Alzheimer Disease-4 malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories

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 22 24 65 67
Ad4 45 22 67
Alzheimer Disease Familial Type 4 45
Alzheimer Disease Type 4 45
Ad 4 22


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OMIM49 606889
MedGen34 C1847200
MeSH36 D000544

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 alzheimer disease and hyperlipidemia type 3, and has symptoms including autosomal dominant inheritance, dementia and alzheimer disease. An important gene associated with Alzheimer Disease-4 is PSEN2 (Presenilin 2), and among its related pathways are Notch Signaling Pathways and Presenilin-Mediated Signaling. Related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Description from OMIM:49 606889

Related Diseases for Alzheimer Disease-4

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Diseases in the Alzheimer Disease family:

alzheimer disease-4 Alzheimer Disease 17
Alzheimer Disease 12 Alzheimer Disease, Type 3
Alzheimer Disease 18 Alzheimer Disease-2
Alzheimer Disease 19, Late Onset Alzheimer Disease 16
Alzheimer Disease Type 1 Early-Onset, Autosomal Dominant Alzheimer Disease
Alzheimer Disease Risk Factor

Diseases related to Alzheimer Disease-4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer disease29.4APOE, PSEN1, PSEN2
2hyperlipidemia type 310.1
3tardive dyskinesia10.1
4dementia, frontotemporal10.0PSEN1, PSEN2
5eccentrochondrodysplasia10.0PSEN1, PSEN2
6amusia10.0PSEN1, PSEN2
7septate vagina9.9PSEN1, PSEN2
8hereditary angioedema9.9APOE, PSEN1
9semmekrot haraldsson weemaes syndrome9.9APOE, PSEN1
10crimean-congo hemorrhagic fever9.9APOE, PSEN1
11milker's nodule9.9APOE, PSEN1
12macular degeneration, age-related, 119.9APOE, PSEN1
13bladder neck obstruction9.8APOE, PSEN2
14dementia, lewy body9.8APOE, PSEN1
15peripheral vascular disease9.8APOE, PSEN1
16anal canal adenocarcinoma9.8APOE, PSEN1
17alzheimer disease-49.7APOE, PSEN1, PSEN2
18lipoprotein glomerulopathy9.7APOE, PSEN1, PSEN2
19progressive myoclonus epilepsy9.7APOE, PSEN1, PSEN2
20pick disease9.7APOE, PSEN1, PSEN2
21teeth hard tissue disease9.7APOE, PSEN1, PSEN2
22cardiomyopathy, dilated, 1u9.7APOE, PSEN1
23demyelinating disease9.7APOE, PSEN1, PSEN2
24central nervous system germ cell tumor9.7APOE, PSEN1, PSEN2
25neurilemmoma9.7APOE, PSEN1, PSEN2

Graphical network of the top 20 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:


Clinical features from OMIM:


HPO human phenotypes related to Alzheimer Disease-4:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dementia HP:0000726
3 alzheimer disease HP:0002511
4 middle age onset HP:0003596
5 sleep-wake cycle disturbance HP:0006979
6 cerebral amyloid angiopathy HP:0011970

Drugs & Therapeutics for Alzheimer Disease-4

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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

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
2 Alzheimer Disease, Type 424

Anatomical Context for Alzheimer Disease-4

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Animal Models for Alzheimer Disease-4 or affiliated genes

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MGI Mouse Phenotypes related to Alzheimer Disease-4:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8APOE, PSEN1, PSEN2
2MP:00053818.7APOE, PSEN1, PSEN2
3MP:00053678.6APOE, PSEN1, PSEN2
4MP:00053918.5APOE, PSEN1, PSEN2
5MP:00053798.5APOE, PSEN1, PSEN2
6MP:00053888.4APOE, PSEN1, PSEN2
7MP:00107718.2APOE, PSEN1, PSEN2

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:

id Symbol AA change Variation ID SNP ID

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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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:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1kinetochoreGO:00007769.6PSEN1, PSEN2
2neuromuscular junctionGO:00315949.5PSEN1, PSEN2
3dendritic shaftGO:00431989.5PSEN1, PSEN2
4ciliary rootletGO:00352539.4PSEN1, PSEN2
5cell cortexGO:00059389.3PSEN1, PSEN2
6lysosomal membraneGO:00057659.2PSEN1, PSEN2
7growth coneGO:00304269.1PSEN1, PSEN2
8membrane raftGO:00451219.0PSEN1, PSEN2
9Z discGO:00300188.7PSEN1, PSEN2
10endoplasmic reticulumGO:00057838.7APOE, PSEN1, PSEN2
11Golgi apparatusGO:00057948.5APOE, PSEN1, PSEN2
12neuronal cell bodyGO:00430258.4APOE, PSEN1, PSEN2

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dendritic spine developmentGO:00609999.7APOE, PSEN1
2myeloid leukocyte differentiationGO:00025739.7PSEN1, PSEN2
3positive regulation of coagulationGO:00508209.7PSEN1, PSEN2
4dorsal/ventral neural tube patterningGO:00219049.6PSEN1, PSEN2
5cell fate specificationGO:00017089.6PSEN1, PSEN2
6regulation of protein bindingGO:00433939.6PSEN1, PSEN2
7somitogenesisGO:00017569.6PSEN1, PSEN2
8protein maturationGO:00516049.6PSEN1, PSEN2
9regulation of epidermal growth factor-activated receptor activityGO:00071769.6PSEN1, PSEN2
10Notch receptor processingGO:00072209.6PSEN1, PSEN2
11locomotionGO:00400119.5PSEN1, PSEN2
12membrane protein ectodomain proteolysisGO:00065099.5PSEN1, PSEN2
13beta-amyloid metabolic processGO:00504359.5PSEN1, PSEN2
14thymus developmentGO:00485389.5PSEN1, PSEN2
15endoplasmic reticulum calcium ion homeostasisGO:00324699.5PSEN1, PSEN2
16T cell activation involved in immune responseGO:00022869.5PSEN1, PSEN2
17brain morphogenesisGO:00488549.5PSEN1, PSEN2
18Notch signaling pathwayGO:00072199.4PSEN1, PSEN2
19T cell receptor signaling pathwayGO:00508529.4PSEN1, PSEN2
20regulation of synaptic plasticityGO:00481679.4PSEN1, PSEN2
21protein processingGO:00164859.4PSEN1, PSEN2
22negative regulation of apoptotic signaling pathwayGO:20012349.4PSEN1, PSEN2
23embryonic limb morphogenesisGO:00303269.3PSEN1, PSEN2
24negative regulation of neuron apoptotic processGO:00435249.3APOE, PSEN1
25memoryGO:00076139.3PSEN1, PSEN2
26amyloid precursor protein catabolic processGO:00429879.3PSEN1, PSEN2
27cellular calcium ion homeostasisGO:00068749.2APOE, PSEN1
28forebrain developmentGO:00309009.2PSEN1, PSEN2
29negative regulation of protein phosphorylationGO:00019339.2PSEN1, PSEN2
30learning or memoryGO:00076119.1PSEN1, PSEN2
31hematopoietic progenitor cell differentiationGO:00022449.0PSEN1, PSEN2
32response to oxidative stressGO:00069799.0APOE, PSEN1
33positive regulation of catalytic activityGO:00430858.7PSEN1, PSEN2

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:00041909.0PSEN1, PSEN2
2endopeptidase activityGO:00041759.0PSEN1, PSEN2

Sources for Alzheimer Disease-4

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet