AD2
MCID: ALZ003
MIFTS: 70

Alzheimer Disease Type 2 (AD2) malady

Neuronal diseases, Ear diseases, Genetic diseases categories

Summaries for Alzheimer Disease Type 2

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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 2, also known as late onset familial alzheimer disease, is related to parkinson's disease and alzheimer disease type 1. An important gene associated with Alzheimer Disease Type 2 is APOE (apolipoprotein E), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Notch Pathway. The drugs galantamine and selegiline and the compounds bleomycin and h2o2 have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Description from OMIM:46 104300, 104310, 602096, 605055, 605526 606187, 606889, 607116, 607822, 608907, 609636, 609790, 611073, 611152, 611154, 611155 more

Aliases & Classifications for Alzheimer Disease Type 2

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Sources:
60UMLS, 48Orphanet, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
early-onset familial autosomal dominant alzheimer disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

alzheimer disease type 2 63 42 20 22 60
late onset familial alzheimer disease 42 20
late onset alzheimer disease 42 44
early-onset familial autosomal dominant alzheimer disease 48
early-onset autosomal dominant alzheimer disease 48
alzheimer disease associated with apoe e4 42
late-onset familial alzheimer disease 63
alzheimer disease, late onset 60
alzheimer disease, late-onset 46
late-onset alzheimer disease 63
alzheimer disease, familial 60
familial alzheimer disease 48
alzheimer disease 2 60
alzheimer disease-2 46
alzheimer's disease 60
senile dementia 63
lofad 42
eofad 48
ad2 42


Related Diseases for Alzheimer Disease Type 2

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Alzheimer's Disease family:

Alzheimer Disease Type 1 alzheimer disease type 2
Alzheimer Disease Type 3 Alzheimer Disease Type 4
Alzheimer Disease Type 5 Alzheimer Disease-13
Alzheimer Disease-14 Alzheimer Disease-15
Alzheimer Disease 17 Alzheimer Disease-10
Alzheimer Disease 12 Alzheimer Disease-11
Alzheimer Disease-7 Alzheimer Disease 6
Alzheimer Disease 18 Alzheimer Disease 9, Late Onset
Alzheimer Disease 8 Alzheimer Disease 1, Familial
Alzheimer Disease 16

Diseases related to Alzheimer Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease30.5APP, APOE, PSEN1
2alzheimer disease type 130.5PSEN2, PSEN1, APP
3alzheimer's disease30.4SORL1, APP, APBB2, APOE, PSEN1, PSEN2
4pick's disease30.3PSEN1, APOE, APP
5dementia30.2PSEN2, PSEN1, APOE, APP
6vascular disease30.2NOS3, PSEN1, APOE
7arteriosclerosis30.1NOS3
8vascular dementia30.1APOE
9schizophrenia30.1PSEN1
10progressive supranuclear palsy30.1APOE, APP
11huntington's disease30.1PSEN2, PSEN1, APP
12lewy body dementia30.0APOE
13frontotemporal dementia30.0APP, APOE, PSEN1, PSEN2
14down syndrome30.0APP, APOE, PSEN1, PSEN2
15autosomal dominant disease10.3
16autosomal genetic disease10.3
17neuronitis10.3
18brain disease10.3
19chromosomal disease10.3
20hyperlipidemia type 310.3
21communicating hydrocephalus10.2
22hydrocephalus10.2
23cerebritis10.2
24microcephaly10.2
25alzheimer disease 9, late onset10.2
26capgras syndrome10.1
27hematologic cancer10.1
28metachromatic leukodystrophy10.0
29leukodystrophy10.0
30alzheimer disease type 310.0
31alzheimer disease type 410.0
32alzheimer disease 1, familial10.0
33hepatopulmonary syndrome10.0NOS3
34age related macular degeneration10.0APOE
35prion disease10.0PSEN1
36insulin resistance10.0NOS3
37hereditary cerebral amyloid angiopathy10.0APP
38inclusion body myositis10.0APP
39abdominal aortic aneurysm10.0APOE
40ischemia10.0NOS3, PSEN1
41hyperhomocysteinemia10.0APOE, NOS3
42hypertension10.0NOS3, APOE
43glioblastoma multiforme10.0PLAU, APP
44amyotrophic lateral sclerosis10.0PSEN1, APP
45binswanger's disease10.0APP, APOE
46stroke, hemorrhagic10.0APP, APOE
47cerebrovascular disease10.0APOE, APP
48hypercholesterolemia10.0NOS3, APOE
49myositis10.0PSEN1, APP
50tauopathy10.0PSEN1, APP

