MCID: ALZ032
MIFTS: 17

Alzheimer Disease 18

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

Aliases & Classifications for Alzheimer Disease 18

MalaCards integrated aliases for Alzheimer Disease 18:

Name: Alzheimer Disease 18 57 12 75 29 6 73
Ad18 57 12 75
Alzheimer Disease, Susceptibility to, Type 18 40
Alzheimer Disease 18, Susceptibility to 57
Alzheimer Disease 18, Late-Onset 57
Alzheimer Disease 18 Late-Onset 75
Alzheimer's Disease 18 12

Classifications:



External Ids:

OMIM 57 615590
Disease Ontology 12 DOID:0110050
MeSH 44 D000544
UMLS 73 C3810041

Summaries for Alzheimer Disease 18

UniProtKB/Swiss-Prot : 75 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. 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 29 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:

75
# 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
3 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 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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