AD4
MCID: ALZ054
MIFTS: 50

Alzheimer Disease 4 (AD4)

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

Aliases & Classifications for Alzheimer Disease 4

MalaCards integrated aliases for Alzheimer Disease 4:

Name: Alzheimer Disease 4 58 12 54 76 74
Ad4 58 12 54 76
Alzheimer Disease, Type 4 30 6 41
Alzheimer Disease-4 58 13
Alzheimer Disease Familial Type 4 54
Alzheimer Disease, Familial, 4 58
Alzheimer Disease, Familial4 12
Alzheimer Disease Type 4 54
Alzheimer's Disease 4 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
early onset, between 35-60 years
accounts for <2% of patients with alzheimer's disease
see entry for general information on alzheimer disease


HPO:

33
alzheimer disease 4:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110040
OMIM 58 606889
MeSH 45 D000544
MedGen 43 C1847200
UMLS 74 C1847200

Summaries for Alzheimer Disease 4

UniProtKB/Swiss-Prot : 76 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 constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease 4, also known as ad4, is related to early-onset, autosomal dominant alzheimer disease and tardive dyskinesia. An important gene associated with Alzheimer Disease 4 is PSEN2 (Presenilin 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. The drugs Dipivefrin and Ondansetron have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and ovary, and related phenotypes are dementia and sleep-wake cycle disturbance

Disease Ontology : 12 An Alzheimer's disease that has material basis in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.

Description from OMIM: 606889

Related Diseases for Alzheimer Disease 4

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 6
Alzheimer Disease 7 Alzheimer Disease 4
Alzheimer Disease 8 Alzheimer Disease 3
Alzheimer Disease 9 Alzheimer Disease 10
Alzheimer Disease 11 Alzheimer Disease 12
Alzheimer Disease 13 Alzheimer Disease 14
Alzheimer Disease 15 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 31.5 PSEN1 PSEN2
2 tardive dyskinesia 10.0
3 alzheimer disease 5 10.0
4 beta-thalassemia 10.0
5 hepatitis 10.0
6 hepatitis b 10.0
7 thalassemia 10.0
8 alexia 9.9 APOE PSEN1
9 gait apraxia 9.8 APOE PSEN1
10 semantic dementia 9.8 APOE PSEN1
11 kohlschutter-tonz syndrome 9.8 APOE PSEN1
12 aphasia 9.8 APOE PSEN1
13 pick disease of brain 9.8 APOE PSEN1
14 cerebral amyloid angiopathy, cst3-related 9.8 APOE PSEN1
15 vascular dementia 9.8 APOE PSEN1
16 visual agnosia 9.8 PSEN1 PSEN2
17 familial isolated dilated cardiomyopathy 9.8 PSEN1 PSEN2
18 dementia, lewy body 9.8 APOE PSEN1
19 speech and communication disorders 9.7 APOE PSEN1
20 disease of mental health 9.7 APOE PSEN1
21 amyloidosis 9.7 APOE PSEN1
22 nervous system disease 9.6 APOE PSEN1
23 alzheimer disease 9.5 APOE PSEN1 PSEN2
24 alzheimer disease 2 9.5 APOE PSEN1 PSEN2
25 frontotemporal dementia 9.5 APOE PSEN1 PSEN2
26 dementia 9.5 APOE PSEN1 PSEN2
27 central nervous system disease 9.5 APOE PSEN1

Graphical network of the top 20 diseases related to Alzheimer Disease 4:



Diseases related to Alzheimer Disease 4

Symptoms & Phenotypes for Alzheimer Disease 4

Human phenotypes related to Alzheimer Disease 4:

33
# Description HPO Frequency HPO Source Accession
1 dementia 33 HP:0000726
2 sleep-wake cycle disturbance 33 HP:0006979
3 senile plaques 33 HP:0100256
4 alzheimer disease 33 HP:0002511
5 cerebral amyloid angiopathy 33 HP:0011970

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
sleep-wake cycle disturbance
presenile dementia

Laboratory Abnormalities:
neurofibrillary tangles and neuritic senile plaques rare
severe amyloid angiopathy

Clinical features from OMIM:

606889

MGI Mouse Phenotypes related to Alzheimer Disease 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.54 APOE PSEN1 PSEN2
2 integument MP:0010771 9.5 APOE PSEN1 PSEN2
3 limbs/digits/tail MP:0005371 9.43 APOE PSEN1 PSEN2
4 renal/urinary system MP:0005367 9.33 APOE PSEN1 PSEN2
5 respiratory system MP:0005388 9.13 APOE PSEN1 PSEN2
6 vision/eye MP:0005391 8.8 APOE PSEN1 PSEN2

Drugs & Therapeutics for Alzheimer Disease 4

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

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
2
Ondansetron Approved Phase 4 99614-02-5 4595
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8 Xenon Experimental Phase 4 7440-63-3
9 Anti-Inflammatory Agents Phase 4
10 HIV Protease Inhibitors Phase 4
11 Central Nervous System Depressants Phase 4,Phase 3
12 Peripheral Nervous System Agents Phase 4,Phase 3
13 Hormones Phase 4
14
protease inhibitors Phase 4
15 Autonomic Agents Phase 4
16 BB 1101 Phase 4
17 Psychotropic Drugs Phase 4
18 Neurotransmitter Agents Phase 4
19 Anesthetics Phase 4,Phase 3
20 Anesthetics, Inhalation Phase 4
21 Serotonin Agents Phase 4
22 Serotonin Antagonists Phase 4
23 Anti-Anxiety Agents Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25 Hormone Antagonists Phase 4
26 Antipsychotic Agents Phase 4
27 Antiemetics Phase 4
28 Antipruritics Phase 4
29 Platelet Aggregation Inhibitors Phase 4
30 Anesthetics, General Phase 4
31 Dermatologic Agents Phase 4,Phase 3
32 Gastrointestinal Agents Phase 4
33 glucocorticoids Phase 4
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
35 Tranquilizing Agents Phase 4
36 Protective Agents Phase 4
37 Micronutrients Phase 4
38 Vitamins Phase 4
39 Trace Elements Phase 4
40 Nutrients Phase 4
41 Antioxidants Phase 4
42 Immunologic Factors Phase 4,Phase 3,Phase 1
43 Pharmaceutical Solutions Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Thioctic Acid Phase 4
46 Antirheumatic Agents Phase 4,Phase 3
47 Vitamin B9 Phase 4
48 Analgesics Phase 4
49 Folate Phase 4
50 Lipid Regulating Agents Phase 4

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 Terminated NCT00710905 Phase 4
2 Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 Completed NCT00710931 Phase 4
3 Visual Performance After RESTOR Implantation Completed NCT01065064 Phase 4
4 Visual Acuity After the Combined Binocular Implantation of +2.5 Diopters and +3.0 Diopters ReSTOR Multifocal Intraocular Lenses. Completed NCT02314572 Phase 4
5 Depth of Hypnosis and Postoperative Nausea and Vomiting During Xenon Anaesthesia Completed NCT00793663 Phase 4 Xenon;Sevoflurane;Dexamethasone;NaCl;Ondansetron;NaCl
6 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
7 Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA Completed NCT00721253 Phase 4
8 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
9 Effect of Sublingual Immunotherapy in Patients With Atopic Dermatitis Active, not recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
10 Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT00963560 Phase 4
11 Efficacy of γ-linolenic Acid and Thioctic Acid in Patients With Diabetic Neuropathy Completed NCT03914404 Phase 4 γ-linoleic acid and placebo(Thioctic Acid);Thioctic Acid and placebo(γ-linoleic acid)
12 A Long-term Study of Baricitinib (LY3009104) With Topical Corticosteroids in Adults With Moderate to Severe Atopic Dermatitis That Are Not Controlled With Cyclosporine or for Those Who Cannot Take Oral Cyclosporine Because it is Not Medically Advisable Recruiting NCT03428100 Phase 3 Baricitinib;Placebo;Topical corticosteroid
13 TRuE AD1 - An Efficacy and Safety Study of Ruxolitinib Cream in Adolescents and Adults With Atopic Dermatitis Recruiting NCT03745638 Phase 3 Ruxolitinib cream;Vehicle cream
14 A Study of Long-term Baricitinib (LY3009104) Therapy in Atopic Dermatitis Recruiting NCT03334435 Phase 3 Baricitinib;Placebo
15 A Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Active, not recruiting NCT03334396 Phase 3 Baricitinib;Placebo
16 Lidocaine Infusion for Major Abdominal Pediatric Surgery Completed NCT01387568 Phase 3 Lidocaine Infusion;saline Infusion
17 Oral Cladribine in Early Multiple Sclerosis (MS) Completed NCT00725985 Phase 3 Cladribine;Cladribine;Placebo;Rebif® new formulation (RNF)
18 Efficacy and Safety Study of DCB-AD1 in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00154635 Phase 2 DCB-AD1
19 Efficacy and Safety of Orally Administered DS107 in Adult Patients With Moderate to Severe Atopic Dermatitis Not yet recruiting NCT03817190 Phase 2 DS107;Placebo
20 Study of APH-1105 in Patients With Mild to Moderate Alzheimer's Disease Not yet recruiting NCT03806478 Phase 2 APH-1105
21 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
22 Intranasal AD4-H5-VTN as an Adenovirus Vaccine Completed NCT01806909 Phase 1
23 Clinical Trial of HIV Vaccine Combinations in Healthy Men and Women Recruiting NCT03408262 Phase 1
24 Safety and Immunogenicity of Ad4-HIV Envelope Vaccine Vectors in Healthy Volunteers Recruiting NCT03878121 Phase 1
25 Experimental AD4-H5-VTN Vaccine in Healthy Volunteers Completed NCT01443936 Phase 1
26 Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1 Completed NCT01006798 Phase 1
27 A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate Vaccines Completed NCT01979406 Phase 1
28 Study of Safety and Immunogenicity of HIV Vaccines in Healthy Volunteers Completed NCT01989533 Phase 1
29 A Study to Assess the Safety, Pharmacodynamics, and Immunogenicity of PXVX0047 Terminated NCT03160339 Phase 1
30 Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult Participants Active, not recruiting NCT02771730 Phase 1
31 Alsertib (MLN8237) and Brentuximab Vedotin for Relapsed/Refractory CD30-Positive Lymphomas and Solid Malignancies Withdrawn NCT02780011 Phase 1 Brentuximab Vedotin;Alsertib
32 Mechanism of Action Trial of ColoAd1 Completed NCT02053220 Phase 1
33 cAd3-Marburg Vaccine in Healthy Adults Recruiting NCT03475056 Phase 1
34 Safety Study of VM206RY in Subjects With Expression of HER2 in Breast Cancer Completed NCT01895491 Phase 1
35 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Recruiting NCT03056729 Phase 1 BIIB076;Placebo
36 Visual and Economic Profits of ReSTOR® Multifocal Intraocular Lenses (IOL) on Public Health Patients in Spain Unknown status NCT01088282 Not Applicable
37 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
38 Safety and Efficacy of DAV132 in Patients at High-Risk for Clostridium Difficile Infection (CDI) Recruiting NCT03710694 Not Applicable
39 ReSTOR Natural +3.0D Study In Japan Completed NCT00758576 Not Applicable
40 Comparison of Outcomes With Multifocal Intraocular Lenses Recruiting NCT02678962 Not Applicable
41 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
42 Visual Performance of New Apodized Diffractive Multifocal IOL With Addition of Plus Three Completed NCT01027533
43 Visual Outcomes After Cataract Surgery: Multifocal AcrySof® IQ ReSTOR® Intraocular Lenses Versus Monofocal Intraocular Lenses Completed NCT01290068 Not Applicable
44 A Comparison of Visual Function After Bilateral Implantation of Presbyopia Correcting Intraocular Lenses Completed NCT01299155 Not Applicable
45 A Comparison of Visual Function After Bilateral Implantation of Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT01257217 Not Applicable
46 Effects of Visual Arts Training on Dementia Completed NCT02432222 Not Applicable
47 Clinical Study to Evaluate the Visual Performance of Three Multifocal IOLs Completed NCT02990689 Not Applicable
48 Changes of Angle Kappa After Implantation of Multifocal Intraocular Lenses Completed NCT03297086 Not Applicable

Search NIH Clinical Center for Alzheimer Disease 4

Genetic Tests for Alzheimer Disease 4

Genetic tests related to Alzheimer Disease 4:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 4 30 APOE PSEN2

Anatomical Context for Alzheimer Disease 4

MalaCards organs/tissues related to Alzheimer Disease 4:

42
Brain, Breast, Ovary, Heart

Publications for Alzheimer Disease 4

Articles related to Alzheimer Disease 4:

(show all 29)
# Title Authors Year
1
Role of Ad4-binding protein/steroidogenic factor 1 in regulating NADPH production in adrenocortical Y-1 cells. ( 28202838 )
2017
2
N-acetylcysteine amide (AD4) reduces cocaine-induced reinstatement. ( 27469021 )
2016
3
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. ( 24829003 )
2014
4
Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans. ( 21911706 )
2011
5
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. ( 20457965 )
2010
6
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
7
EFNS guidelines for the diagnosis and management of Alzheimer's disease. ( 20831773 )
2010
8
Preventing Alzheimer's disease and cognitive decline. ( 21500874 )
2010
9
N-acetylcysteine amide (AD4) attenuates oxidative stress in beta-thalassemia blood cells. ( 18082636 )
2008
10
A novel PSEN2 mutation associated with a peculiar phenotype. ( 18427071 )
2008
11
Foxl2 up-regulates aromatase gene transcription in a female-specific manner by binding to the promoter as well as interacting with ad4 binding protein/steroidogenic factor 1. ( 17192407 )
2007
12
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. ( 17186461 )
2006
13
Emergence of a new human adenovirus type 4 (Ad4) genotype: identification of a novel inverted terminal repeated (ITR) sequence from majority of Ad4 isolates from US military recruits. ( 16406799 )
2006
14
A novel brain-targeted antioxidant (AD4) attenuates haloperidol-induced abnormal movement in rats: implications for tardive dyskinesia. ( 16340385 )
2005
15
APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. ( 15389756 )
2005
16
Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9. ( 15192080 )
2004
17
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. ( 14623725 )
2003
18
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. ( 12925374 )
2003
19
Atypical dementia associated with a novel presenilin-2 mutation. ( 14681895 )
2003
20
A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. ( 11723295 )
2001
21
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. ( 10631141 )
2000
22
Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome. ( 9813158 )
1998
23
Replication and immunogenicity of Ad7-, Ad4-, and Ad5-hepatitis B virus surface antigen recombinants, with or without a portion of E3 region, in chimpanzees. ( 9139496 )
1997
24
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. ( 9050898 )
1997
25
Expression of Ad4-BP/cytochrome P450 side chain cleavage enzyme and induction of cell death in long-term cultures of human granulosa cells. ( 9238709 )
1996
26
Immunohistochemical localization of Ad4-binding protein with correlation to steroidogenic enzyme expression in cycling human ovaries and sex cord stromal tumors. ( 7673429 )
1995
27
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. ( 7651536 )
1995
28
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. ( 7550356 )
1995
29
A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s. ( 1517227 )
1992

Variations for Alzheimer Disease 4

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

76
# Symbol AA change Variation ID SNP ID
1 PSEN2 p.Asn141Ile VAR_006462 rs63750215
2 PSEN2 p.Met239Val VAR_006463 rs28936379
3 PSEN2 p.Val148Ile VAR_007958 rs63750812
4 PSEN2 p.Thr122Pro VAR_009214 rs63749851
5 PSEN2 p.Met239Ile VAR_009215 rs63749884
6 PSEN2 p.Thr122Arg VAR_081261 rs28936380
7 PSEN2 p.Asn141Tyr VAR_081263 rs61761208

ClinVar genetic disease variations for Alzheimer Disease 4:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN2 NM_000447.2(PSEN2): c.422A> T (p.Asn141Ile) single nucleotide variant Pathogenic rs63750215 GRCh37 Chromosome 1, 227073304: 227073304
2 PSEN2 NM_000447.2(PSEN2): c.422A> T (p.Asn141Ile) single nucleotide variant Pathogenic rs63750215 GRCh38 Chromosome 1, 226885603: 226885603
3 PSEN2 NM_000447.2(PSEN2): c.715A> G (p.Met239Val) single nucleotide variant Pathogenic rs28936379 GRCh37 Chromosome 1, 227076678: 227076678
4 PSEN2 NM_000447.2(PSEN2): c.715A> G (p.Met239Val) single nucleotide variant Pathogenic rs28936379 GRCh38 Chromosome 1, 226888977: 226888977
5 PSEN2 NM_000447.2(PSEN2): c.1316A> C (p.Asp439Ala) single nucleotide variant Uncertain significance rs63750110 GRCh37 Chromosome 1, 227083249: 227083249
6 PSEN2 NM_000447.2(PSEN2): c.1316A> C (p.Asp439Ala) single nucleotide variant Uncertain significance rs63750110 GRCh38 Chromosome 1, 226895548: 226895548
7 PSEN2 NM_000447.2(PSEN2): c.1289C> T (p.Thr430Met) single nucleotide variant Pathogenic rs63750666 GRCh37 Chromosome 1, 227083222: 227083222
8 PSEN2 NM_000447.2(PSEN2): c.1289C> T (p.Thr430Met) single nucleotide variant Pathogenic rs63750666 GRCh38 Chromosome 1, 226895521: 226895521
9 PSEN2 NM_000447.2(PSEN2): c.364A> C (p.Thr122Pro) single nucleotide variant Likely pathogenic rs63749851 GRCh37 Chromosome 1, 227073246: 227073246
10 PSEN2 NM_000447.2(PSEN2): c.364A> C (p.Thr122Pro) single nucleotide variant Likely pathogenic rs63749851 GRCh38 Chromosome 1, 226885545: 226885545
11 PSEN2 NM_000447.2(PSEN2): c.717G> A (p.Met239Ile) single nucleotide variant Pathogenic rs63749884 GRCh37 Chromosome 1, 227076680: 227076680
12 PSEN2 NM_000447.2(PSEN2): c.717G> A (p.Met239Ile) single nucleotide variant Pathogenic rs63749884 GRCh38 Chromosome 1, 226888979: 226888979
13 PSEN2 NM_000447.2(PSEN2): c.365C> G (p.Thr122Arg) single nucleotide variant Pathogenic rs28936380 GRCh37 Chromosome 1, 227073247: 227073247
14 PSEN2 NM_000447.2(PSEN2): c.365C> G (p.Thr122Arg) single nucleotide variant Pathogenic rs28936380 GRCh38 Chromosome 1, 226885546: 226885546
15 PSEN2 NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs63750197 GRCh37 Chromosome 1, 227073271: 227073271
16 PSEN2 NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs63750197 GRCh38 Chromosome 1, 226885570: 226885570
17 PSEN2 NM_000447.2(PSEN2): c.254C> T (p.Ala85Val) single nucleotide variant Pathogenic rs63750048 GRCh37 Chromosome 1, 227071518: 227071518
18 PSEN2 NM_000447.2(PSEN2): c.254C> T (p.Ala85Val) single nucleotide variant Pathogenic rs63750048 GRCh38 Chromosome 1, 226883817: 226883817
19 PSEN1 NG_007386.2: g.73292_77847del4556 deletion Pathogenic GRCh37 Chromosome 14, 73671470: 73676025
20 PSEN1 NG_007386.2: g.73292_77847del4556 deletion Pathogenic GRCh38 Chromosome 14, 73204762: 73209317
21 PSEN1 NM_000021.3(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 GRCh37 Chromosome 14, 73664775: 73664775
22 PSEN1 NM_000021.3(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 GRCh38 Chromosome 14, 73198067: 73198067
23 PSEN2 NM_000447.2(PSEN2): c.185G> A (p.Arg62His) single nucleotide variant Benign/Likely benign rs58973334 GRCh37 Chromosome 1, 227071449: 227071449
24 PSEN2 NM_000447.2(PSEN2): c.185G> A (p.Arg62His) single nucleotide variant Benign/Likely benign rs58973334 GRCh38 Chromosome 1, 226883748: 226883748
25 PSEN2 NM_000447.2(PSEN2): c.205C> G (p.Pro69Ala) single nucleotide variant Uncertain significance rs202133351 GRCh38 Chromosome 1, 226883768: 226883768
26 PSEN2 NM_000447.2(PSEN2): c.205C> G (p.Pro69Ala) single nucleotide variant Uncertain significance rs202133351 GRCh37 Chromosome 1, 227071469: 227071469
27 PSEN2 NM_000447.2(PSEN2): c.129C> T (p.Asn43=) single nucleotide variant Benign/Likely benign rs6759 GRCh38 Chromosome 1, 226882036: 226882036
28 PSEN2 NM_000447.2(PSEN2): c.129C> T (p.Asn43=) single nucleotide variant Benign/Likely benign rs6759 GRCh37 Chromosome 1, 227069737: 227069737
29 PSEN2 NM_000447.2(PSEN2): c.261C> T (p.His87=) single nucleotide variant Benign/Likely benign rs1046240 GRCh38 Chromosome 1, 226883824: 226883824
30 PSEN2 NM_000447.2(PSEN2): c.261C> T (p.His87=) single nucleotide variant Benign/Likely benign rs1046240 GRCh37 Chromosome 1, 227071525: 227071525
31 PSEN2 NM_000447.2(PSEN2): c.903G> T (p.Thr301=) single nucleotide variant Benign/Likely benign rs6426553 GRCh38 Chromosome 1, 226891294: 226891294
32 PSEN2 NM_000447.2(PSEN2): c.903G> T (p.Thr301=) single nucleotide variant Benign/Likely benign rs6426553 GRCh37 Chromosome 1, 227078995: 227078995
33 PSEN2 NM_000447.2(PSEN2): c.886+2_886+4delTGA deletion Likely pathogenic rs1553268799 GRCh37 Chromosome 1, 227077836: 227077838
34 PSEN2 NM_000447.2(PSEN2): c.886+2_886+4delTGA deletion Likely pathogenic rs1553268799 GRCh38 Chromosome 1, 226890135: 226890137
35 PSEN2 NC_000001.11: g.(?_226881888)_(226895599_?)del deletion Pathogenic GRCh38 Chromosome 1, 226881888: 226895599
36 PSEN2 NC_000001.11: g.(?_226881888)_(226895599_?)del deletion Pathogenic GRCh37 Chromosome 1, 227069589: 227083300
37 PSEN2 NM_000447.2(PSEN2): c.132T> A (p.Thr44=) single nucleotide variant Benign rs143227762 GRCh38 Chromosome 1, 226882039: 226882039
38 PSEN2 NM_000447.2(PSEN2): c.132T> A (p.Thr44=) single nucleotide variant Benign rs143227762 GRCh37 Chromosome 1, 227069740: 227069740
39 PSEN2 NM_000447.2(PSEN2): c.1176C> T (p.Phe392=) single nucleotide variant Benign rs115652716 GRCh37 Chromosome 1, 227081811: 227081811
40 PSEN2 NM_000447.2(PSEN2): c.1176C> T (p.Phe392=) single nucleotide variant Benign rs115652716 GRCh38 Chromosome 1, 226894110: 226894110
41 PSEN2 NM_000447.2(PSEN2): c.423C> T (p.Asn141=) single nucleotide variant Benign rs116003409 GRCh38 Chromosome 1, 226885604: 226885604
42 PSEN2 NM_000447.2(PSEN2): c.423C> T (p.Asn141=) single nucleotide variant Benign rs116003409 GRCh37 Chromosome 1, 227073305: 227073305
43 PSEN2 NM_000447.2(PSEN2): c.279G> C (p.Val93=) single nucleotide variant Likely benign rs200350640 GRCh37 Chromosome 1, 227071543: 227071543
44 PSEN2 NM_000447.2(PSEN2): c.279G> C (p.Val93=) single nucleotide variant Likely benign rs200350640 GRCh38 Chromosome 1, 226883842: 226883842
45 PSEN2 NM_000447.2(PSEN2): c.184C> T (p.Arg62Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 226883747: 226883747
46 PSEN2 NM_000447.2(PSEN2): c.184C> T (p.Arg62Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 227071448: 227071448
47 PSEN2 NM_000447.2(PSEN2): c.487C> T (p.Arg163Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 227073369: 227073369
48 PSEN2 NM_000447.2(PSEN2): c.487C> T (p.Arg163Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 226885668: 226885668

Expression for Alzheimer Disease 4

Search GEO for disease gene expression data for Alzheimer Disease 4.

Pathways for Alzheimer Disease 4

GO Terms for Alzheimer Disease 4

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.54 APOE PSEN1 PSEN2
2 Golgi apparatus GO:0005794 9.5 APOE PSEN1 PSEN2
3 cell cortex GO:0005938 9.26 PSEN1 PSEN2
4 kinetochore GO:0000776 9.16 PSEN1 PSEN2
5 integral component of presynaptic membrane GO:0099056 8.96 PSEN1 PSEN2
6 neuronal cell body GO:0043025 8.8 APOE PSEN1 PSEN2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.55 APOE PSEN1
2 negative regulation of neuron apoptotic process GO:0043524 9.54 APOE PSEN1
3 response to oxidative stress GO:0006979 9.52 APOE PSEN1
4 Notch signaling pathway GO:0007219 9.51 PSEN1 PSEN2
5 cellular calcium ion homeostasis GO:0006874 9.49 APOE PSEN1
6 protein processing GO:0016485 9.48 PSEN1 PSEN2
7 membrane protein ectodomain proteolysis GO:0006509 9.46 PSEN1 PSEN2
8 positive regulation of dendritic spine development GO:0060999 9.43 APOE PSEN1
9 amyloid-beta metabolic process GO:0050435 9.4 PSEN1 PSEN2
10 amyloid precursor protein metabolic process GO:0042982 9.37 APOE PSEN1
11 Notch receptor processing GO:0007220 9.32 PSEN1 PSEN2
12 amyloid precursor protein catabolic process GO:0042987 9.26 PSEN1 PSEN2
13 Notch receptor processing, ligand-dependent GO:0035333 9.16 PSEN1 PSEN2
14 positive regulation of amyloid fibril formation GO:1905908 8.96 APOE PSEN1
15 positive regulation of catalytic activity GO:0043085 8.8 APOE PSEN1 PSEN2

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.16 PSEN1 PSEN2
2 aspartic-type endopeptidase activity GO:0004190 8.96 PSEN1 PSEN2
3 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN1 PSEN2

Sources for Alzheimer Disease 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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