AD4
MCID: ALZ006
MIFTS: 25

Alzheimer Disease Type 4 (AD4) malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories

Summaries for Alzheimer Disease Type 4

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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, also known as alzheimer disease 4, is related to hyperlipidemia type 3 and alzheimer disease type 2. An important gene associated with Alzheimer Disease Type 4 is PSEN2 (presenilin 2). Affiliated tissues include brain.

Description from OMIM:48 606889

Aliases & Classifications for Alzheimer Disease Type 4

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Mental diseases, Neuronal diseases


Aliases & Descriptions:

alzheimer disease type 4 44
alzheimer disease 4 44 21 23 63
alzheimer disease familial type 4 44
alzheimer disease-4 48
ad4 44


Related Diseases for Alzheimer Disease Type 4

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Sources:
18GeneCards, 19GeneDecks
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Symptoms for Alzheimer Disease Type 4

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

606889

Clinical features from OMIM:

606889

Drugs & Therapeutics for Alzheimer Disease Type 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Alzheimer Disease Type 4:

id Genetic test Affiliating Genes
1 Alzheimer Disease Type 421 PSEN2
2 Alzheimer Disease, Type 423

Anatomical Context for Alzheimer Disease Type 4

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Sources:
34MalaCards
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MalaCards organs/tissues related to Alzheimer Disease Type 4:

34
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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Variations for Alzheimer Disease Type 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease Type 4:

65
id Symbol AA change Variation ID SNP ID
1PSEN2p.Asn141IleVAR_006462
2PSEN2p.Met239ValVAR_006463rs28936379
3PSEN2p.Val148IleVAR_007958
4PSEN2p.Thr122ProVAR_009214
5PSEN2p.Met239IleVAR_009215

Clinvar genetic disease variations for Alzheimer Disease Type 4:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1PSEN1NC_000014.9: g.73204762_73209317del4556deletionPathogenicGRCh37Chr 14, 73671470: 73676025
2PSEN1NM_000021.3(PSEN1): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs63750900GRCh37Chr 14, 73664775: 73664775
3PSEN2NM_000447.2(PSEN2): c.422A> T (p.Asn141Ile)single nucleotide variantPathogenicrs63750215GRCh37Chr 1, 227073304: 227073304
4PSEN2NM_000447.2(PSEN2): c.715A> G (p.Met239Val)single nucleotide variantPathogenicrs28936379GRCh37Chr 1, 227076678: 227076678
5PSEN2NM_000447.2(PSEN2): c.1316A> C (p.Asp439Ala)single nucleotide variantPathogenicrs63750110GRCh37Chr 1, 227083249: 227083249
6PSEN2NM_000447.2(PSEN2): c.1289C> T (p.Thr430Met)single nucleotide variantPathogenicrs63750666GRCh37Chr 1, 227083222: 227083222
7PSEN2NM_000447.2(PSEN2): c.364A> C (p.Thr122Pro)single nucleotide variantPathogenicrs63749851GRCh37Chr 1, 227073246: 227073246
8PSEN2NM_000447.2(PSEN2): c.717G> A (p.Met239Ile)single nucleotide variantPathogenicrs63749884GRCh37Chr 1, 227076680: 227076680
9PSEN2NM_000447.2(PSEN2): c.365C> G (p.Thr122Arg)single nucleotide variantPathogenicrs28936380GRCh37Chr 1, 227073247: 227073247
10PSEN2NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu)single nucleotide variantPathogenicrs63750197GRCh37Chr 1, 227073271: 227073271
11PSEN2NM_000447.2(PSEN2): c.254C> T (p.Ala85Val)single nucleotide variantPathogenicrs63750048GRCh37Chr 1, 227071518: 227071518

Expression for genes affiliated with Alzheimer Disease Type 4

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet