MCID: ALZ035
MIFTS: 37

Alzheimer Disease-4 malady

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Alzheimer Disease-4

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Aliases & Descriptions for Alzheimer Disease-4:

Name: Alzheimer Disease-4 49 11
Alzheimer Disease 4 45 67 24 65
Ad4 45 22 67
 
Alzheimer Disease Type 4 45 22
Alzheimer Disease Familial Type 4 45
Ad 4 22

Characteristics:

HPO:

61
alzheimer disease-4:
Inheritance: autosomal dominant inheritance
Onset and clinical course: middle age onset


Classifications:



External Ids:

OMIM49 606889
MedGen34 C1847200
MeSH36 D000544
UMLS65 C1847200

Summaries for Alzheimer Disease-4

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UniProtKB/Swiss-Prot:67 Alzheimer disease 4: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.

MalaCards based summary: Alzheimer Disease-4, also known as alzheimer disease 4, is related to hyperlipidemia type 3 and alzheimer disease, and has symptoms including dementia, alzheimer disease and sleep-wake cycle disturbance. An important gene associated with Alzheimer Disease-4 is PSEN2 (Presenilin 2), and among its related pathways are and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases.

Description from OMIM:49 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:

606889

Clinical features from OMIM:

606889

HPO human phenotypes related to Alzheimer Disease-4:

id Description Frequency HPO Source Accession
1 dementia HP:0000726
2 alzheimer disease HP:0002511
3 sleep-wake cycle disturbance HP:0006979
4 cerebral amyloid angiopathy HP:0011970

Drugs & Therapeutics for Alzheimer Disease-4

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Drugs for Alzheimer Disease-4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Aluminum hydroxideapprovedPhase 1178
Synonyms:
Al(OH)3
Aluminiumhydroxid
 
Aluminum Hydroxide
Aluminum hydroxide
Dermadrox
2VaccinesPhase 16085
3Immunologic FactorsPhase 118483
4KrestinPhase 1189

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1CompletedNCT01006798Phase 1
2Study of Safety and Immunogenicity of HIV Vaccines in Healthy VolunteersRecruitingNCT01989533Phase 1
3A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate VaccinesActive, not recruitingNCT01979406Phase 1
4Intranasal AD4-H5-VTN as an Adenovirus VaccineActive, not recruitingNCT01806909Phase 1
5Experimental AD4-H5-VTN Vaccine in Healthy VolunteersActive, not recruitingNCT01443936Phase 1
6Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult ParticipantsActive, not recruitingNCT02771730Phase 1

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 422 PSEN2

Anatomical Context for Alzheimer Disease-4

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Animal Models for Alzheimer Disease-4 or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1PSEN2p.Asn141IleVAR_006462
2PSEN2p.Met239ValVAR_006463rs28936379
3PSEN2p.Val148IleVAR_007958
4PSEN2p.Thr122ProVAR_009214
5PSEN2p.Met239IleVAR_009215

Clinvar genetic disease variations for Alzheimer Disease-4:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1PSEN1NG_007386.2: g.73292_77847del4556deletionPathogenicGRCh37Chr 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 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1
2
Show member pathways
9.1PSEN1, PSEN2
3
Show member pathways
9.1PSEN1, PSEN2
4
Show member pathways
9.1PSEN1, PSEN2
5
Show member pathways
9.1PSEN1, PSEN2
69.1PSEN1, PSEN2
79.1PSEN1, PSEN2
89.1PSEN1, PSEN2
99.1PSEN1, PSEN2
109.1PSEN1, PSEN2
119.1PSEN1, PSEN2

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:

idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:00007769.2PSEN1, PSEN2
2endoplasmic reticulumGO:00057839.1PSEN1, PSEN2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic processGO:00430669.1PSEN1, PSEN2

Sources for Alzheimer Disease-4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet