AD18
MCID: ALZ032
MIFTS: 18

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 58 12 76 30 6 74
Ad18 58 12 76
Alzheimer Disease, Susceptibility to, Type 18 41
Alzheimer Disease 18, Susceptibility to 58
Alzheimer Disease 18, Late-Onset 58
Alzheimer Disease 18 Late-Onset 76
Alzheimer's Disease 18 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110050
OMIM 58 615590
MeSH 45 D000544
UMLS 74 C3810041

Summaries for Alzheimer Disease 18

UniProtKB/Swiss-Prot : 76 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 vascular disease. An important gene associated with Alzheimer Disease 18 is ADAM10 (ADAM Metallopeptidase Domain 10).

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

Description from OMIM: 615590

Related Diseases for Alzheimer Disease 18

Symptoms & Phenotypes for Alzheimer Disease 18

Clinical features from OMIM:

615590

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 30 ADAM10

Anatomical Context for Alzheimer Disease 18

Publications for Alzheimer Disease 18

Articles related to Alzheimer Disease 18:

# Title Authors Year
1
ADAM10 missense mutations potentiate β-amyloid accumulation by impairing prodomain chaperone function. ( 24055016 )
2013
2
Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity. ( 19608551 )
2009

Variations for Alzheimer Disease 18

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

76
# Symbol AA change Variation ID SNP ID
1 ADAM10 p.Gln170His VAR_070908 rs61751103
2 ADAM10 p.Arg181Gly VAR_070909 rs145518263

ClinVar genetic disease variations for Alzheimer Disease 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAM10 NM_001110.3(ADAM10): c.510G> C (p.Gln170His) single nucleotide variant risk factor GRCh37 Chromosome 15, 58957371: 58957371
2 ADAM10 NM_001110.3(ADAM10): c.510G> C (p.Gln170His) single nucleotide variant risk factor GRCh38 Chromosome 15, 58665172: 58665172
3 ADAM10 NM_001110.3(ADAM10): c.541A> G (p.Arg181Gly) single nucleotide variant risk factor rs145518263 GRCh37 Chromosome 15, 58957340: 58957340
4 ADAM10 NM_001110.3(ADAM10): c.541A> G (p.Arg181Gly) single nucleotide variant risk factor rs145518263 GRCh38 Chromosome 15, 58665141: 58665141

Expression for Alzheimer Disease 18

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

Pathways for Alzheimer Disease 18

GO Terms for Alzheimer Disease 18

Sources for Alzheimer Disease 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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