AD1
MCID: ALZ002
MIFTS: 23

Alzheimer Disease Type 1 (AD1) malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories
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Summaries for Alzheimer Disease Type 1

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Sources:
43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 1, also known as early-onset familial alzheimer disease, is related to hyperlipidemia type 3 and frontotemporal dementia. An important gene associated with Alzheimer Disease Type 1 is PSEN2 (presenilin 2). Affiliated tissues include brain.

GeneReviews summary for alzheimer-early

Aliases & Classifications for Alzheimer Disease Type 1

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Sources:
65Wikipedia, 43NIH Rare Diseases, 62UMLS, 19GeneReviews, 20GeneTests, 22GTR
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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 1 65 43 62
early-onset familial alzheimer disease 65 19 20
alzheimer disease 1 43 20 22
early-onset familial form of alzheimer disease 43
eofad 19
ad1 43


Related Diseases for Alzheimer Disease Type 1

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Alzheimer Disease Type 1:



Diseases related to alzheimer disease type 1

Symptoms for Alzheimer Disease Type 1

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Drugs & Therapeutics for Alzheimer Disease Type 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease Type 1

Search NIH Clinical Center for Alzheimer Disease Type 1

Genetic Tests for Alzheimer Disease Type 1

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20GeneTests, 22GTR
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Genetic tests related to Alzheimer Disease Type 1:

id Genetic test Affiliating Genes
1 Early-Onset Familial Alzheimer Disease20 PSEN2
2 Alzheimer Disease Type 120 APP
3 Alzheimer Disease, Type 122

Anatomical Context for Alzheimer Disease Type 1

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33MalaCards
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MalaCards organs/tissues related to Alzheimer Disease Type 1:

33
Brain

Animal Models for Alzheimer Disease Type 1 or affiliated genes

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Publications for Alzheimer Disease Type 1

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Variations for Alzheimer Disease Type 1

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alzheimer Disease Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1APPNM_000484.3(APP): c.2149G> A (p.Val717Ile)single nucleotide variantPathogenicrs63750264GRCh37Chr 21, 27264096: 27264096
2APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
3APPNM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)indelPathogenicrs281865161GRCh37Chr 21, 27269938: 27269939
4APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167

Expression for genes affiliated with Alzheimer Disease Type 1

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease Type 1

Search GEO for disease gene expression data for Alzheimer Disease Type 1.

Pathways for genes affiliated with Alzheimer Disease Type 1

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Compounds for genes affiliated with Alzheimer Disease Type 1

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GO Terms for genes affiliated with Alzheimer Disease Type 1

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Products for genes affiliated with Alzheimer Disease Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet