MCID: ALZ002
MIFTS: 25

Alzheimer Disease Type 1

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

Aliases & Classifications for Alzheimer Disease Type 1

MalaCards integrated aliases for Alzheimer Disease Type 1:

Name: Alzheimer Disease Type 1 53 73
Alzheimer Disease, Type 1 29 6
Early-Onset Familial Form of Alzheimer Disease 53
Alzheimer Disease 1 53
Ad1 53

Classifications:



External Ids:

UMLS 73 C2931257

Summaries for Alzheimer Disease Type 1

MalaCards based summary : Alzheimer Disease Type 1, also known as alzheimer disease, type 1, is related to alzheimer disease and early-onset, autosomal dominant alzheimer disease. An important gene associated with Alzheimer Disease Type 1 is APP (Amyloid Beta Precursor Protein). The drugs Dipivefrin and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include breast.

Related Diseases for Alzheimer Disease Type 1

Symptoms & Phenotypes for Alzheimer Disease Type 1

Drugs & Therapeutics for Alzheimer Disease Type 1

Drugs for Alzheimer Disease Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Ondansetron Approved Phase 4 99614-02-5 4595
5
Sorbitol Approved Phase 4 50-70-4 5780
6
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
7 Xenon Phase 4
8 Dexamethasone acetate Phase 4 1177-87-3
9 glucocorticoids Phase 4
10
protease inhibitors Phase 4
11 Central Nervous System Depressants Phase 4,Phase 3
12 Micronutrients Phase 4
13 Serotonin Agents Phase 4
14 Serotonin Antagonists Phase 4
15 Gastrointestinal Agents Phase 4
16 Neurotransmitter Agents Phase 4
17 HIV Protease Inhibitors Phase 4
18 Anesthetics Phase 4,Phase 3
19 Hormone Antagonists Phase 4
20 Anesthetics, General Phase 4
21 Dermatologic Agents Phase 4,Phase 3
22 Anesthetics, Inhalation Phase 4
23 Trace Elements Phase 4
24 Tranquilizing Agents Phase 4
25 Hormones Phase 4
26 Anti-Anxiety Agents Phase 4
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
28 Peripheral Nervous System Agents Phase 4,Phase 3
29 Vitamins Phase 4
30 Platelet Aggregation Inhibitors Phase 4
31 Antiemetics Phase 4
32 Antioxidants Phase 4
33 Protective Agents Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Antipruritics Phase 4
36 Antipsychotic Agents Phase 4
37 Psychotropic Drugs Phase 4
38 BB 1101 Phase 4
39 Autonomic Agents Phase 4
40 Antineoplastic Agents, Hormonal Phase 4
41 Pharmaceutical Solutions Phase 4
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
44
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
45
Interferon beta-1a Approved, Investigational Phase 3 145258-61-3 6438354
46
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
47
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
48 tannic acid Approved, Nutraceutical Phase 3
49 Sodium Channel Blockers Phase 3
50 Anesthetics, Local Phase 3

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 Completed NCT00710931 Phase 4
2 Visual Performance After RESTOR Implantation Completed NCT01065064 Phase 4
3 Visual Acuity After the Combined Binocular Implantation of +2.5 Diopters and +3.0 Diopters ReSTOR Multifocal Intraocular Lenses. Completed NCT02314572 Phase 4
4 Depth of Hypnosis and Postoperative Nausea and Vomiting During Xenon Anaesthesia Completed NCT00793663 Phase 4 Xenon;Sevoflurane;Dexamethasone;NaCl;Ondansetron;NaCl
5 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
6 Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA Completed NCT00721253 Phase 4
7 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
8 Clinical Study to Evaluate the Visual Performance of Three Multifocal IOLs Completed NCT02990689 Phase 4
9 Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT00963560 Phase 4
10 Comparison of Outcomes With Multifocal Intraocular Lenses Recruiting NCT02678962 Phase 4
11 Effect of Sublingual Immunotherapy in Patients With Atopic Dermatitis Recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
12 Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 Terminated NCT00710905 Phase 4
13 Lidocaine Infusion for Major Abdominal Pediatric Surgery Completed NCT01387568 Phase 3 Lidocaine Infusion;saline Infusion
14 Oral Cladribine in Early Multiple Sclerosis (MS) Completed NCT00725985 Phase 3 Cladribine;Cladribine;Placebo;Rebif® new formulation (RNF)
15 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
16 A Study of Long-term Baricitinib (LY3009104) Therapy in Atopic Dermatitis Recruiting NCT03334435 Phase 3 Baricitinib;Placebo
17 A Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Recruiting NCT03334396 Phase 3 Baricitinib;Placebo
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 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
20 Intranasal AD4-H5-VTN as an Adenovirus Vaccine Completed NCT01806909 Phase 1
21 Experimental AD4-H5-VTN Vaccine in Healthy Volunteers Completed NCT01443936 Phase 1
22 Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1 Completed NCT01006798 Phase 1
23 A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate Vaccines Completed NCT01979406 Phase 1
24 Mechanism of Action Trial of ColoAd1 Completed NCT02053220 Phase 1
25 Safety Study of VM206RY in Subjects With Expression of HER2 in Breast Cancer Completed NCT01895491 Phase 1
26 Clinical Trial of HIV Vaccine Combinations in Healthy Men and Women Recruiting NCT03408262 Phase 1
27 Study of Safety and Immunogenicity of HIV Vaccines in Healthy Volunteers Active, not recruiting NCT01989533 Phase 1
28 Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult Participants Active, not recruiting NCT02771730 Phase 1
29 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Active, not recruiting NCT03056729 Phase 1 BIIB076;Placebo
30 Alsertib (MLN8237) and Brentuximab Vedotin for Relapsed/Refractory CD30-Positive Lymphomas and Solid Malignancies Not yet recruiting NCT02780011 Phase 1 Brentuximab Vedotin;Alsertib
31 cAd3-Marburg Vaccine in Healthy Adults Not yet recruiting NCT03475056 Phase 1
32 A Study to Assess the Safety, Pharmacodynamics, and Immunogenicity of PXVX0047 Terminated NCT03160339 Phase 1
33 Visual and Economic Profits of ReSTOR® Multifocal Intraocular Lenses (IOL) on Public Health Patients in Spain Unknown status NCT01088282 Not Applicable
34 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
35 ReSTOR Natural +3.0D Study In Japan Completed NCT00758576 Not Applicable
36 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
37 Visual Performance of New Apodized Diffractive Multifocal IOL With Addition of Plus Three Completed NCT01027533
38 Visual Outcomes After Cataract Surgery: Multifocal AcrySof® IQ ReSTOR® Intraocular Lenses Versus Monofocal Intraocular Lenses Completed NCT01290068 Not Applicable
39 A Comparison of Visual Function After Bilateral Implantation of Presbyopia Correcting Intraocular Lenses Completed NCT01299155 Not Applicable
40 A Comparison of Visual Function After Bilateral Implantation of Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT01257217 Not Applicable
41 Effects of Visual Arts Training on Dementia Completed NCT02432222 Not Applicable
42 Changes of Angle Kappa After Implantation of Multifocal Intraocular Lenses Completed NCT03297086 Not Applicable
43 Utilization of Negative Pressure Suction to Reduce Aspiration in Oropharyngeal Dysphagia Recruiting NCT03368079 Not Applicable
44 CPAP to Improve Swallow Function Post Total Laryngectomy Recruiting NCT03328702 Not Applicable

Search NIH Clinical Center for Alzheimer Disease Type 1

Genetic Tests for Alzheimer Disease Type 1

Genetic tests related to Alzheimer Disease Type 1:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 1 29

Anatomical Context for Alzheimer Disease Type 1

MalaCards organs/tissues related to Alzheimer Disease Type 1:

41
Breast

Publications for Alzheimer Disease Type 1

Variations for Alzheimer Disease Type 1

ClinVar genetic disease variations for Alzheimer Disease Type 1:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 APP NM_000484.3(APP): c.2149G> A (p.Val717Ile) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096
2 APP NM_000484.3(APP): c.2149G> A (p.Val717Ile) single nucleotide variant Pathogenic rs63750264 GRCh38 Chromosome 21, 25891784: 25891784
3 APP NM_000484.3(APP): c.2149G> T (p.Val717Phe) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096
4 APP NM_000484.3(APP): c.2149G> T (p.Val717Phe) single nucleotide variant Pathogenic rs63750264 GRCh38 Chromosome 21, 25891784: 25891784
5 APP NM_000484.3(APP): c.2150T> G (p.Val717Gly) single nucleotide variant Pathogenic rs63749964 GRCh37 Chromosome 21, 27264095: 27264095
6 APP NM_000484.3(APP): c.2150T> G (p.Val717Gly) single nucleotide variant Pathogenic rs63749964 GRCh38 Chromosome 21, 25891783: 25891783
7 APP NM_000484.3(APP): c.2075C> G (p.Ala692Gly) single nucleotide variant Pathogenic rs63750671 GRCh37 Chromosome 21, 27264170: 27264170
8 APP NM_000484.3(APP): c.2075C> G (p.Ala692Gly) single nucleotide variant Pathogenic rs63750671 GRCh38 Chromosome 21, 25891858: 25891858
9 APP NM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu) indel Pathogenic rs281865161 GRCh37 Chromosome 21, 27269938: 27269939
10 APP NM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu) indel Pathogenic rs281865161 GRCh38 Chromosome 21, 25897626: 25897627
11 APP NM_000484.3(APP): c.2146A> G (p.Ile716Val) single nucleotide variant Pathogenic rs63750399 GRCh37 Chromosome 21, 27264099: 27264099
12 APP NM_000484.3(APP): c.2146A> G (p.Ile716Val) single nucleotide variant Pathogenic rs63750399 GRCh38 Chromosome 21, 25891787: 25891787
13 APP NM_000484.3(APP): c.2143G> A (p.Val715Met) single nucleotide variant Likely pathogenic rs63750734 GRCh37 Chromosome 21, 27264102: 27264102
14 APP NM_000484.3(APP): c.2143G> A (p.Val715Met) single nucleotide variant Likely pathogenic rs63750734 GRCh38 Chromosome 21, 25891790: 25891790
15 APP NM_000484.3(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 GRCh37 Chromosome 21, 27264167: 27264167
16 APP NM_000484.3(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 GRCh38 Chromosome 21, 25891855: 25891855
17 APP NM_000484.3(APP): c.2141C> T (p.Thr714Ile) single nucleotide variant Pathogenic rs63750973 GRCh37 Chromosome 21, 27264104: 27264104
18 APP NM_000484.3(APP): c.2141C> T (p.Thr714Ile) single nucleotide variant Pathogenic rs63750973 GRCh38 Chromosome 21, 25891792: 25891792
19 APP NM_000484.3(APP): c.2140A> G (p.Thr714Ala) single nucleotide variant Pathogenic rs63750643 GRCh37 Chromosome 21, 27264105: 27264105
20 APP NM_000484.3(APP): c.2140A> G (p.Thr714Ala) single nucleotide variant Pathogenic rs63750643 GRCh38 Chromosome 21, 25891793: 25891793
21 APP NM_000484.3(APP): c.2149G> C (p.Val717Leu) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096
22 APP NM_000484.3(APP): c.2149G> C (p.Val717Leu) single nucleotide variant Pathogenic rs63750264 GRCh38 Chromosome 21, 25891784: 25891784

Expression for Alzheimer Disease Type 1

Search GEO for disease gene expression data for Alzheimer Disease Type 1.

Pathways for Alzheimer Disease Type 1

GO Terms for Alzheimer Disease Type 1

Cellular components related to Alzheimer Disease Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.16 APP INS
2 Golgi lumen GO:0005796 8.96 APP INS
3 endosome lumen GO:0031904 8.62 APP INS

Biological processes related to Alzheimer Disease Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.37 APP INS
2 regulation of gene expression GO:0010468 9.32 APP INS
3 cellular protein metabolic process GO:0044267 9.26 APP INS
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.16 APP INS
5 positive regulation of long-term synaptic potentiation GO:1900273 8.96 APP INS
6 neuron projection maintenance GO:1990535 8.62 APP INS

Sources for Alzheimer Disease Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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