AD1
MCID: ALZ063
MIFTS: 29

Alzheimer's Disease 1 (AD1)

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

Aliases & Classifications for Alzheimer's Disease 1

MalaCards integrated aliases for Alzheimer's Disease 1:

Name: Alzheimer's Disease 1 12 15
Alzheimer Disease, Type 1 29 6
Early-Onset Familial Form of Alzheimer Disease 53
Alzheimer Disease Type 1 53
Alzheimer Disease 1 53
Ad1 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0080348

Summaries for Alzheimer's Disease 1

Disease Ontology : 12 An Alzheimer's disease that has material basis in mutation in the gene encoding the amyloid precursor protein on chromosome 21q.

MalaCards based summary : Alzheimer's Disease 1, also known as alzheimer disease, type 1, is related to alzheimer disease and alzheimer disease 2. An important gene associated with Alzheimer's Disease 1 is APP (Amyloid Beta Precursor Protein), 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 Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is integument.

Related Diseases for Alzheimer's Disease 1

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's Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 31.3 APOE APP IDE
2 alzheimer disease 2 29.6 APOE APP IDE
3 early-onset, autosomal dominant alzheimer disease 11.1
4 melanoma 10.0
5 mast cell neoplasm 10.0
6 extracutaneous mastocytoma 10.0
7 senile plaque formation 10.0 APOE APP
8 gait apraxia 10.0 APOE APP
9 familial idiopathic basal ganglia calcification 10.0 APOE APP
10 kohlschutter-tonz syndrome 10.0 APOE APP
11 binswanger's disease 10.0 APOE APP
12 hemorrhage, intracerebral 10.0 APOE APP
13 aphasia 10.0 APOE APP
14 pick disease of brain 10.0 APOE APP
15 cerebral amyloid angiopathy, cst3-related 10.0 APOE APP
16 inclusion body myositis 10.0 APOE APP
17 supranuclear palsy, progressive, 1 10.0 APOE APP
18 vascular dementia 10.0 APOE APP
19 dementia 9.9 APOE APP
20 dementia, lewy body 9.9 APOE APP
21 disease of mental health 9.9 APOE APP
22 amyloidosis 9.9 APOE APP
23 cerebrovascular disease 9.9 APOE APP
24 nervous system disease 9.9 APOE APP
25 central nervous system disease 9.9 APOE APP
26 frontotemporal dementia 9.8 APOE APP
27 hydrocephalus 9.8 APOE APP

Graphical network of the top 20 diseases related to Alzheimer's Disease 1:



Diseases related to Alzheimer's Disease 1

Symptoms & Phenotypes for Alzheimer's Disease 1

MGI Mouse Phenotypes related to Alzheimer's Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 APOE APP IDE

Drugs & Therapeutics for Alzheimer's Disease 1

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

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Ondansetron Approved Phase 4 99614-02-5 4595
6
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
7 Peripheral Nervous System Agents Phase 4,Phase 3
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Xenon Phase 4
10 Anesthetics, General Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 BB 1101 Phase 4
13 Hormones Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Anesthetics Phase 4,Phase 3
17 Central Nervous System Depressants Phase 4,Phase 3
18 Psychotropic Drugs Phase 4
19 HIV Protease Inhibitors Phase 4
20 Anti-Anxiety Agents Phase 4
21 Antipsychotic Agents Phase 4
22 glucocorticoids Phase 4
23 Serotonin Antagonists Phase 4
24 Serotonin Agents Phase 4
25 Hormone Antagonists Phase 4
26 Neurotransmitter Agents Phase 4
27 Autonomic Agents Phase 4
28 Antiemetics Phase 4
29
protease inhibitors Phase 4
30 Antipruritics Phase 4
31 Anesthetics, Inhalation Phase 4
32 Dermatologic Agents Phase 4,Phase 3
33 Tranquilizing Agents Phase 4
34 Gastrointestinal Agents Phase 4
35 Micronutrients Phase 4
36 Antioxidants Phase 4
37 Protective Agents Phase 4
38 Vitamins Phase 4
39 Trace Elements Phase 4
40 Pharmaceutical Solutions Phase 4
41
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
42
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
43
Interferon beta-1a Approved, Investigational Phase 3 145258-61-3 6438354
44
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
45
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
46
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
47 tannic acid Approved Phase 3
48 Diuretics, Potassium Sparing Phase 3
49 Anesthetics, Local Phase 3
50 Sodium Channel Blockers Phase 3

Interventional clinical trials:

(show all 47)
# 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 Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT00963560 Phase 4
9 Effect of Sublingual Immunotherapy in Patients With Atopic Dermatitis Active, not recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
10 Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 Terminated NCT00710905 Phase 4
11 Lidocaine Infusion for Major Abdominal Pediatric Surgery Completed NCT01387568 Phase 3 Lidocaine Infusion;saline Infusion
12 Oral Cladribine in Early Multiple Sclerosis (MS) Completed NCT00725985 Phase 3 Cladribine;Cladribine;Placebo;Rebif® new formulation (RNF)
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 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
15 A Study of Long-term Baricitinib (LY3009104) Therapy in Atopic Dermatitis Recruiting NCT03334435 Phase 3 Baricitinib;Placebo
16 A Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Recruiting NCT03334396 Phase 3 Baricitinib;Placebo
17 Efficacy and Safety Study of DCB-AD1 in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00154635 Phase 2 DCB-AD1
18 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
19 Study of APH-1105 in Patients With Mild to Moderate Alzheimer's Disease Not yet recruiting NCT03806478 Phase 2 APH-1105
20 Efficacy and Safety of Orally Administered DS107 in Adult Patients With Moderate to Severe Atopic Dermatitis Not yet recruiting NCT03817190 Phase 2 DS107;Placebo
21 Intranasal AD4-H5-VTN as an Adenovirus Vaccine Completed NCT01806909 Phase 1
22 Experimental AD4-H5-VTN Vaccine in Healthy Volunteers Completed NCT01443936 Phase 1
23 Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1 Completed NCT01006798 Phase 1
24 A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate Vaccines Completed NCT01979406 Phase 1
25 Mechanism of Action Trial of ColoAd1 Completed NCT02053220 Phase 1
26 Safety Study of VM206RY in Subjects With Expression of HER2 in Breast Cancer Completed NCT01895491 Phase 1
27 Clinical Trial of HIV Vaccine Combinations in Healthy Men and Women Recruiting NCT03408262 Phase 1
28 cAd3-Marburg Vaccine in Healthy Adults Recruiting NCT03475056 Phase 1
29 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Recruiting NCT03056729 Phase 1 BIIB076;Placebo
30 Study of Safety and Immunogenicity of HIV Vaccines in Healthy Volunteers Active, not recruiting NCT01989533 Phase 1
31 Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult Participants Active, not recruiting NCT02771730 Phase 1
32 A Study to Assess the Safety, Pharmacodynamics, and Immunogenicity of PXVX0047 Terminated NCT03160339 Phase 1
33 Alsertib (MLN8237) and Brentuximab Vedotin for Relapsed/Refractory CD30-Positive Lymphomas and Solid Malignancies Withdrawn NCT02780011 Phase 1 Brentuximab Vedotin;Alsertib
34 Visual and Economic Profits of ReSTOR® Multifocal Intraocular Lenses (IOL) on Public Health Patients in Spain Unknown status NCT01088282 Not Applicable
35 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
36 ReSTOR Natural +3.0D Study In Japan Completed NCT00758576 Not Applicable
37 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
38 Visual Performance of New Apodized Diffractive Multifocal IOL With Addition of Plus Three Completed NCT01027533
39 Visual Outcomes After Cataract Surgery: Multifocal AcrySof® IQ ReSTOR® Intraocular Lenses Versus Monofocal Intraocular Lenses Completed NCT01290068 Not Applicable
40 A Comparison of Visual Function After Bilateral Implantation of Presbyopia Correcting Intraocular Lenses Completed NCT01299155 Not Applicable
41 A Comparison of Visual Function After Bilateral Implantation of Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT01257217 Not Applicable
42 Effects of Visual Arts Training on Dementia Completed NCT02432222 Not Applicable
43 Clinical Study to Evaluate the Visual Performance of Three Multifocal IOLs Completed NCT02990689 Not Applicable
44 Changes of Angle Kappa After Implantation of Multifocal Intraocular Lenses Completed NCT03297086 Not Applicable
45 Comparison of Outcomes With Multifocal Intraocular Lenses Recruiting NCT02678962 Not Applicable
46 CPAP to Improve Swallow Function Post Total Laryngectomy Recruiting NCT03328702 Not Applicable
47 Safety and Efficacy of DAV132 in Patients at High-Risk for Clostridium Difficile Infection (CDI) Recruiting NCT03710694 Not Applicable

Search NIH Clinical Center for Alzheimer's Disease 1

Genetic Tests for Alzheimer's Disease 1

Genetic tests related to Alzheimer's Disease 1:

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

Anatomical Context for Alzheimer's Disease 1

MalaCards organs/tissues related to Alzheimer's Disease 1:

41
Brain

Publications for Alzheimer's Disease 1

Variations for Alzheimer's Disease 1

ClinVar genetic disease variations for Alzheimer's Disease 1:

6 (show all 26)
# 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.2137G> A (p.Ala713Thr) single nucleotide variant Uncertain significance rs63750066 GRCh37 Chromosome 21, 27264108: 27264108
12 APP NM_000484.3(APP): c.2137G> A (p.Ala713Thr) single nucleotide variant Uncertain significance rs63750066 GRCh38 Chromosome 21, 25891796: 25891796
13 APP NM_000484.3(APP): c.1995G> C (p.Glu665Asp) single nucleotide variant Uncertain significance rs63750363 GRCh37 Chromosome 21, 27269954: 27269954
14 APP NM_000484.3(APP): c.1995G> C (p.Glu665Asp) single nucleotide variant Uncertain significance rs63750363 GRCh38 Chromosome 21, 25897642: 25897642
15 APP NM_000484.3(APP): c.2146A> G (p.Ile716Val) single nucleotide variant Pathogenic rs63750399 GRCh37 Chromosome 21, 27264099: 27264099
16 APP NM_000484.3(APP): c.2146A> G (p.Ile716Val) single nucleotide variant Pathogenic rs63750399 GRCh38 Chromosome 21, 25891787: 25891787
17 APP NM_000484.3(APP): c.2143G> A (p.Val715Met) single nucleotide variant Likely pathogenic rs63750734 GRCh37 Chromosome 21, 27264102: 27264102
18 APP NM_000484.3(APP): c.2143G> A (p.Val715Met) single nucleotide variant Likely pathogenic rs63750734 GRCh38 Chromosome 21, 25891790: 25891790
19 APP NM_000484.3(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 GRCh37 Chromosome 21, 27264167: 27264167
20 APP NM_000484.3(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 GRCh38 Chromosome 21, 25891855: 25891855
21 APP NM_000484.3(APP): c.2141C> T (p.Thr714Ile) single nucleotide variant Pathogenic rs63750973 GRCh37 Chromosome 21, 27264104: 27264104
22 APP NM_000484.3(APP): c.2141C> T (p.Thr714Ile) single nucleotide variant Pathogenic rs63750973 GRCh38 Chromosome 21, 25891792: 25891792
23 APP NM_000484.3(APP): c.2140A> G (p.Thr714Ala) single nucleotide variant Pathogenic rs63750643 GRCh37 Chromosome 21, 27264105: 27264105
24 APP NM_000484.3(APP): c.2140A> G (p.Thr714Ala) single nucleotide variant Pathogenic rs63750643 GRCh38 Chromosome 21, 25891793: 25891793
25 APP NM_000484.3(APP): c.2149G> C (p.Val717Leu) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096
26 APP NM_000484.3(APP): c.2149G> C (p.Val717Leu) single nucleotide variant Pathogenic rs63750264 GRCh38 Chromosome 21, 25891784: 25891784

Expression for Alzheimer's Disease 1

Search GEO for disease gene expression data for Alzheimer's Disease 1.

Pathways for Alzheimer's Disease 1

GO Terms for Alzheimer's Disease 1

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.16 APOE APP
2 extracellular space GO:0005615 9.13 APOE APP IDE
3 early endosome GO:0005769 8.62 APOE APP

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.43 APOE APP
2 negative regulation of gene expression GO:0010629 9.4 APOE APP
3 regulation of gene expression GO:0010468 9.37 APOE APP
4 cellular protein metabolic process GO:0044267 9.32 APOE APP
5 response to oxidative stress GO:0006979 9.26 APOE APP
6 cholesterol metabolic process GO:0008203 9.16 APOE APP
7 negative regulation of long-term synaptic potentiation GO:1900272 8.96 APOE APP
8 positive regulation of amyloid fibril formation GO:1905908 8.62 APOE APP

Molecular functions related to Alzheimer's Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.96 APOE APP
2 amyloid-beta binding GO:0001540 8.62 APOE IDE

Sources for Alzheimer's Disease 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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