MCID: ALZ032
MIFTS: 33

Alzheimer Disease 18

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

Aliases & Classifications for Alzheimer Disease 18

MalaCards integrated aliases for Alzheimer Disease 18:

Name: Alzheimer Disease 18 54 12 71 29 69
Ad18 12 71
Alzheimer Disease 18 Late-Onset 71
Alzheimer's Disease 18 12

Classifications:



External Ids:

OMIM 54 615590
Disease Ontology 12 DOID:0110050
MeSH 42 D000544

Summaries for Alzheimer Disease 18

UniProtKB/Swiss-Prot : 71 Alzheimer disease 18: A late-onset form of Alzheimer disease, 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 18, also known as ad18, is related to hypersensitivity syndrome, carbamazepine-induced and hepatic lipase deficiency. An important gene associated with Alzheimer Disease 18 is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways are Degradation of the extracellular matrix and Notch signaling pathway (KEGG). The drugs Donepezil and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

Disease Ontology : 12 An Alzheimer's disease that has material basis in a mutation in the ADAM10 gene on chromosome 15q21.

Description from OMIM: 615590

Related Diseases for Alzheimer Disease 18

Symptoms & Phenotypes for Alzheimer Disease 18

Clinical features from OMIM:

615590

Drugs & Therapeutics for Alzheimer Disease 18

Drugs for Alzheimer Disease 18 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 135)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1 120014-06-4 3152
2
Rivastigmine Approved, Investigational Phase 4,Phase 3 123441-03-2 77991
3
Galantamine Approved Phase 4 357-70-0 9651
4
Dopamine Approved Phase 4,Phase 1,Phase 2,Early Phase 1 51-61-6, 62-31-7 681
5
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
6
Citalopram Approved Phase 4,Phase 1 59729-33-8 2771
7
Norepinephrine Approved Phase 4,Phase 1 51-41-2 439260
8
Corticosterone Experimental Phase 4,Phase 2,Phase 1,Early Phase 1 50-22-6 5753
9 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Nootropic Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Neuroprotective Agents Phase 4,Phase 2,Phase 3
15 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
17 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1,Early Phase 1
18 Autonomic Agents Phase 4,Phase 2,Phase 1,Early Phase 1
19 Antiparkinson Agents Phase 4,Phase 1
20 Dopamine Agents Phase 4,Phase 1,Phase 2,Early Phase 1
21 Excitatory Amino Acid Antagonists Phase 4,Phase 2
22 Excitatory Amino Acids Phase 4,Phase 2
23 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
24 Antidepressive Agents Phase 4,Phase 1
25 Antidepressive Agents, Second-Generation Phase 4,Phase 1
26 Neurotransmitter Uptake Inhibitors Phase 4,Phase 1
27 Psychotropic Drugs Phase 4,Phase 1
28
Serotonin Phase 4,Phase 1 50-67-9 5202
29 Serotonin Agents Phase 4,Phase 1
30 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4,Phase 1
31 Serotonin Uptake Inhibitors Phase 4,Phase 1
32 Venlafaxine Hydrochloride Phase 4,Phase 1
33 Central Nervous System Depressants Phase 4,Phase 1
34 Antipsychotic Agents Phase 4
35 sultopride Phase 4
36 Tranquilizing Agents Phase 4
37
Benzocaine Approved Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
38
Nifedipine Approved Phase 3 21829-25-4 4485
39
Nilvadipine Approved Phase 3 75530-68-6 4494
40
Flurbiprofen Approved, Investigational Phase 3 5104-49-4 3394
41
Zinc Approved Phase 2, Phase 3 7440-66-6 32051 23994
42 tannic acid Approved, Nutraceutical Phase 3,Phase 2,Phase 1
43
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
44 Anticonvulsants Phase 3,Phase 2
45 GABA Agents Phase 3
46 GABA Agonists Phase 3
47 Tramiprosate Phase 3 3687-18-1
48 Analgesics Phase 3,Phase 2
49 Analgesics, Non-Narcotic Phase 3,Phase 2
50 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 262)

id Name Status NCT ID Phase Drugs
1 An Observational Study of the Safety and Effectiveness of Galantamine in the Treatment of Patients With Alzheimer's Disease Over an 18-month Period Completed NCT00299676 Phase 4 Galantamine (Reminyl)
2 Interventional, Randomised, Double-blind, Study to Evaluate the Safety and Tolerability of Once Daily Versus Twice Daily Memantine Treatment in Patients With Dementia of Alzheimer's Type and Mini Mental State Examination (MMSE)Range 5 - 18 Completed NCT02553928 Phase 4 Memantine (once daily);Memantine (twice daily)
3 Effectiveness of Florbetapir (18F) PET Imaging in Changing Patient Management and the Relationship Between Scan Status and Cognitive Decline Completed NCT01703702 Phase 4 florbetapir (18F)
4 Impact of FBB PET Amyloid Imaging in Change of Diagnosis in Patients With AD Completed NCT02681172 Phase 4 Neuraceq (florbetaben 18F)
5 The Feasibility of Florbetapir Quantitation Completed NCT01946243 Phase 4 Florbetapir F18
6 The Feasibility of Florbetapir Quantitation in Europe Completed NCT02107599 Phase 4 Florbetapir (18F)
7 Evaluation of Reader Training Processes Completed NCT02051790 Phase 4 florbetapir F 18
8 Efficacy, Safety and Tolerability of Rivastigmine Patch in Patients With Mild to Moderate Alzheimer's Disease Switched From Cholinesterase Inhibitors Completed NCT01529619 Phase 4 Rivastigmine transdermal patch
9 Memantine and Comprehensive, Individualized Management of Alzheimer's Disease and Caregiver Training Completed NCT00120874 Phase 4 Memantine
10 Memantine and Changes of Biological Markers and Brain PET Imaging in Alzheimer's Disease Completed NCT00800709 Phase 4 Memantine
11 A 24 Week, Multicenter, Open, Evaluation of the Clinical Effectiveness of the Once-daily 10 cm^2 Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease (EXTRA) Completed NCT00622713 Phase 4 Rivastigmine transdermal patch
12 Combination Treatment Study for Memory Impairment and Depression Completed NCT01658228 Phase 4 Donepezil;Placebo
13 A Study of EGb 761® (Tanakan®) in Dementia of Alzheimer Type Onset in Patients Suffering From Memory Complaints Completed NCT00276510 Phase 4 EGb 761® (Tanakan®)
14 Study to Evaluate the Efficacy, Safety and Tolerability of Rivastigmine Patch in Patients With Mild to Moderate Alzheimer's Disease Recruiting NCT02703636 Phase 4 Rivastigmine Patch
15 Effects of Brain Beta-Amyloid on Postoperative Cognition Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
16 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
17 Optimisation of Antipsychotic Drug Use in Older People Terminated NCT01454453 Phase 4 Patients- dose titration
18 The CIRCADIAN Study: Evaluation of Modulating Effect of Galantamine on Circadian Rhythm in Patients With Mild to Moderate Alzheimer's Disease Terminated NCT01181921 Phase 4 Galantamine
19 Evaluation of 3APS in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00088673 Phase 3 3APS
20 Donepezil Treatment of Psychotic Symptoms in Dementia Patients Unknown status NCT00190021 Phase 3 donepezil
21 Assess the Prognostic Usefulness of Flutemetamol (18F) Injection for Identifying Subjects With Amnestic Mild Cognitive Impairment Who Will Convert to Clinically Probable Alzheimer's Disease Completed NCT01028053 Phase 3 Flutemetamol (18F) Injection
22 A Phase II Trial of Florbetapir (18F) Positron Emission Tomography (PET) Imaging in Japan of Healthy Volunteers, Patients With Mild Cognitive Impairment (MCI) and Patients With Alzheimer's Disease (AD) Completed NCT01662882 Phase 2, Phase 3 florbetapir (18F)
23 Analysis of 18F-AV-1451 PET Imaging in Cognitively Healthy, MCI and AD Subjects Completed NCT02016560 Phase 2, Phase 3 florbetapir F 18;18F-AV-1451
24 18-Month Study of the Efficacy of Xaliproden (SR57746A) in Patients With Mild-to-Moderate Dementia of the Alzheimer's Type Completed NCT00103649 Phase 3 xaliproden (SR57746A)
25 Phase III Study of the Correlation Between Florbetapir F18 PET Imaging and Amyloid Pathology in the Brain Completed NCT00857415 Phase 3 florbetapir F 18
26 Autopsy Follow-up of Subjects Previously Imaged With Florbetapir F 18 (18F-AV-45) PET in Trial 18F-AV-45-A07 Completed NCT01447719 Phase 3 florbetapir F 18
27 Effectiveness of an Electronic Training Program for Orienting and Interpreting [18F]Flutemetamol Positron Emission Tomography (PET) Images Completed NCT01672827 Phase 3 [18F]Flutemetamol
28 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild Alzheimer's Disease Completed NCT01689233 Phase 3 TRx0237 200 mg/day;Placebo
29 Study of Xaliproden (SR57746A) in Patients With Mild-to-Moderate Dementia of the Alzheimer's Type Completed NCT00104013 Phase 3 xaliproden (SR57746A)
30 A Phase 3 Study Evaluating Safety and Effectiveness of Immune Globulin Intravenous (IGIV 10%) for the Treatment of Mild-to-Moderate Alzheimer´s Disease Completed NCT00818662 Phase 3
31 Sunphenon EGCg (Epigallocatechin-Gallate) in the Early Stage of Alzheimer´s Disease Completed NCT00951834 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
32 Safety and Efficacy Study Evaluating Dimebon in Patients With Mild to Moderate Alzheimer's Disease on Donepezil Completed NCT00829374 Phase 3 Dimebon;Dimebon;Placebo comparator
33 Potential of Florbetapir F 18 PET to Inform Clinical Diagnosis and Management of Patients With Progressive Cognitive Decline Completed NCT01400425 Phase 3 florbetapir F 18
34 DHA (Docosahexaenoic Acid), an Omega 3 Fatty Acid, in Slowing the Progression of Alzheimer's Disease Completed NCT00440050 Phase 3 DHA (Docosahexaenoic Acid);Placebo
35 Positron Emission Tomography (PET) Amyloid Imaging of the Brain in Healthy Young Adult Subjects Completed NCT01265394 Phase 3 [18F] Flutemetamol
36 A Phase III Trial of Nilvadipine to Treat Alzheimer's Disease Completed NCT02017340 Phase 3 Nilvadipine;Placebo
37 Randomized, Double-blind Study to Evaluate the Tolerability of 2 Different Titration Methods of Rivastigmine Patch in AD Patients (MMSE 10-20) Completed NCT01614886 Phase 3 Active Comparator;ENA713
38 Efficacy Study of MPC-7869 to Treat Patients With Alzheimer's Completed NCT00105547 Phase 3 MPC-7869;MPC-7869
39 Safety of Switching From Donepezil to Rivastigmine Patch in Patients With Probable Alzheimer's Disease Completed NCT00428389 Phase 3 Rivastigmine 5 cm^2 transdermal patch;Rivastigmine 10 cm^2 transdermal patch
40 Efficacy and Safety of Rivastigmine Transdermal Patch in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00423085 Phase 3 Rivastigmine transdermal patch;Placebo
41 A 24-weeks, Multi-center, Randomized, Double-blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Donepezil Hydrochloride in Chinese Subjects With Severe Alzheimer's Disease Completed NCT01404169 Phase 3 E2020;Placebo
42 Effects of LY450139, on the Progression of Alzheimer's Disease as Compared With Placebo Completed NCT00762411 Phase 3 LY450139;Placebo
43 Effect of LY450139 on the Long Term Progression of Alzheimer's Disease Completed NCT00594568 Phase 3 LY450139;Placebo
44 Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study Recruiting NCT02362880 Phase 2, Phase 3
45 18F-AV-1451 Autopsy Study Recruiting NCT02516046 Phase 3 18F-AV-1451
46 Longitudinal Study of Brain Amyloid imaGing in MEMENTO Recruiting NCT02164643 Phase 3 Flutemetamol (18F);Florbetapir (18F)
47 An Efficacy and Safety Study of Lanabecestat (LY3314814) in Early Alzheimer's Disease Recruiting NCT02245737 Phase 2, Phase 3 Lanabecestat;Placebo
48 A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of [18F]NAV4694 PET for Detection of Cerebral Beta-Amyloid When Compared With Postmortem Histopathology Active, not recruiting NCT01886820 Phase 3 [18F]NAV4694
49 Evaluation of the Efficacy and Safety of Azeliragon (TTP488) in Patients With Mild Alzheimer's Disease Active, not recruiting NCT02080364 Phase 3 Azeliragon;Placebo
50 The Study of Nasal Insulin in the Fight Against Forgetfulness (SNIFF) Active, not recruiting NCT01767909 Phase 2, Phase 3 Insulin (Humulin® R U-100);Placebo

Search NIH Clinical Center for Alzheimer Disease 18

Genetic Tests for Alzheimer Disease 18

Genetic tests related to Alzheimer Disease 18:

id Genetic test Affiliating Genes
1 Alzheimer Disease 18 29

Anatomical Context for Alzheimer Disease 18

MalaCards organs/tissues related to Alzheimer Disease 18:

39
Brain, Testes

Publications for Alzheimer Disease 18

Variations for Alzheimer Disease 18

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 18:

71
id Symbol AA change Variation ID SNP ID
1 ADAM10 p.Gln170His VAR_070908 rs61751103
2 ADAM10 p.Arg181Gly VAR_070909 rs145518263

ClinVar genetic disease variations for Alzheimer Disease 18:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ADAM10 ADAM10, GLN170HIS undetermined variant risk factor
2 ADAM10 NM_001110.3(ADAM10): c.541A> G (p.Arg181Gly) single nucleotide variant risk factor rs145518263 GRCh37 Chromosome 15, 58957340: 58957340

Expression for Alzheimer Disease 18

Search GEO for disease gene expression data for Alzheimer Disease 18.

Pathways for Alzheimer Disease 18

GO Terms for Alzheimer Disease 18

Cellular components related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.96 ADAM10 PSEN1
2 cell surface GO:0009986 8.62 ADAM10 PSEN1

Biological processes related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.4 ADAM10 PSEN1
2 neutrophil degranulation GO:0043312 9.37 ADAM10 PSEN1
3 cellular protein metabolic process GO:0044267 9.32 ADAM10 PSEN1
4 Notch signaling pathway GO:0007219 9.26 ADAM10 PSEN1
5 protein processing GO:0016485 9.16 ADAM10 PSEN1
6 membrane protein ectodomain proteolysis GO:0006509 8.96 ADAM10 PSEN1
7 Notch receptor processing GO:0007220 8.62 ADAM10 PSEN1

Molecular functions related to Alzheimer Disease 18 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 8.96 ADAM10 PSEN1
2 endopeptidase activity GO:0004175 8.62 ADAM10 PSEN1

Sources for Alzheimer Disease 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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