Alzheimer Disease-4 malady

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

Aliases & Classifications for Alzheimer Disease-4

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Aliases & Descriptions for Alzheimer Disease-4:

Name: Alzheimer Disease-4 46 9
Alzheimer Disease Type 4 42 20 22
Alzheimer Disease 4 46 42 61
Alzheimer Disease Familial Type 4 42
Ad4 42


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OMIM46 606889

Summaries for Alzheimer Disease-4

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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 based summary: Alzheimer Disease-4, also known as alzheimer disease type 4, is related to alzheimer disease and hyperlipidemia type 3, and has symptoms including autosomal dominant inheritance, dementia and middle age onset. An important gene associated with Alzheimer Disease-4 is PSEN2 (presenilin 2), and among its related pathways are Alzheimer's disease and Presenilin-Mediated Signaling. The compounds s-182 and mrk 560 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype limbs/digits/tail.

Description from OMIM:46 606889

Related Diseases for Alzheimer Disease-4

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Graphical network of diseases related to Alzheimer Disease-4:

Diseases related to alzheimer disease-4

Symptoms for Alzheimer Disease-4

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Alzheimer Disease-4:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dementia HP:0000726
3 middle age onset HP:0003596
4 sleep-wake cycle disturbance HP:0006979
5 cerebral amyloid angiopathy HP:0011970

Drugs & Therapeutics for Alzheimer Disease-4

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Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease-4

Search NIH Clinical Center for Alzheimer Disease-4

Genetic Tests for Alzheimer Disease-4

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Genetic tests related to Alzheimer Disease-4:

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

Anatomical Context for Alzheimer Disease-4

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MalaCards organs/tissues related to Alzheimer Disease-4:


Animal Models for Alzheimer Disease-4 or affiliated genes

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MGI Mouse Phenotypes related to Alzheimer Disease-4:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1PSEN2, PSEN1

Publications for Alzheimer Disease-4

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Variations for Alzheimer Disease-4

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UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease-4:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Alzheimer Disease-4:

5 (show all 11)
id Gene Variation 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-4

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

Pathways for genes affiliated with Alzheimer Disease-4

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Pathways related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
Alzheimers Disease36
29.1PSEN2, PSEN1
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
49.1PSEN2, PSEN1
Show member pathways
69.1PSEN1, PSEN2
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
89.1PSEN2, PSEN1
99.1PSEN2, PSEN1
109.1PSEN1, PSEN2
Show member pathways
Development Notch Signaling Pathway59
Transcription Sin3 and NuRD in transcription regulation59
129.1PSEN2, PSEN1

Compounds for genes affiliated with Alzheimer Disease-4

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44Novoseek, 60Tocris Bioscience, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

(show all 21)
idCompoundScoreTop Affiliating Genes
1s-182449.5PSEN2, PSEN1
2mrk 560609.5PSEN1, PSEN2
3jlk 6609.5PSEN1, PSEN2
4begacestat609.5PSEN1, PSEN2
5l-685,458609.4PSEN1, PSEN2
6dapt609.4PSEN1, PSEN2
7ryanodine44 28 6011.4PSEN2, PSEN1
8lactacystin449.4PSEN1, PSEN2
9biotin44 24 1111.4PSEN2, PSEN1
10choline44 24 1111.4PSEN2, PSEN1
11valine449.4PSEN1, PSEN2
1212-o-tetradecanoylphorbol 13-acetate449.4PSEN2, PSEN1
13potassium44 24 1111.3PSEN2, PSEN1
14lysine449.3PSEN1, PSEN2
15aspartate449.3PSEN2, PSEN1
16cycloheximide449.2PSEN1, PSEN2
17h2o2449.2PSEN2, PSEN1
18cholesterol44 28 24 1112.1PSEN2, PSEN1
19glutamate449.1PSEN2, PSEN1
20oligonucleotide449.0PSEN1, PSEN2
21nitric oxide44 24 1110.8PSEN2, PSEN1

GO Terms for genes affiliated with Alzheimer Disease-4

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Cellular components related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:00352539.5PSEN2, PSEN1
2dendritic shaftGO:00431989.5PSEN2, PSEN1
3neuromuscular junctionGO:00315949.5PSEN1, PSEN2
4kinetochoreGO:00007769.4PSEN2, PSEN1
5growth coneGO:00304269.4PSEN2, PSEN1
6Z discGO:00300189.4PSEN1, PSEN2
7cell cortexGO:00059389.4PSEN2, PSEN1
8membrane raftGO:00451219.4PSEN2, PSEN1
9axonGO:00304249.4PSEN1, PSEN2
10lysosomal membraneGO:00057659.4PSEN2, PSEN1
11apical plasma membraneGO:00163249.4PSEN1, PSEN2
12neuronal cell bodyGO:00430259.3PSEN2, PSEN1
13mitochondrial inner membraneGO:00057439.3PSEN2, PSEN1
14centrosomeGO:00058139.3PSEN1, PSEN2
15cell surfaceGO:00099869.2PSEN2, PSEN1
16Golgi membraneGO:00001399.2PSEN1, PSEN2
17perinuclear region of cytoplasmGO:00484719.1PSEN2, PSEN1
18Golgi apparatusGO:00057949.1PSEN2, PSEN1
19endoplasmic reticulumGO:00057839.0PSEN2, PSEN1
20endoplasmic reticulum membraneGO:00057898.8PSEN2, PSEN1

Biological processes related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:00508209.5PSEN2, PSEN1
2myeloid leukocyte differentiationGO:00025739.5PSEN2, PSEN1
3amyloid precursor protein catabolic processGO:00429879.5PSEN1, PSEN2
4endoplasmic reticulum calcium ion homeostasisGO:00324699.5PSEN1, PSEN2
5beta-amyloid metabolic processGO:00504359.5PSEN2, PSEN1
6anagenGO:00426409.5PSEN2, PSEN1
7dorsal/ventral neural tube patterningGO:00219049.5PSEN1, PSEN2
8cell fate specificationGO:00017089.5PSEN2, PSEN1
9hematopoietic progenitor cell differentiationGO:00022449.5PSEN2, PSEN1
10brain morphogenesisGO:00488549.4PSEN2, PSEN1
11T cell activation involved in immune responseGO:00022869.4PSEN1, PSEN2
12membrane protein ectodomain proteolysisGO:00065099.4PSEN2, PSEN1
13Notch receptor processingGO:00072209.4PSEN2, PSEN1
14protein processingGO:00164859.4PSEN1, PSEN2
15regulation of synaptic plasticityGO:00481679.4PSEN2, PSEN1
16thymus developmentGO:00485389.4PSEN2, PSEN1
17somitogenesisGO:00017569.4PSEN1, PSEN2
18embryonic limb morphogenesisGO:00303269.3PSEN2, PSEN1
19memoryGO:00076139.3PSEN2, PSEN1
20positive regulation of catalytic activityGO:00430859.3PSEN1, PSEN2
21calcium ion transportGO:00068169.2PSEN2, PSEN1
22T cell receptor signaling pathwayGO:00508529.2PSEN2, PSEN1
23Notch signaling pathwayGO:00072199.1PSEN1, PSEN2
24protein transportGO:00150319.1PSEN2, PSEN1
25positive regulation of apoptotic processGO:00430659.0PSEN2, PSEN1
26intracellular signal transductionGO:00355568.8PSEN2, PSEN1

Molecular functions related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:00041759.1PSEN2, PSEN1
2aspartic-type endopeptidase activityGO:00041908.8PSEN2, PSEN1

Sources for Alzheimer Disease-4

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet