AD19
MCID: ALZ062
MIFTS: 24

Alzheimer Disease 19 (AD19)

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

Aliases & Classifications for Alzheimer Disease 19

MalaCards integrated aliases for Alzheimer Disease 19:

Name: Alzheimer Disease 19 58 12 76 6 74
Ad19 58 12 76
Alzheimer Disease, Late Onset, Susceptibility to, Type 19 41
Alzheimer Disease 19, Late-Onset 58
Alzheimer Disease 19 Late Onset 12
Late-Onset Alzheimers Disease 17
Alzheimer Disease, Late Onset 74
Late-Onset Alzheimer Disease 76
Alzheimer's Disease 19 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110051
OMIM 58 615711
MeSH 45 D000544

Summaries for Alzheimer Disease 19

UniProtKB/Swiss-Prot : 76 Alzheimer disease 19: 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 19, also known as ad19, is related to alzheimer disease 2 and alzheimer disease. An important gene associated with Alzheimer Disease 19 is PLD3 (Phospholipase D Family Member 3).

Disease Ontology : 12 An Alzheimer's disease that is characterized by associated variants of the gene PLD3.

Description from OMIM: 615711

Related Diseases for Alzheimer Disease 19

Graphical network of the top 20 diseases related to Alzheimer Disease 19:



Diseases related to Alzheimer Disease 19

Symptoms & Phenotypes for Alzheimer Disease 19

Clinical features from OMIM:

615711

Drugs & Therapeutics for Alzheimer Disease 19

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease 19

Genetic Tests for Alzheimer Disease 19

Anatomical Context for Alzheimer Disease 19

Publications for Alzheimer Disease 19

Articles related to Alzheimer Disease 19:

# Title Authors Year
1
PLD3 and sporadic Alzheimer's disease risk. ( 25832408 )
2015
2
PLD3 in non-familial Alzheimer's disease. ( 25832411 )
2015
3
PLD3 variants in population studies. ( 25832410 )
2015
4
Cruchaga & Goate reply. ( 25832412 )
2015
5
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. ( 24336208 )
2014
6
Lack of genetic association of cholesteryl ester transfer protein polymorphisms with late onset Alzheimers disease. ( 15882786 )
2005
7
Recombinant fibre proteins of human adenoviruses Ad9, Ad15 and Ad19: localization of the haemagglutination properties and the type-specific determinant. ( 9017826 )
1997

Variations for Alzheimer Disease 19

ClinVar genetic disease variations for Alzheimer Disease 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLD3 NM_012268.3(PLD3): c.694G> A (p.Val232Met) single nucleotide variant Uncertain significance rs145999145 GRCh38 Chromosome 19, 40371688: 40371688
2 PLD3 NM_012268.3(PLD3): c.694G> A (p.Val232Met) single nucleotide variant Uncertain significance rs145999145 GRCh37 Chromosome 19, 40877595: 40877595

Expression for Alzheimer Disease 19

Search GEO for disease gene expression data for Alzheimer Disease 19.

Pathways for Alzheimer Disease 19

GO Terms for Alzheimer Disease 19

Sources for Alzheimer Disease 19

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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