AD3
MCID: ALZ005
MIFTS: 39

Alzheimer Disease Type 3 (AD3) malady

Ear, Genetic categories

Summaries for Alzheimer Disease Type 3

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 3, also known as alzheimer disease 3, is related to alzheimer disease type 2 and frontotemporal dementia. An important gene associated with Alzheimer Disease Type 3 is PSEN1 (presenilin 1), and among its related pathways are Notch Signaling Pathways and Development MAG-dependent inhibition of neurite outgrowth. The compounds s-182 and mrk 560 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Description from OMIM:47 607822

Aliases & Classifications for Alzheimer Disease Type 3

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

alzheimer disease type 3 43
alzheimer disease 3 43 20 22
alzheimer disease early onset type 3 43
alzheimer disease, familial, type 3 61
alzheimer disease, type 3 47
ad3 43


Related Diseases for Alzheimer Disease Type 3

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 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer disease type 230.0PSEN1, PSEN2, MAPT
2frontotemporal dementia30.0PSEN1, PSEN2, MAPT
3alzheimer disease, type 3, with spastic paraparesis and unusual plaques10.3
4alzheimer disease, type 3, with spastic paraparesis and apraxia10.3
5hyperlipidemia type 310.1
6myopathy10.0IGF1
7prion disease10.0PSEN1
8donohue syndrome10.0INSR
9pancreatic cancer10.0IGF1
10amenorrhea10.0IGF1
11growth hormone deficiency10.0IGF1
12alzheimer disease type 110.0PSEN1, PSEN2
13apraxia10.0MAPT
14astrocytoma10.0PSEN1, PSEN2
15hemorrhage, intracerebral10.0PSEN2, PSEN1
16schizophrenia10.0INSR, PSEN1
17rabson-mendenhall syndrome10.0INSR, IGF1
18cerebral amyloid angiopathy10.0MAPT, PSEN1
19acanthosis nigricans10.0INSR, IGF1
20polycystic ovary syndrome10.0INSR, IGF1
21glucose intolerance10.0INSR, IGF1
22vascular dementia10.0MAPT, PSEN1
23tauopathy10.0MAPT, PSEN1
24ovarian cancer10.0PSEN2, INSR
25memory impairment10.0MAPT, PSEN1
26myotonic dystrophy10.0INSR, MAPT
27hyperinsulinism10.0IGF1, INSR
28motor neuron disease10.0MAPT
29hyperandrogenism10.0INSR, IGF1
30brain disease10.0PSEN1, MAPT
31amyloid tumor10.0PSEN1, PSEN2, MAPT
32pick's disease10.0MAPT, PSEN1
33huntington's disease10.0MAPT, PSEN2, PSEN1
34amyotrophic lateral sclerosis10.0PSEN1, IGF1, MAPT
35down syndrome10.0MAPT, PSEN2, PSEN1
36amyloidosis10.0MAPT, PSEN2, PSEN1
37ischemia10.0PSEN1, MAPT, INSR
38parkinson's disease10.0INSR, MAPT, PSEN1
39adenocarcinoma10.0PSEN2, MAPT, INSR
40dementia10.0INSR, MAPT, PSEN2, PSEN1
41malignant glioma10.0INSR, MAPT, PSEN2, PSEN1
42alzheimer's disease10.0INSR, MAPT, PSEN2, PSEN1
43breast cancer10.0PSEN2, IGF1, MAPT, INSR

Graphical network of the top 20 diseases related to Alzheimer Disease Type 3:



Diseases related to alzheimer disease type 3

Clinical Features for Alzheimer Disease Type 3

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607822

Clinical synopsis from OMIM:

607822

Drugs & Therapeutics for Alzheimer Disease Type 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Alzheimer Disease Type 3

Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease Type 3

Search NIH Clinical Center for Alzheimer Disease Type 3

Search CenterWatch for Alzheimer Disease Type 3

Genetic Tests for Alzheimer Disease Type 3

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Alzheimer Disease Type 3:

id Genetic test Affiliating Genes
1 Alzheimer Disease Type 320 PSEN1
2 Alzheimer Disease, Type 322