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



Diseases related to alzheimer disease type 2

Clinical Features for Alzheimer Disease Type 2

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Sources:
46OMIM
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Clinical features from OMIM:

104300, 104310, 602096, 605055, 605526, 606187, 606889, 607116, 607822, 608907 609636, 609790, 611073, 611152, 611154, 611155 more

Clinical synopsis from OMIM:

104300

Drugs & Therapeutics for Alzheimer Disease Type 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Alzheimer Disease Type 2

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20GeneTests, 22GTR
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Genetic tests related to Alzheimer Disease Type 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 Type 2

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32MalaCards
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MalaCards organs/tissues related to Alzheimer Disease Type 2:

32
Brain, Endothelial

Animal Models for Alzheimer Disease Type 2 or affiliated genes

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36MGI
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Publications for Alzheimer Disease Type 2

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Sources:
50PubMed
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Articles related to Alzheimer Disease Type 2:

idTitleAuthorsYear
1
Current View from Alzheimer Disease to Type 2 Diabetes Mellitus. (24059295)
2013
2
Enhanced risk for Alzheimer disease in persons with type 2 diabetes and APOE epsilon4: the Cardiovascular Health Study Cognition Study. (18195144)
2008

Genetic Variations for Alzheimer Disease Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Alzheimer Disease Type 2:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1APPp.Ala692GlyVAR_000016
2APPp.Ala713ThrVAR_000019
3APPp.Ile716ValVAR_000020
4APPp.Val717IleVAR_000021
5APPp.Val717GlyVAR_000022
6APPp.Val717PheVAR_000023
7APPp.Val715MetVAR_010108
8APPp.Leu723ProVAR_010109
9APPp.Glu693GlyVAR_014215
10APPp.Thr714IleVAR_014218
11APPp.Val717LeuVAR_014219
12APPp.Thr714AlaVAR_032277
13APPp.Asp678AsnVAR_044424

Expression for genes affiliated with Alzheimer Disease Type 2

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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 2

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

Pathways for genes affiliated with Alzheimer Disease Type 2

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Sources:
37NCBI BioSystems Database, 59Tocris Bioscience, 52R&D Systems, 12EMD Millipore, 29KEGG, 51QIAGEN, 53Reactome, 4Cell Signaling Technology
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Compounds for genes affiliated with Alzheimer Disease Type 2

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1bleomycin44 1111.5APOE
2h2o2449.8PSEN2, PSEN1
3s-182449.8PSEN1, PSEN2
4mrk 560599.7PSEN1, PSEN2
5jlk 6599.7PSEN1, PSEN2
6begacestat599.7PSEN1, PSEN2
7l-685,458599.7PSEN1, PSEN2
8dapt599.7PSEN1, PSEN2
9thioflavine s449.7APOE, APP
10metrifonate449.7APP, APOE
1124s-hydroxy-cholesterol449.7APP, APOE
12atorvastatin44 49 28 11 2413.7NOS3, PLAU, APOE
13aminoguanidine44 28 1111.6NOS3, PLAU
14thioflavin t449.6APOE, APP
15fulvestrant44 49 28 1112.6NOS3, PSEN2
16tacrine44 1110.6APOE, APP
17raloxifene44 28 49 1112.6PSEN2, PLAU, NOS3
18ab-42449.6APP, PSEN2
19donepezil44 11 2411.5APP, APOE
20prostacyclin449.5APOE, PLAU, NOS3
21homocysteine44 2410.4NOS3, PSEN1, APOE
22aebsf449.3NOS3, PLAU, APP
23biotin44 11 2411.3APOE, PSEN1, PSEN2
24chloroquine44 2 49 28 1113.2PLAU, APOE, APP
25tamoxifen44 49 28 1112.2APOE, PSEN2, PLAU, NOS3
26gf 109203x44 5910.2APP, PLAU, NOS3
27glycerol44 11 2411.1NOS3, PLAU, PSEN1
28simvastatin44 49 59 28 11 2414.1NOS3, APOE, APP
294-hydroxynonenal44 2410.0PSEN1, APOE, APP
30nicotine44 49 28 1112.0APP, APOE, PLAU
31galantamine44 49 1111.0APOE, APP
32sodium dodecylsulfate449.0APP, APOE, PLAU, NOS3
33aspirin44 49 28 2411.9APP, APOE, PLAU, NOS3
34carbachol44 28 1110.9NOS3, PSEN1, APP
35curcumin448.9APP, PSEN2, PLAU
36cycloheximide448.8PLAU, PSEN2, PSEN1, APOE
37folate448.7NOS3, PSEN1, APOE, APP
38thapsigargin44 599.7APP, PSEN1, PLAU, NOS3
39lactacystin448.6APP, APOE, PSEN1, PSEN2
40glutamine448.6PLAU, PSEN1, APOE, APP
41valine448.6PSEN2, PSEN1, APOE, APP
42choline44 11 2410.6APP, PSEN1, PSEN2, NOS3
43actinomycin d448.4NOS3, PLAU, PSEN2, APOE, APP
44vegf448.4NOS3, PLAU, PSEN2, APOE, APP
45arginine448.3APP, APOE, PSEN1, PLAU, NOS3
46aspartate448.2APP, APOE, PSEN1, PSEN2, PLAU
47cholesterol44 28 11 2411.2APP, APOE, PSEN1, PSEN2
48retinoic acid44 249.1APP, PSEN1, PSEN2, PLAU, NOS3
49glutamate447.8APP, APOE, PSEN1, PSEN2, PLAU, NOS3
50serine447.8APP, APOE, PSEN1, PSEN2, PLAU, NOS3

