MCID: ALZ035
MIFTS: 38

Alzheimer Disease-4 malady

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

Aliases & Classifications for Alzheimer Disease-4

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Aliases & Descriptions for Alzheimer Disease-4:

Name: Alzheimer Disease-4 51 12
Alzheimer Disease 4 11 47 69 67
Ad4 11 47 24 69
Alzheimer Disease Type 4 47 24 26
 
Alzheimer Disease Familial Type 4 47
Alzheimer Disease, Familial4 11
Alzheimer's Disease 4 11
Ad 4 24

Characteristics:

HPO:

63
alzheimer disease-4:
Inheritance: autosomal dominant inheritance
Onset and clinical course: middle age onset

Classifications:



External Ids:

OMIM51 606889
Disease Ontology11 DOID:0110040
MedGen36 C1847200
MeSH38 D000544

Summaries for Alzheimer Disease-4

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UniProtKB/Swiss-Prot:69 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 Notch signaling pathway (KEGG) and Neuroscience.

Disease Ontology:11 An Alzheimer's disease that has material basis in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.

Description from OMIM:51 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

Human phenotypes related to Alzheimer Disease-4:

 63
id Description HPO Frequency HPO Source Accession
1 dementia63 HP:0000726
2 alzheimer disease63 HP:0002511
3 sleep-wake cycle disturbance63 HP:0006979
4 cerebral amyloid angiopathy63 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 120121645-51-2
Synonyms:
Al(OH)3
Aluminium hydroxide
Aluminium hydroxide gel, dried
 
Aluminium hydroxide, dried
Aluminum hydroxide gel, dried
Aluminum hydroxide, dried
Dried aluminium hydroxide
Dried aluminum hydroxide gel
2VaccinesPhase 16428
3KrestinPhase 1202

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate VaccinesUnknown statusNCT01979406Phase 1
2Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1CompletedNCT01006798Phase 1
3Study of Safety and Immunogenicity of HIV Vaccines in Healthy VolunteersRecruitingNCT01989533Phase 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 426
2 Alzheimer Disease Type 424 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:

69
id Symbol AA change Variation ID SNP ID
1PSEN2p.Asn141IleVAR_006462rs63750215
2PSEN2p.Met239ValVAR_006463rs28936379
3PSEN2p.Val148IleVAR_007958rs63750812
4PSEN2p.Thr122ProVAR_009214rs63749851
5PSEN2p.Met239IleVAR_009215rs63749884

Clinvar genetic disease variations for Alzheimer Disease-4:

5
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)SNVPathogenicrs63750900GRCh37Chr 14, 73664775: 73664775
3PSEN2NM_000447.2(PSEN2): c.422A> T (p.Asn141Ile)SNVPathogenicrs63750215GRCh37Chr 1, 227073304: 227073304
4PSEN2NM_000447.2(PSEN2): c.715A> G (p.Met239Val)SNVPathogenicrs28936379GRCh37Chr 1, 227076678: 227076678
5PSEN2NM_000447.2(PSEN2): c.1289C> T (p.Thr430Met)SNVPathogenicrs63750666GRCh37Chr 1, 227083222: 227083222
6PSEN2NM_000447.2(PSEN2): c.364A> C (p.Thr122Pro)SNVPathogenicrs63749851GRCh37Chr 1, 227073246: 227073246
7PSEN2NM_000447.2(PSEN2): c.717G> A (p.Met239Ile)SNVPathogenicrs63749884GRCh37Chr 1, 227076680: 227076680
8PSEN2NM_000447.2(PSEN2): c.365C> G (p.Thr122Arg)SNVPathogenicrs28936380GRCh37Chr 1, 227073247: 227073247
9PSEN2NM_000447.2(PSEN2): c.254C> T (p.Ala85Val)SNVPathogenicrs63750048GRCh37Chr 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
9.1PSEN1, PSEN2
29.1PSEN1, PSEN2
3
Show member pathways
9.1PSEN1, PSEN2
4
Show member pathways
9.1PSEN1, PSEN2
59.1PSEN1, PSEN2
6
Show member pathways
9.1PSEN1, 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:00007769.5PSEN1, PSEN2
2Golgi membraneGO:00001399.4PSEN1, PSEN2
3centrosomeGO:00058139.1PSEN1, PSEN2
4neuronal cell bodyGO:00430259.1PSEN1, PSEN2
5protein complexGO:00432348.8PSEN1, PSEN2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1beta-amyloid metabolic processGO:00504359.7PSEN1, PSEN2
2membrane protein ectodomain proteolysisGO:00065099.6PSEN1, PSEN2
3protein processingGO:00164859.6PSEN1, PSEN2
4amyloid precursor protein catabolic processGO:00429879.5PSEN1, PSEN2
5Notch receptor processingGO:00072209.3PSEN1, PSEN2
6Notch signaling pathwayGO:00072199.3PSEN1, PSEN2
7intracellular signal transductionGO:00355569.2PSEN1, PSEN2
8positive regulation of catalytic activityGO:00430859.1PSEN1, PSEN2
9positive regulation of apoptotic processGO:00430659.0PSEN1, PSEN2
10negative regulation of apoptotic processGO:00430668.8PSEN1, PSEN2

Molecular functions related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:00041909.1PSEN1, PSEN2
2endopeptidase activityGO:00041759.0PSEN1, PSEN2

Sources for Alzheimer Disease-4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet