AD4
MCID: ALZ006
MIFTS: 21

Alzheimer Disease Type 4 (AD4) malady

Genetic diseases category

Summaries for Alzheimer Disease Type 4

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Alzheimer disease is a degenerative disease of the brain that causes gradual loss of memory, judgment, and ability to function socially. alzheimer disease currently affects about 5 million people. about 75 percent of alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. although the cause of these cases is unknown, genetic changes are likely to play a role. virtually all sporadic alzheimer disease begins after age 65, and the risk of developing this condition increases as a person gets older. the remaining cases of alzheimer disease are familial, which means they are found in multiple members of a family. familial alzheimer disease can be divided into early-onset disease (symptoms begin before age 65) and late-onset disease (symptoms begin after age 65). last updated: 7/2/2013

MalaCards: Alzheimer Disease Type 4, is also known as alzheimer disease 4 An important gene associated with Alzheimer Disease Type 4 is PSEN2 (presenilin 2 (Alzheimer disease 4)). Affiliated tissues include brain.

Description from OMIM:46 606889

Aliases & Classifications for Alzheimer Disease Type 4

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

alzheimer disease type 4 42
alzheimer disease 4 42 20 22 60
alzheimer disease familial type 4 42
alzheimer disease-4 46
ad4 42


Related Diseases for Alzheimer Disease Type 4

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Clinical Features for Alzheimer Disease Type 4

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Sources:
46OMIM
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Clinical features from OMIM:

606889

Clinical synopsis from OMIM:

606889

Drugs & Therapeutics for Alzheimer Disease Type 4

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alzheimer Disease Type 4

Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease Type 4

Search NIH Clinical Center for Alzheimer Disease Type 4

Search CenterWatch for Alzheimer Disease Type 4

Genetic Tests for Alzheimer Disease Type 4

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Alzheimer Disease Type 4:

id Genetic test Affiliating Genes
1 Alzheimer Disease Type 420 PSEN2
2 Alzheimer Disease, Type 422

Anatomical Context for Alzheimer Disease Type 4

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Sources:
32MalaCards
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MalaCards organs/tissues related to Alzheimer Disease Type 4:

32
Brain

Animal Models for Alzheimer Disease Type 4 or affiliated genes

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Publications for Alzheimer Disease Type 4

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Genetic Variations for Alzheimer Disease Type 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Alzheimer Disease Type 4:

62
id Symbol AA change Variation ID SNP ID
1PSEN2p.Asn141IleVAR_006462
2PSEN2p.Met239ValVAR_006463rs28936379
3PSEN2p.Val148IleVAR_007958
4PSEN2p.Thr122ProVAR_009214
5PSEN2p.Met239IleVAR_009215

Expression for genes affiliated with Alzheimer Disease Type 4

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease Type 4

Search GEO for disease gene expression data for Alzheimer Disease Type 4.

Pathways for genes affiliated with Alzheimer Disease Type 4

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Compounds for genes affiliated with Alzheimer Disease Type 4

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GO Terms for genes affiliated with Alzheimer Disease Type 4

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Products for genes affiliated with Alzheimer Disease Type 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease Type 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet