MCID: ALZ035
MIFTS: 35

Alzheimer Disease-4 malady

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

Aliases & Classifications for Alzheimer Disease-4

About this section

Aliases & Descriptions for Alzheimer Disease-4:

Name: Alzheimer Disease-4 50 12
Alzheimer Disease 4 68 25 66
Ad4 23 68
 
Alzheimer Disease Type 4 23
Ad 4 23

Characteristics:

HPO:

62
alzheimer disease-4:
Inheritance: autosomal dominant inheritance
Onset and clinical course: middle age onset


Classifications:



External Ids:

OMIM50 606889
MedGen35 C1847200
MeSH37 D000544

Summaries for Alzheimer Disease-4

About this section
UniProtKB/Swiss-Prot:68 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 Neuroscience and Notch signaling pathway (KEGG).

Description from OMIM:50 606889

Related Diseases for Alzheimer Disease-4

About this section

Graphical network of diseases related to Alzheimer Disease-4:



Diseases related to alzheimer disease-4

Symptoms for Alzheimer Disease-4

About this section

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Aluminum hydroxidePhase 119421645-51-2
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

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

About this section

Genetic tests related to Alzheimer Disease-4:

id Genetic test Affiliating Genes
1 Alzheimer Disease, Type 425
2 Alzheimer Disease Type 423 PSEN2

Anatomical Context for Alzheimer Disease-4

About this section

Animal Models for Alzheimer Disease-4 or affiliated genes

About this section

Publications for Alzheimer Disease-4

About this section

Variations for Alzheimer Disease-4

About this section

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease-4:

68
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)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.1289C> T (p.Thr430Met)single nucleotide variantPathogenicrs63750666GRCh37Chr 1, 227083222: 227083222
6PSEN2NM_000447.2(PSEN2): c.364A> C (p.Thr122Pro)single nucleotide variantPathogenicrs63749851GRCh37Chr 1, 227073246: 227073246
7PSEN2NM_000447.2(PSEN2): c.717G> A (p.Met239Ile)single nucleotide variantPathogenicrs63749884GRCh37Chr 1, 227076680: 227076680
8PSEN2NM_000447.2(PSEN2): c.365C> G (p.Thr122Arg)single nucleotide variantPathogenicrs28936380GRCh37Chr 1, 227073247: 227073247
9PSEN2NM_000447.2(PSEN2): c.254C> T (p.Ala85Val)single nucleotide variantPathogenicrs63750048GRCh37Chr 1, 227071518: 227071518

Expression for genes affiliated with Alzheimer Disease-4

About this section
Search GEO for disease gene expression data for Alzheimer Disease-4.

Pathways for genes affiliated with Alzheimer Disease-4

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.1PSEN1, PSEN2
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
7
Show member pathways
9.1PSEN1, PSEN2
89.1PSEN1, PSEN2
99.1PSEN1, PSEN2
109.1PSEN1, PSEN2
119.1PSEN1, PSEN2
129.1PSEN1, PSEN2
139.1PSEN1, PSEN2

GO Terms for genes affiliated with Alzheimer Disease-4

About this section

Cellular components related to Alzheimer Disease-4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:00007769.6PSEN1, PSEN2
2centrosomeGO:00058139.4PSEN1, PSEN2
3Golgi membraneGO:00001399.3PSEN1, PSEN2
4neuronal cell bodyGO:00430259.1PSEN1, PSEN2
5protein complexGO:00432349.0PSEN1, 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
2protein processingGO:00164859.6PSEN1, PSEN2
3membrane protein ectodomain proteolysisGO:00065099.6PSEN1, PSEN2
4amyloid precursor protein catabolic processGO:00429879.5PSEN1, PSEN2
5Notch receptor processingGO:00072209.4PSEN1, PSEN2
6Notch signaling pathwayGO:00072199.4PSEN1, PSEN2
7positive regulation of apoptotic processGO:00430659.2PSEN1, PSEN2
8intracellular signal transductionGO:00355569.1PSEN1, PSEN2
9positive regulation of catalytic activityGO:00430859.0PSEN1, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet