AD2
MCID: ALZ003
MIFTS: 57

Alzheimer Disease Type 2 (AD2) malady

Neuronal, Ear, Genetic categories

Summaries for Alzheimer Disease Type 2

Sources:
43NIH Rare Diseases, 47OMIM, 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 2, also known as late onset familial alzheimer disease, is related to alzheimer's disease and lewy body dementia. 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:47 104300, 104310, 602096, 605055, 605526 606187, 606889, 607116, 607822, 608907, 609636, 609790, 611073, 611152, 611154, 611155 more

Aliases & Classifications for Alzheimer Disease Type 2

Sources:
61UMLS, 49Orphanet, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 64 43 20 22 61
late onset familial alzheimer disease 43 20
late onset alzheimer disease 43 45
early-onset familial autosomal dominant alzheimer disease 49
early-onset autosomal dominant alzheimer disease 49
alzheimer disease associated with apoe e4 43
late-onset familial alzheimer disease 64
alzheimer disease, late onset 61
alzheimer disease, late-onset 47
late-onset alzheimer disease 64
alzheimer disease, familial 61
familial alzheimer disease 49
alzheimer disease 2 61
alzheimer disease-2 47
alzheimer's disease 61
senile dementia 64
lofad 43
eofad 49
ad2 43


Related Diseases for Alzheimer Disease Type 2

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the alzheimer's disease family:

alzheimer disease type 1 alzheimer disease type 2
alzheimer disease type 3 alzheimer disease type 4
alzheimer's disease without neurofibrillary tangles 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, type 3, with spastic paraparesis and unusual plaques
alzheimer disease, type 3, with spastic paraparesis and apraxia 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 62)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer's disease31.1NOS3, PSEN1, APBB2, APP, SORL1, PSEN2
2lewy body dementia30.8APOE
3alzheimer disease type 130.5APP, PSEN2, PSEN1
4pick's disease30.3PSEN1, APP, APOE
5down syndrome30.3APP, APOE, PSEN2, PSEN1
6vascular disease30.2PSEN1, APOE, NOS3
7arteriosclerosis30.1NOS3
8vascular dementia30.1APOE
9progressive supranuclear palsy30.1APOE, APP
10huntington's disease30.1APP, PSEN1, PSEN2
11frontotemporal dementia30.0PSEN2, PSEN1, APOE, APP
12parkinson's disease30.0PSEN1, APOE, APP
13alzheimer disease 9, late onset10.3
14autosomal dominant disease10.3
15autosomal genetic disease10.3
16brain disease10.3
17hyperlipidemia type 310.3
18cerebral atrophy10.2
19microcephaly10.2
20alzheimer disease risk factor10.2
21alzheimer disease-1010.2
22alzheimer disease 1210.2
23capgras syndrome10.1
24cerebral arteriosclerosis10.1
25chorea10.1
26metachromatic leukodystrophy10.1
27alzheimer disease type 310.1
28alzheimer disease type 410.1
29spastic paraparesis10.1
30alzheimer disease 1, familial10.1
31lip disease10.1
32hepatopulmonary syndrome10.0NOS3
33age related macular degeneration10.0APOE
34prion disease10.0PSEN1
35insulin resistance10.0NOS3
36hereditary cerebral amyloid angiopathy10.0APP
37inclusion body myositis10.0APP
38abdominal aortic aneurysm10.0APOE
39schizophrenia10.0PSEN1
40ischemia10.0PSEN1, NOS3
41hyperhomocysteinemia10.0NOS3, APOE
42hypertension10.0APOE, NOS3
43glioblastoma multiforme10.0PLAU, APP
44amyotrophic lateral sclerosis10.0PSEN1, APP
45binswanger's disease10.0APP, APOE
46stroke, hemorrhagic10.0APP, APOE
47cerebrovascular disease10.0APP, APOE
48hypercholesterolemia10.0NOS3, APOE
49myositis10.0PSEN1, APP
50tauopathy10.0APP, PSEN1