GO Terms for genes affiliated with Alzheimer Disease Type 2

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16Gene Ontology
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Cellular components related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particleGO:0343629.5SORL1, APOE
2neuronal cell bodyGO:0430259.0PSEN2, PSEN1, APOE
3growth coneGO:0304268.9APBB2, PSEN1, PSEN2
4ciliary rootletGO:0352538.7PSEN2, PSEN1, APP
5dendritic shaftGO:0431988.7PSEN2, PSEN1, APP
6neuromuscular junctionGO:0315948.7APP, PSEN1, PSEN2
7axonGO:0304248.2PSEN2, PSEN1, APP
8cell surfaceGO:0099868.1PLAU, PSEN2, PSEN1, APP
9Golgi apparatusGO:0057947.8PSEN2, PSEN1, APOE, APP, SORL1

Biological processes related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of platelet activationGO:01054410.1APOE, NOS3
2nitric oxide mediated signal transductionGO:00726310.0NOS3, APOE
3regulation of smooth muscle cell migrationGO:0149109.9SORL1, PLAU
4positive regulation of coagulationGO:0508209.7PSEN2, PSEN1
5myeloid leukocyte differentiationGO:0025739.7PSEN1, PSEN2
6T cell activation involved in immune responseGO:0022869.7PSEN1, PSEN2
7endoplasmic reticulum calcium ion homeostasisGO:0324699.7PSEN2, PSEN1
8amyloid precursor protein catabolic processGO:0429879.7PSEN2, PSEN1
9beta-amyloid metabolic processGO:0504359.7PSEN1, PSEN2
10anagenGO:0426409.7PSEN1, PSEN2
11brain morphogenesisGO:0488549.7PSEN2, PSEN1
12dorsal/ventral neural tube patterningGO:0219049.6PSEN1, PSEN2
13cell fate specificationGO:0017089.6PSEN2, PSEN1
14hematopoietic progenitor cell differentiationGO:0022449.6PSEN2, PSEN1
15receptor-mediated endocytosisGO:0068989.6APOE, SORL1
16Notch receptor processingGO:0072209.6PSEN1, PSEN2
17membrane protein ectodomain proteolysisGO:0065099.6PSEN2, PSEN1
18regulation of synaptic plasticityGO:0481679.6PSEN2, PSEN1
19regulation of epidermal growth factor-activated receptor activityGO:0071769.5APP, PSEN2
20protein processingGO:0164859.5PSEN2, PSEN1
21thymus developmentGO:0485389.4PSEN2, PSEN1
22smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.4PSEN1, APP
23somitogenesisGO:0017569.4PSEN1, PSEN2
24embryonic limb morphogenesisGO:0303269.3PSEN2, PSEN1
25neuron apoptotic processGO:0514029.3PSEN1, APP
26positive regulation of catalytic activityGO:0430859.2PSEN2, PSEN1
27cholesterol metabolic processGO:0082039.2APOE, APP, SORL1
28intracellular signal transductionGO:0355569.1APBB2, PSEN1, PSEN2
29positive regulation of apoptotic processGO:0430659.1PSEN2, PSEN1, APBB2
30memoryGO:0076139.0PSEN2, PSEN1
31regulation of protein bindingGO:0433938.9PSEN2, PSEN1, APP
32Notch signaling pathwayGO:0072198.8PSEN2, PSEN1, APP

Molecular functions related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:0015409.4APOE, APBB2
2endopeptidase activityGO:0041759.3PSEN2, PSEN1
3aspartic-type endopeptidase activityGO:0041909.2PSEN2, PSEN1
4protein bindingGO:0055156.4NOS3, SORL1, APP, APBB2, APOE, PSEN1

Products for genes affiliated with Alzheimer Disease Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease Type 2

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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