MCID: ALZ032
MIFTS: 16

Alzheimer Disease 18

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

Aliases & Classifications for Alzheimer Disease 18

MalaCards integrated aliases for Alzheimer Disease 18:

Name: Alzheimer Disease 18 53 12 71 28 69
Ad18 53 12 71
Alzheimer Disease 18, Susceptibility to 53
Alzheimer Disease 18, Late-Onset 53
Alzheimer Disease 18 Late-Onset 71
Alzheimer's Disease 18 12

Classifications:



External Ids:

OMIM 53 615590
Disease Ontology 12 DOID:0110050
MeSH 41 D000544
UMLS 69 C3810041

Summaries for Alzheimer Disease 18

UniProtKB/Swiss-Prot : 71 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, is also known as ad18. 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 28 ADAM10

Anatomical Context for Alzheimer Disease 18

Publications for Alzheimer Disease 18

Variations for Alzheimer Disease 18

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

71
# 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 ADAM10, GLN170HIS undetermined variant risk factor
2 ADAM10 NM_001110.3(ADAM10): c.541A> G (p.Arg181Gly) single nucleotide variant risk factor rs145518263 GRCh37 Chromosome 15, 58957340: 58957340

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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