MCID: ALZ037
MIFTS: 45

Alzheimer Disease-2 malady

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

Summaries for Alzheimer Disease-2

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NIH Rare Diseases:41 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-2, also known as alzheimer disease type 2, is related to alzheimer disease and dementia, and has symptoms including dementia, parkinsonism and neurofibrillary tangles. An important gene associated with Alzheimer Disease-2 is APOE (apolipoprotein E), and among its related pathways are Alzheimer's disease and A-beta Uptake and Degradation. The drugs galantamine and selegiline and the compounds thioflavine s and metrifonate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype other.

Description from OMIM:45 104310

Aliases & Classifications for Alzheimer Disease-2

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Alzheimer Disease-2, Aliases & Descriptions:

Name: Alzheimer Disease-2 45 10
Alzheimer Disease Type 2 63 41 20 22
Late Onset Familial Alzheimer Disease 41 20
Late Onset Alzheimer Disease 41 43
Alzheimer Disease 2 45 60
Senile Dementia 63 60
Alzheimer Disease Associated with Apoe E4 41
 
Late-Onset Familial Alzheimer Disease 63
Alzheimer Disease, Late Onset 60
Late-Onset Alzheimer Disease 63
Alzheimer's Disease 60
Lofad 41
Ad2 41


Classifications:

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


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OMIM45 104310

Related Diseases for Alzheimer Disease-2

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Diseases in the Alzheimer Disease family:

Alzheimer Disease 17 Alzheimer Disease 12
Alzheimer Disease 18 Alzheimer Disease 16
Alzheimer Disease-4 Alzheimer Disease, Type 3
alzheimer disease-2 Alzheimer Disease 19, Late Onset
Alzheimer Disease Type 1 Alzheimer Disease Risk Factor
Early-Onset Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease-2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer disease31.7APOE, APP
2dementia30.7APOE, APP
3dementia, lewy body30.5APOE, APP
4hereditary cerebral amyloid angiopathy10.4APP
5inclusion body myositis10.4APP
6neuronitis10.4
7alzheimer disease 19, late onset10.3
8hyperlipidemia type 310.3
9hydrocephalus10.3
10communicating hydrocephalus10.3
11cerebral atrophy10.3
12parkinson disease, late-onset10.2APOE
13coronary artery disease10.2
14microcephaly10.2
15cerebritis10.2
16artery disease10.2
17posterior cortical atrophy10.2
18alzheimer disease mitochondrial10.2
19amyotrophic lateral sclerosis 110.2APP
20schizophrenia10.1
21hematologic cancer10.1
22capgras syndrome10.1
23arteriosclerosis10.1
24cerebral arteriosclerosis10.1
25blindness10.1
26binswanger's disease10.1APOE, APP
27hemorrhage, intracerebral10.1APOE, APP
28cerebral amyloid angiopathy10.1APP, APOE
29supranuclear palsy, progressive10.1APOE, APP
30vascular dementia10.1APOE, APP
31creutzfeldt-jakob disease10.1APOE, APP
32pick disease10.1APP, APOE
33cerebrovascular disease10.1APOE, APP
34dementia, frontotemporal10.1APP, APOE
35amyloidosis10.0APOE, APP
36prion disease10.0APOE, APP
37down syndrome10.0APOE, APP
38diabetes mellitus, insulin-dependent9.8MT-ND1, APOE
39diabetes mellitus, noninsulin-dependent9.7APOE, MT-ND1

Graphical network of the top 20 diseases related to Alzheimer Disease-2:



Diseases related to alzheimer disease-2

Symptoms for Alzheimer Disease-2

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Symptoms by clinical synopsis from OMIM:

104310

Clinical features from OMIM:

104310

HPO human phenotypes related to Alzheimer Disease-2:

(show all 6)
id Description Frequency HPO Source Accession
1 dementia HP:0000726
2 parkinsonism HP:0001300
3 neurofibrillary tangles HP:0002185
4 long-tract signs HP:0002423
5 alzheimer disease HP:0002511
6 late onset HP:0003584

Drugs & Therapeutics for Alzheimer Disease-2

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Genetic Tests for Alzheimer Disease-2

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Genetic tests related to Alzheimer Disease-2:

id Genetic test Affiliating Genes
1 Late-Onset Familial Alzheimer Disease20
2 Alzheimer Disease Type 220 APOE
3 Alzheimer Disease, Type 222

Anatomical Context for Alzheimer Disease-2

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MalaCards organs/tissues related to Alzheimer Disease-2:

31
Brain

Animal Models for Alzheimer Disease-2 or affiliated genes

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MGI Mouse Phenotypes related to Alzheimer Disease-2:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3APP, APOE

Publications for Alzheimer Disease-2

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Variations for Alzheimer Disease-2

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Clinvar genetic disease variations for Alzheimer Disease-2:

6
id Gene Variation 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
5APPNM_000484.3(APP): c.2018C> T (p.Ala673Val)single nucleotide variantPathogenicrs193922916GRCh37Chr 21, 27269931: 27269931
6HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141
7MT-ND1m.3397A> Gsingle nucleotide variantPathogenicrs199476120GRCh37Chr MT, 3397: 3397

Expression for genes affiliated with Alzheimer Disease-2

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Search GEO for disease gene expression data for Alzheimer Disease-2.

Pathways for genes affiliated with Alzheimer Disease-2

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Pathways related to Alzheimer Disease-2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Alzheimers Disease36
9.3APP, APOE
29.3APP, APOE
39.3APP, APOE
49.3APP, APOE
59.3APOE, APP

Compounds for genes affiliated with Alzheimer Disease-2

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Compounds related to Alzheimer Disease-2 according to GeneCards Suite gene sharing:

(show all 28)
idCompoundScoreTop Affiliating Genes
1thioflavine s439.7APP, APOE
2metrifonate439.7APP, APOE
324s-hydroxy-cholesterol439.7APOE, APP
4thioflavin t439.7APP, APOE
5tacrine43 1210.7APP, APOE
6donepezil43 49 24 1212.7APOE, APP
7galantamine43 49 1211.7APP, APOE
8formate439.7APP, APOE
9ibuprofen43 28 49 24 1213.6APP, APOE
104-hydroxynonenal43 2410.6APP, APOE
11chloroquine43 2 49 28 1213.6APOE, APP
12lactacystin439.6APP, APOE
13lovastatin43 49 59 28 1213.6APP, APOE
14sodium dodecylsulfate439.6APP, APOE
15simvastatin43 49 59 28 24 1214.6APOE, APP
16folate439.5APP, APOE
17nicotine43 28 49 1212.5APP, APOE
18isoflurane49 43 1211.5MT-ND1, APP
19vitamin a43 24 1211.4APP, APOE
20aspirin43 49 28 2412.4APP, APOE
21FAD249.4MT-ND1, APP
22nmda43 2810.3APOE, APP
23cyclosporin a43 28 5911.3APP, APOE
24acetylcholine43 49 28 24 1213.2APP, APOE
25actinomycin d439.0APP, APOE
26valine438.9MT-ND1, APP, APOE
27alanine438.8APOE, APP, MT-ND1
28serine438.7APOE, APP, MT-ND1

GO Terms for genes affiliated with Alzheimer Disease-2

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Biological processes related to Alzheimer Disease-2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol metabolic processGO:00082039.3APP, APOE

Molecular functions related to Alzheimer Disease-2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.3APP, APOE

Products for genes affiliated with Alzheimer Disease-2

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  • Antibodies
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  • Antibodies
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  • Kits and Assays

Sources for Alzheimer Disease-2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet