4(APP):c.704C>T (p.Ala235Val) SNV Uncertain significance 898004 GRCh37: 21:27394317-27394317
GRCh38: 21:26022001-26022001

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

72
# Symbol AA change Variation ID SNP ID
1 APP p.Glu693Gln VAR_000017 rs63750579
2 APP p.Glu693Lys VAR_014216 rs63750579
3 APP p.Asp694Asn VAR_014217 rs63749810
4 APP p.Leu705Val VAR_032276 rs63750921

Expression for Cerebral Amyloid Angiopathy, App-Related

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

Pathways for Cerebral Amyloid Angiopathy, App-Related

GO Terms for Cerebral Amyloid Angiopathy, App-Related

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.21 PSEN2 PSEN1 LRP1 ITM2B IDE GSN
2 extracellular region GO:0005576 10.03 SERPINA3 ITM2B IDE GSN CST3 APP
3 extracellular exosome GO:0070062 9.97 SERPINA3 ITM2B IDE GSN CST3 APP
4 extracellular space GO:0005615 9.92 SERPINA3 ITM2B IDE GSN CST3 APP
5 endosome GO:0005768 9.89 PSEN1 LRP1 ITM2B BACE2 APP
6 neuronal cell body GO:0043025 9.83 PSEN2 PSEN1 LRP1 APOE
7 early endosome GO:0005769 9.78 PSEN1 LRP1 APP APOE
8 growth cone GO:0030426 9.71 PSEN2 PSEN1 APP
9 neuromuscular junction GO:0031594 9.63 PSEN2 PSEN1 APP
10 Golgi apparatus GO:0005794 9.56 PSEN2 PSEN1 LRP1 ITM2B CST3 BACE2
11 smooth endoplasmic reticulum GO:0005790 9.55 PSEN1 APP
12 blood microparticle GO:0072562 9.46 SERPINA3 GSN APOE APCS
13 dendritic shaft GO:0043198 9.43 PSEN2 PSEN1 APP
14 gamma-secretase complex GO:0070765 9.4 PSEN2 PSEN1
15 ciliary rootlet GO:0035253 8.8 PSEN2 PSEN1 APP

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.98 SERPINA3 PSEN1 GSN CST3
2 negative regulation of endopeptidase activity GO:0010951 9.83 SERPINA3 CST3 APP
3 negative regulation of neuron apoptotic process GO:0043524 9.81 PSEN1 LRP1 APOE
4 response to oxidative stress GO:0006979 9.8 PSEN1 APP APOE
5 negative regulation of peptidase activity GO:0010466 9.8 SERPINA3 CST3 APP
6 Notch signaling pathway GO:0007219 9.79 PSEN2 PSEN1 APP
7 positive regulation of catalytic activity GO:0043085 9.68 PSEN2 PSEN1
8 positive regulation of phosphorylation GO:0042327 9.68 PSEN1 APP
9 negative regulation of proteolysis GO:0045861 9.68 IDE CST3
10 regulation of protein binding GO:0043393 9.67 PSEN1 APP
11 positive regulation of dendritic spine development GO:0060999 9.67 PSEN1 APOE
12 positive regulation of glycolytic process GO:0045821 9.67 PSEN1 APP
13 lipoprotein metabolic process GO:0042157 9.66 LRP1 APOE
14 positive regulation of endocytosis GO:0045807 9.66 LRP1 APOE
15 negative regulation of amyloid precursor protein biosynthetic process GO:0042985 9.65 ITM2B BACE2
16 membrane protein intracellular domain proteolysis GO:0031293 9.65 PSEN2 PSEN1
17 positive regulation of cholesterol efflux GO:0010875 9.64 LRP1 APOE
18 negative regulation of viral entry into host cell GO:0046597 9.64 GSN APCS
19 cellular response to amyloid-beta GO:1904646 9.63 PSEN1 LRP1 APP
20 positive regulation of protein binding GO:0032092 9.62 PSEN1 LRP1 IDE APP
21 amyloid-beta clearance GO:0097242 9.61 LRP1 IDE
22 amyloid precursor protein catabolic process GO:0042987 9.61 PSEN2 PSEN1
23 negative regulation of long-term synaptic potentiation GO:1900272 9.6 APP APOE
24 amyloid fibril formation GO:1990000 9.59 GSN APP
25 amyloid precursor protein metabolic process GO:0042982 9.58 PSEN1 APOE
26 neuron projection maintenance GO:1990535 9.58 PSEN1 APP
27 membrane protein ectodomain proteolysis GO:0006509 9.58 PSEN2 PSEN1 BACE2
28 amyloid-beta formation GO:0034205 9.57 PSEN2 PSEN1
29 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.56 PSEN1 APP
30 modulation of age-related behavioral decline GO:0090647 9.55 PSEN1 APP
31 Notch receptor processing GO:0007220 9.54 PSEN2 PSEN1
32 astrocyte activation GO:0048143 9.54 PSEN1 BACE2 APP
33 positive regulation of amyloid-beta clearance GO:1900223 9.52 LRP1 APOE
34 amyloid-beta clearance by cellular catabolic process GO:0150094 9.51 LRP1 IDE
35 Notch receptor processing, ligand-dependent GO:0035333 9.49 PSEN2 PSEN1
36 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.48 PSEN1 APP
37 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.43 PSEN1 APP
38 positive regulation of amyloid fibril formation GO:1905908 9.43 PSEN1 APP APOE
39 astrocyte activation involved in immune response GO:0002265 9.33 PSEN1 LRP1 APP
40 amyloid-beta metabolic process GO:0050435 9.26 PSEN2 PSEN1 IDE BACE2
41 cellular protein metabolic process GO:0044267 9.17 PSEN1 ITM2B GSN CST3 APP APOE

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.73 PSEN2 PSEN1 IDE BACE2
2 peptidase inhibitor activity GO:0030414 9.54 SERPINA3 CST3 APP
3 endopeptidase activity GO:0004175 9.5 PSEN2 PSEN1 IDE
4 heparan sulfate proteoglycan binding GO:0043395 9.4 LRP1 APOE
5 growth factor receptor binding GO:0070851 9.26 PSEN1 APP
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.16 PSEN2 PSEN1
7 aspartic-type endopeptidase activity GO:0004190 9.13 PSEN2 PSEN1 BACE2
8 amyloid-beta binding GO:0001540 9.02 LRP1 ITM2B IDE CST3 APOE

Sources for Cerebral Amyloid Angiopathy, App-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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