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

Sources:
47OMIM
See all sources

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Alzheimer Disease Type 2

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Alzheimer Disease Type 2:

33
Brain, Endothelial

Animal Models for Alzheimer Disease Type 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Alzheimer Disease Type 2

Genetic Variations for Alzheimer Disease Type 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Alzheimer Disease Type 2:

63 (show all 13)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 60Tocris Bioscience, 53R&D Systems, 12EMD Millipore, 30KEGG, 52QIAGEN, 54Reactome, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Alzheimer Disease Type 2

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR, 24HMDB, 2BitterDB
See all sources

Compounds related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1bleomycin45 1111.5APOE
2h2o2459.8PSEN1, PSEN2
3s-182459.8PSEN1, PSEN2
4jlk 6609.7PSEN2, PSEN1
5begacestat609.7PSEN1, PSEN2
6dapt609.7PSEN1, PSEN2
7mrk 560609.7PSEN1, PSEN2
8l-685,458609.7PSEN1, PSEN2
9thioflavine s459.7APOE, APP
10metrifonate459.7APP, APOE
1124s-hydroxy-cholesterol459.7APOE, APP
12atorvastatin45 50 29 11 2413.7NOS3, PLAU, APOE
13thioflavin t459.6APOE, APP
14fulvestrant45 50 29 1112.6NOS3, PSEN2
15tacrine45 1110.6APP, APOE
16raloxifene45 29 50 1112.6PLAU, PSEN2, NOS3
17ab-42459.6APP, PSEN2
18donepezil45 11 2411.5APP, APOE
19prostacyclin459.5NOS3, PLAU, APOE
20homocysteine45 2410.4NOS3, PSEN1, APOE
21aminoguanidine45 29 1111.4NOS3, PLAU
22aebsf459.3APP, PLAU, NOS3
23biotin45 11 2411.3PSEN2, APOE, PSEN1
24chloroquine45 2 50 29 1113.2PLAU, APP, APOE
25tamoxifen45 50 29 1112.2PLAU, NOS3, APOE, PSEN2
26galantamine45 50 1111.2APOE, APP
27gf 109203x45 6010.2NOS3, APP, PLAU
28glycerol45 11 2411.1PSEN1, PLAU, NOS3
29simvastatin45 50 60 29 11 2414.1NOS3, APP, APOE
304-hydroxynonenal45 2410.0PSEN1, APP, APOE
31nicotine45 50 29 1112.0APP, APOE, PLAU
32sodium dodecylsulfate459.0PLAU, NOS3, APOE, APP
33aspirin45 50 29 2411.9APP, APOE, PLAU, NOS3
34carbachol45 29 1110.9PSEN1, NOS3, APP
35curcumin458.9PLAU, PSEN2, APP
36cycloheximide458.8PSEN2, APOE, PLAU, PSEN1
37folate458.7PSEN1, APOE, APP, NOS3
38thapsigargin45 609.7PLAU, PSEN1, APP, NOS3
39lactacystin458.6APP, PSEN1, APOE, PSEN2
40glutamine458.6PLAU, APOE, APP, PSEN1
41valine458.6PSEN2, APP, APOE, PSEN1
42choline45 11 2410.6APP, NOS3, PSEN1, PSEN2
43actinomycin d458.4APOE, APP, PSEN2, NOS3, PLAU
44vegf458.4PLAU, PSEN2, APP, APOE, NOS3
45arginine458.3NOS3, PLAU, PSEN1, APOE, APP
46aspartate458.2APOE, APP, PSEN2, PLAU, PSEN1
47cholesterol45 29 11 2411.2APOE, PSEN1, APP, PSEN2
48retinoic acid45 249.1PSEN2, APP, PSEN1, PLAU, NOS3
49glutamate457.8PSEN2, NOS3, PSEN1, APOE, APP, PLAU
50serine457.8PLAU, PSEN2, PSEN1, APOE, NOS3, APP

GO Terms for genes affiliated with Alzheimer Disease Type 2

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease Type 2

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet