AD18
MCID: ALZ032
MIFTS: 33

Alzheimer Disease 18 (AD18)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alzheimer Disease 18

MalaCards integrated aliases for Alzheimer Disease 18:

Name: Alzheimer Disease 18 57 12 72 29 6 70
Ad18 57 12 72
Alzheimer's Disease 18 12 15
Alzheimer Disease, Susceptibility to, Type 18 39
Alzheimer Disease 18, Susceptibility to 57
Alzheimer's Disease 18, Late Onset 12
Alzheimer Disease 18, Late-Onset 57
Alzheimer Disease 18 Late-Onset 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0110050
OMIM® 57 615590
MeSH 44 D000544
UMLS 70 C3810041

Summaries for Alzheimer Disease 18

UniProtKB/Swiss-Prot : 72 Alzheimer disease 18: A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease 18, also known as ad18, is related to alzheimer disease and coenzyme q10 deficiency, primary, 1. An important gene associated with Alzheimer Disease 18 is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways are Alzheimers Disease and Copper homeostasis. Related phenotypes are growth/size/body region and hematopoietic system

Disease Ontology : 12 An Alzheimer's disease that has material basis in a mutation in the ADAM10 gene on chromosome 15q21.

More information from OMIM: 615590

Related Diseases for Alzheimer Disease 18

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 15
Alzheimer Disease 6 Alzheimer Disease 7
Alzheimer Disease 4 Alzheimer Disease 8
Alzheimer Disease 3 Alzheimer Disease 9
Alzheimer Disease 10 Alzheimer Disease 11
Alzheimer Disease 12 Alzheimer Disease 13
Alzheimer Disease 14 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 28.8 SNCA IAPP APP ADAM10
2 coenzyme q10 deficiency, primary, 1 9.9 SRC SNCA
3 exudative vitreoretinopathy 5 9.9 APP ADAM10
4 cerebral amyloid angiopathy, itm2b-related, 1 9.9 APP ADAM10
5 amyloidosis, familial visceral 9.8 SNCA IAPP
6 choreatic disease 9.8 SNCA CSTB
7 chromosome 17q21.31 duplication syndrome 9.8 SNCA APP
8 arteriolosclerosis 9.8 SNCA APP
9 chronic wasting disease 9.8 SNCA APP
10 communicating hydrocephalus 9.7 SNCA APP
11 kuru 9.7 SNCA APP
12 fatal familial insomnia 9.7 SNCA APP
13 gerstmann-straussler disease 9.7 SNCA APP
14 leukoencephalopathy, hereditary diffuse, with spheroids 9.7 SNCA APP
15 aphasia 9.7 SNCA APP
16 toxic encephalopathy 9.6 SNCA APP
17 supranuclear palsy, progressive, 1 9.6 SNCA APP
18 scrapie 9.6 SNCA APP ADAM10
19 prion disease 9.6 SNCA APP ADAM10
20 cerebral amyloid angiopathy, cst3-related 9.5 SNCA CSTB APP
21 chromosomal duplication syndrome 9.5 SNCA APP
22 amyloidosis, hereditary, transthyretin-related 9.5 SNCA IAPP APP
23 amyloidosis 9.5 SNCA IAPP APP
24 dementia 9.4 SNCA CSTB APP
25 peripheral nervous system disease 9.4 SRC SNCA APP
26 cerebral degeneration 9.4 SNCA APP
27 disease of mental health 8.9 SRC SNCA IAPP APP ADAM10

Graphical network of the top 20 diseases related to Alzheimer Disease 18:



Diseases related to Alzheimer Disease 18

Symptoms & Phenotypes for Alzheimer Disease 18

Clinical features from OMIM®:

615590 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Alzheimer Disease 18:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 ADAM10 APP CSTB IAPP SNCA SRC
2 hematopoietic system MP:0005397 9.63 ADAM10 APP CSTB IAPP SNCA SRC
3 immune system MP:0005387 9.43 ADAM10 APP CSTB IAPP SNCA SRC
4 skeleton MP:0005390 9.1 ADAM10 APP CSTB IAPP SNCA SRC

Drugs & Therapeutics for Alzheimer Disease 18

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease 18

Genetic Tests for Alzheimer Disease 18

Genetic tests related to Alzheimer Disease 18:

# Genetic test Affiliating Genes
1 Alzheimer Disease 18 29 ADAM10

Anatomical Context for Alzheimer Disease 18

Publications for Alzheimer Disease 18

Articles related to Alzheimer Disease 18:

(show all 20)
# Title Authors PMID Year
1
ADAM10 missense mutations potentiate β-amyloid accumulation by impairing prodomain chaperone function. 6 57
24055016 2013
2
Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity. 6 57
19608551 2009
3
Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease. 57
20381196 2012
4
[Euthanasia in patients with dementia]. 61
32749815 2020
5
Burkholderia alba sp. nov., isolated from a soil sample on Halla mountain in Jeju island. 61
29721827 2018
6
Prevalence of Pain in Nursing Home Residents: The Role of Dementia Stage and Dementia Subtypes. 61
28236607 2017
7
Comparison of CSF Distribution between Idiopathic Normal Pressure Hydrocephalus and Alzheimer Disease. 61
26915568 2016
8
Multiple or mixed cerebral microbleeds and dementia in patients with vascular risk factors. 61
25015364 2014
9
[Molecular epidemiology of human adenovirus diarrhea among infants and young children in Lanzhou from July 2005 to June 2008]. 61
20193145 2009
10
Dynamic susceptibility contrast MR imaging of regional cerebral blood volume in Alzheimer disease: a promising alternative to nuclear medicine. 61
9802497 1998
11
Phylogenetic relationships among adenovirus serotypes. 61
7975246 1994
12
Restriction endonuclease patterns of adenovirus type 12 and 18. 61
1331143 1992
13
Growth properties and in vitro life span of Alzheimer disease and Down syndrome fibroblasts. A blind study. 61
2139155 1990
14
Selection of nonfastidious adenovirus species in 293 cells inoculated with stool specimens containing adenovirus 40. 61
2993350 1985
15
Diagnosis of fastidious enteric adenoviruses 40 and 41 in stool specimens. 61
6490823 1984
16
Conserved sequences at the origin of adenovirus DNA replication. 61
7143575 1982
17
Transforming region of group A, B, and C adenoviruses: DNA homology studies with twenty-nine human adenovirus serotypes. 61
448795 1979
18
Relationship of human adenoviruses 12, 18, and 31 as determined by hemagglutination inhibition. 61
78965 1978
19
Immunofluorescence study of the adenovirus type 2 single-stranded DNA binding protein in infected and transformed cells. 61
68127 1977
20
Do highly oncogenic group A human adenoviruses cause human cancer? Analysis of human tumors for adenovirus 12 transforming DNA sequences. 61
1070016 1976

Variations for Alzheimer Disease 18

ClinVar genetic disease variations for Alzheimer Disease 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAM10 NM_001110.4(ADAM10):c.510G>C (p.Gln170His) SNV risk factor 92163 rs61751103 GRCh37: 15:58957371-58957371
GRCh38: 15:58665172-58665172
2 ADAM10 NM_001110.4(ADAM10):c.541A>G (p.Arg181Gly) SNV risk factor 92164 rs145518263 GRCh37: 15:58957340-58957340
GRCh38: 15:58665141-58665141

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 18:

72
# Symbol AA change Variation ID SNP ID
1 ADAM10 p.Gln170His VAR_070908 rs61751103
2 ADAM10 p.Arg181Gly VAR_070909 rs145518263

Expression for Alzheimer Disease 18

Search GEO for disease gene expression data for Alzheimer Disease 18.

Pathways for Alzheimer Disease 18

Pathways related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 SNCA APP ADAM10
2 11.1 APP ADAM10
3 10.83 SRC SNCA
4 10.67 SRC APP
5 10.52 APP ADAM10
6 10.45 SRC APP ADAM10

GO Terms for Alzheimer Disease 18

Cellular components related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.43 SNCA APP ADAM10
2 neuronal cell body GO:0043025 9.33 SNCA IAPP ADAM10
3 rough endoplasmic reticulum GO:0005791 9.32 SNCA APP
4 Golgi-associated vesicle GO:0005798 8.96 APP ADAM10
5 synaptic vesicle GO:0008021 8.8 SNCA APP ADAM10

Biological processes related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.77 SRC APP ADAM10
2 negative regulation of apoptotic process GO:0043066 9.74 SRC SNCA ADAM10
3 integrin-mediated signaling pathway GO:0007229 9.59 SRC ADAM10
4 positive regulation of inflammatory response GO:0050729 9.58 SNCA APP
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.58 SNCA APP
6 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.56 SRC SNCA
7 positive regulation of apoptotic process GO:0043065 9.56 SRC SNCA IAPP ADAM10
8 forebrain development GO:0030900 9.55 SRC APP
9 synapse organization GO:0050808 9.54 SNCA APP
10 positive regulation of protein serine/threonine kinase activity GO:0071902 9.52 SRC SNCA
11 protein destabilization GO:0031648 9.51 SRC SNCA
12 adherens junction organization GO:0034332 9.49 SRC ADAM10
13 negative regulation of protein complex assembly GO:0031333 9.48 SRC IAPP
14 regulation of presynapse assembly GO:1905606 9.46 SNCA APP
15 microglial cell activation GO:0001774 9.43 SNCA APP
16 cellular response to copper ion GO:0071280 9.4 SNCA APP
17 regulation of protein binding GO:0043393 9.37 SRC APP
18 adult locomotory behavior GO:0008344 9.33 SNCA CSTB APP
19 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 SNCA APP
20 cellular protein metabolic process GO:0044267 9.26 SNCA IAPP APP ADAM10
21 response to interleukin-1 GO:0070555 8.8 SRC SNCA APP

Molecular functions related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.43 SRC SNCA APP
2 phosphoprotein binding GO:0051219 9.16 SRC SNCA
3 growth factor receptor binding GO:0070851 8.96 SRC APP
4 signaling receptor binding GO:0005102 8.92 SRC IAPP APP ADAM10

Sources for Alzheimer Disease 18

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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