Anatomical Context for Alzheimer Disease Type 3

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Alzheimer Disease Type 3:

33
Brain

Animal Models for Alzheimer Disease Type 3 or affiliated genes

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

Publications for Alzheimer Disease Type 3

Genetic Variations for Alzheimer Disease Type 3

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Alzheimer Disease Type 3:

63 (show all 71)
id Symbol AA change Variation SNP ID
1PSEN1p.Ala79ValVAR_006413
2PSEN1p.Val82LeuVAR_006414
3PSEN1p.Val96PheVAR_006415
4PSEN1p.Tyr115CysVAR_006416
5PSEN1p.Tyr115HisVAR_006417
6PSEN1p.Glu120AspVAR_006418
7PSEN1p.Glu120LysVAR_006419
8PSEN1p.Met139IleVAR_006420
9PSEN1p.Met139ThrVAR_006421
10PSEN1p.Met139ValVAR_006422
11PSEN1p.Ile143PheVAR_006423
12PSEN1p.Ile143ThrVAR_006424
13PSEN1p.Met146IleVAR_006425
14PSEN1p.Met146LeuVAR_006426
15PSEN1p.Met146ValVAR_006427
16PSEN1p.His163ArgVAR_006428
17PSEN1p.His163TyrVAR_006429
18PSEN1p.Ser169LeuVAR_006430
19PSEN1p.Ser169ProVAR_006431
20PSEN1p.Leu171ProVAR_006432
21PSEN1p.Gly209ValVAR_006433
22PSEN1p.Ile213ThrVAR_006434
23PSEN1p.Ala231ThrVAR_006435
24PSEN1p.Ala231ValVAR_006436
25PSEN1p.Met233ThrVAR_006437
26PSEN1p.Ala246GluVAR_006439
27PSEN1p.Leu250SerVAR_006440
28PSEN1p.Ala260ValVAR_006441
29PSEN1p.Leu262PheVAR_006442
30PSEN1p.Cys263ArgVAR_006443
31PSEN1p.Pro264LeuVAR_006444
32PSEN1p.Pro267SerVAR_006445
33PSEN1p.Pro267ThrVAR_006446
34PSEN1p.Arg269GlyVAR_006447
35PSEN1p.Arg269HisVAR_006448
36PSEN1p.Arg278ThrVAR_006449
37PSEN1p.Glu280AlaVAR_006450
38PSEN1p.Glu280GlyVAR_006451
39PSEN1p.Ala285ValVAR_006452
40PSEN1p.Leu286ValVAR_006453
41PSEN1p.Gly378GluVAR_006455
42PSEN1p.Gly384AlaVAR_006456
43PSEN1p.Leu392ValVAR_006457
44PSEN1p.Cys410TyrVAR_006458rs661
45PSEN1p.Ala426ProVAR_006459
46PSEN1p.Pro436GlnVAR_006460rs28930977
47PSEN1p.Pro436SerVAR_008141
48PSEN1p.Phe105LeuVAR_009208
49PSEN1p.Pro117LeuVAR_009209
50PSEN1p.Gly209ArgVAR_009210
51PSEN1p.Met233LeuVAR_009211
52PSEN1p.Leu282ArgVAR_009212
53PSEN1p.Ala409ThrVAR_009213
54PSEN1p.Thr116AsnVAR_010120
55PSEN1p.Asn135AspVAR_010121
56PSEN1p.Met139LysVAR_010122
57PSEN1p.Thr147IleVAR_010123
58PSEN1p.Trp165CysVAR_010124
59PSEN1p.Leu173TrpVAR_010125
60PSEN1p.Leu219ProVAR_010126
61PSEN1p.Ser289CysVAR_010127
62PSEN1p.Ser390IleVAR_010128
63PSEN1p.Asn405SerVAR_010129
64PSEN1p.Cys92SerVAR_016214
65PSEN1p.Leu166ProVAR_016216
66PSEN1p.Leu174MetVAR_016217
67PSEN1p.Gly206AlaVAR_016218
68PSEN1p.Gly266SerVAR_016219
69PSEN1p.Leu271ValVAR_016220
70PSEN1p.Ala431GluVAR_025605
71PSEN1p.Leu262ValVAR_070025

Expression for genes affiliated with Alzheimer Disease Type 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alzheimer Disease Type 3

Search GEO for disease gene expression data for Alzheimer Disease Type 3.

Pathways for genes affiliated with Alzheimer Disease Type 3

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

Pathways related to Alzheimer Disease Type 3 according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PSEN1, PSEN2
29.5PSEN2, PSEN1
39.5PSEN2, PSEN1
4
Hide members
9.5PSEN2, PSEN1
5
Hide members
9.5PSEN2, PSEN1
69.5PSEN2, PSEN1
79.3IGF1, INSR
89.3IGF1, INSR
9
Hide members
9.3INSR, IGF1
10
Hide members
9.0PSEN1, PSEN2, IGF1
118.7PSEN2, MAPT, PSEN1
12
Hide members
8.5IGF1, INSR, MAPT
13
Hide members
8.5MAPT, INSR, IGF1
14
Hide members
8.4IGF1, INSR, PSEN2, PSEN1
15
Hide members
8.1MAPT, PSEN1, INSR, PSEN2
168.1PSEN1, PSEN2, INSR, MAPT

Compounds for genes affiliated with Alzheimer Disease Type 3

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

Compounds related to Alzheimer Disease Type 3 according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1s-182459.9PSEN2, PSEN1
2mrk 560609.9PSEN1, PSEN2
3jlk 6609.9PSEN1, PSEN2
4begacestat609.9PSEN1, PSEN2
5l-685,458609.9PSEN1, PSEN2
6dapt609.9PSEN1, PSEN2
7bms 536924609.7IGF1, INSR
8demethylasterriquinone b1609.7IGF1, INSR
9insulin (human) recombinant609.7IGF1, INSR
10picropodophyllotoxin609.7IGF1, INSR
11mecasermin45 1110.7INSR, IGF1
12ag 1024459.7INSR, IGF1
13raloxifene45 29 50 1112.7PSEN2, IGF1
14clomiphene citrate459.7IGF1, INSR
15aicar45 11 2411.6INSR, IGF1
16l-nmma459.6IGF1, INSR
17ryanodine45 29 6011.6PSEN1, PSEN2
18spec-t459.5PSEN1, MAPT
192-deoxyglucose45 1110.5INSR, IGF1
20octreotide45 60 29 1112.4INSR, IGF1
214-hydroxytamoxifen459.4IGF1, PSEN2
22valproate459.4IGF1, MAPT
23metformin45 50 1111.3IGF1, INSR
24menadione45 11 2411.3IGF1, MAPT
25biotin45 11 2411.3INSR, PSEN2, PSEN1
26phosphoserine45 2410.2INSR, MAPT
27c-peptide459.2INSR, IGF1
28vitamin b12459.1PSEN1, IGF1, MAPT
29choline45 11 2411.0MAPT, PSEN2, PSEN1
30glycerol45 11 2410.9INSR, MAPT, PSEN1
31nmda45 299.9INSR, MAPT, PSEN1
32glycogen45 249.9INSR, MAPT, PSEN1
33cytochalasin d45 609.9IGF1, MAPT, INSR
34dopamine45 29 11 2411.8IGF1, MAPT, INSR
35creatinine458.7INSR, MAPT, IGF1
36lactacystin458.5INSR, MAPT, PSEN2, PSEN1
37valine458.5INSR, MAPT, PSEN2, PSEN1
38retinoic acid45 249.5MAPT, IGF1, PSEN2, PSEN1
39glutamine458.5PSEN1, IGF1, MAPT, INSR
40aspartate458.5PSEN1, PSEN2, MAPT, INSR
41h2o2458.4PSEN1, PSEN2, MAPT, INSR
42actinomycin d458.4PSEN2, IGF1, MAPT, INSR
43arginine458.4PSEN1, IGF1, MAPT, INSR
44genistein45 29 60 2 11 2413.4INSR, MAPT, IGF1, PSEN2
45glutamate458.4PSEN1, PSEN2, MAPT, INSR
46estrogen458.3PSEN2, IGF1, MAPT, INSR
47tyrosine458.1PSEN1, PSEN2, IGF1, INSR
48cycloheximide458.0PSEN1, PSEN2, IGF1, MAPT, INSR
49glucose458.0PSEN1, PSEN2, IGF1, MAPT, INSR
50serine457.9PSEN1, PSEN2, IGF1, MAPT, INSR

GO Terms for genes affiliated with Alzheimer Disease Type 3

Sources:
16Gene Ontology
See all sources

Cellular components related to Alzheimer Disease Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:0352539.6PSEN1, PSEN2
2dendritic shaftGO:0431989.5PSEN2, PSEN1
3Z discGO:0300189.5PSEN1, PSEN2
4neuromuscular junctionGO:0315949.4PSEN2, PSEN1
5kinetochoreGO:0007769.2PSEN1, PSEN2
6growth coneGO:0304268.8PSEN2, MAPT, PSEN1
7axonGO:0304248.7MAPT, PSEN2, PSEN1

Biological processes related to Alzheimer Disease Type 3 according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:0508209.9PSEN1, PSEN2
2myeloid leukocyte differentiationGO:0025739.9PSEN2, PSEN1
3T cell activation involved in immune responseGO:0022869.9PSEN1, PSEN2
4endoplasmic reticulum calcium ion homeostasisGO:0324699.9PSEN2, PSEN1
5amyloid precursor protein catabolic processGO:0429879.9PSEN1, PSEN2
6beta-amyloid metabolic processGO:0504359.9PSEN1, PSEN2
7anagenGO:0426409.9PSEN2, PSEN1
8brain morphogenesisGO:0488549.9PSEN2, PSEN1
9dorsal/ventral neural tube patterningGO:0219049.8PSEN1, PSEN2
10cell fate specificationGO:0017089.8PSEN1, PSEN2
11hematopoietic progenitor cell differentiationGO:0022449.8PSEN2, PSEN1
12Notch receptor processingGO:0072209.8PSEN1, PSEN2
13regulation of protein bindingGO:0433939.8PSEN2, PSEN1
14membrane protein ectodomain proteolysisGO:0065099.8PSEN1, PSEN2
15regulation of synaptic plasticityGO:0481679.8PSEN1, PSEN2
16protein processingGO:0164859.7PSEN2, PSEN1
17exocrine pancreas developmentGO:0310179.7IGF1, INSR
18thymus developmentGO:0485389.7PSEN1, PSEN2
19positive regulation of glycolysisGO:0458219.7IGF1, INSR
20lung alveolus developmentGO:0482869.7IGF1, PSEN2
21positive regulation of glycogen biosynthetic processGO:0457259.7IGF1, INSR
22somitogenesisGO:0017569.7PSEN2, PSEN1
23positive regulation of catalytic activityGO:0430859.6PSEN1, PSEN2
24positive regulation of mitosisGO:0458409.6INSR, IGF1
25positive regulation of glucose importGO:0463269.6INSR, IGF1
26embryonic limb morphogenesisGO:0303269.6PSEN1, PSEN2
27memoryGO:0076139.6PSEN1, PSEN2
28positive regulation of DNA replicationGO:0457409.6INSR, IGF1
29T cell receptor signaling pathwayGO:0508529.5PSEN2, PSEN1
30positive regulation of MAPK cascadeGO:0434109.3IGF1, INSR
31positive regulation of protein kinase B signaling cascadeGO:0518979.2INSR, IGF1
32calcium ion transportGO:0068169.2PSEN1, PSEN2

Molecular functions related to Alzheimer Disease Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:0041759.5PSEN2, PSEN1
2insulin-like growth factor receptor bindingGO:0051599.2INSR, IGF1
3aspartic-type endopeptidase activityGO:0041909.2PSEN2, PSEN1

Products for genes affiliated with Alzheimer Disease Type 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease Type 3

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