MCID: PRK051
MIFTS: 32

Parkinson Disease 18

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

Aliases & Classifications for Parkinson Disease 18

MalaCards integrated aliases for Parkinson Disease 18:

Name: Parkinson Disease 18 54 71 29 13 69
Parkinson Disease 18, Autosomal Dominant, Susceptibility to 71
Parkinson Disease 18 Autosomal Dominant 71
Park18 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
insidious onset
late-adult onset (range 50 to 80 years)
long duration
favorable response to l-dopa treatment


HPO:

32
parkinson disease 18:
Onset and clinical course insidious onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Parkinson Disease 18

UniProtKB/Swiss-Prot : 71 Parkinson disease 18: An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 18, also known as parkinson disease 18, autosomal dominant, susceptibility to, is related to eif4g1-related parkinson disease, and has symptoms including parkinsonism, bradykinesia and rigidity. An important gene associated with Parkinson Disease 18 is EIF4G1 (Eukaryotic Translation Initiation Factor 4 Gamma 1). The drugs Dopamine and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex.

OMIM : 54
Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. (614251)

Related Diseases for Parkinson Disease 18

Symptoms & Phenotypes for Parkinson Disease 18

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
parkinsonism
bradykinesia
rigidity
resting tremor
lewy bodies


Clinical features from OMIM:

614251

Human phenotypes related to Parkinson Disease 18:

32
id Description HPO Frequency HPO Source Accession
1 parkinsonism 32 HP:0001300
2 bradykinesia 32 HP:0002067
3 rigidity 32 HP:0002063
4 resting tremor 32 HP:0002322
5 lewy bodies 32 HP:0100315

UMLS symptoms related to Parkinson Disease 18:


muscle rigidity, bradykinesia

Drugs & Therapeutics for Parkinson Disease 18

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

(show top 50) (show all 131)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
3
Levodopa Approved Phase 4,Phase 3,Phase 1,Phase 2 59-92-7 6047
4
Rasagiline Approved Phase 4,Phase 3 136236-51-6 3052776
5 Piracetam Approved Phase 4 7491-74-9
6
Pramipexole Approved, Investigational Phase 4,Phase 3 104632-26-0 59868 119570
7
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
8 Etiracetam Investigational Phase 4 33996-58-6
9 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Protective Agents Phase 4,Phase 3,Early Phase 1
13 Nootropic Agents Phase 4,Phase 3,Phase 2
14 N 0437 Phase 4,Phase 1
15 Cholinergic Agents Phase 4,Phase 3,Phase 2
16 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2
17 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Monoamine Oxidase Inhibitors Phase 4,Phase 3
19 Neuroprotective Agents Phase 4,Phase 3
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Anticonvulsants Phase 4,Phase 1,Phase 2
22 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Antioxidants Phase 4,Phase 3
24 Adrenergic Agents Phase 4,Phase 1,Phase 2
25 Adrenergic Agonists Phase 4,Phase 1,Phase 2
26 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
27 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2
28
Ropinirole Approved, Investigational Phase 3 91374-20-8, 91374-21-9 5095 497540
29
Carbidopa Approved Phase 3,Phase 1,Phase 2 28860-95-9 34359 38101
30
Amantadine Approved Phase 3,Phase 2 768-94-5 2130
31
Entacapone Approved, Investigational Phase 3,Phase 1,Phase 2 130929-57-6 5281081
32 Dihydroxyphenylalanine Phase 3,Phase 2
33 Cholinergic Antagonists Phase 3
34 Adjuvants, Immunologic Phase 3
35 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 1,Phase 2
36 Carbidopa, levodopa drug combination Phase 3,Phase 1,Phase 2
37 Catechol O-Methyltransferase Inhibitors Phase 3,Phase 1,Phase 2
38 Catechol Nutraceutical Phase 3,Phase 1,Phase 2
39
Domperidone Approved, Investigational, Vet_approved Phase 2 57808-66-9 3151
40
Alginic acid Approved, Experimental Phase 1, Phase 2 9005-32-7
41
Cocaine Approved, Illicit Phase 1, Phase 2 50-36-2 5760 446220
42
Lorazepam Approved Phase 1, Phase 2 846-49-1 3958
43
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
44
Simvastatin Approved Phase 2 79902-63-9 54454
45
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
46
Droxidopa Approved, Investigational Phase 1, Phase 2 23651-95-8 443940
47
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
48 Fluorodeoxyglucose F18 Phase 2
49 Radiopharmaceuticals Phase 2,Early Phase 1
50 Antiemetics Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 148)

id Name Status NCT ID Phase Drugs
1 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4 Rasagiline;Placebo
2 Dopaminergic Modulation of Declarative Memory Completed NCT03151460 Phase 4 Dopamine Agent
3 Efficacy and Safety of Levetiracetam Versus Placebo on Levodopa-induced Dyskinesias in Advanced Parkinson's Disease Completed NCT00307450 Phase 4 Levetiracetam
4 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
5 A Randomized, Double-blind, Active (Pramipexole 0.5 mg Tid) and Placebo Controlled, Study of Pramipexole Given 0.5 mg and 0.75 mg Bid Over 12-week Treatment in Early Parkinson's Disease (PD) Patients Completed NCT00402233 Phase 4 Pramipexole;Placebo
6 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
7 Effect of Acetylcholinesterase Inhibitors on the Gait of the Patients With Parkinson Disease Not yet recruiting NCT03011476 Phase 4 Donepezil;Placebos
8 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
9 Donepezil Treatment of Psychotic Symptoms in Dementia Patients Unknown status NCT00190021 Phase 3 donepezil
10 Efficacy and Safety of F-18 FPCIT PET in Parkinson's Disease and Essential Tremor Patients Completed NCT00468078 Phase 3 F-18 FPCIT
11 Pramipexole Extended Release Versus Pramipexole Immediate Release for 18 Weeks in Chinese Parkinson's Disease (PD) Patients Completed NCT01191944 Phase 3 pramipexole immediate release tablet;pramipexole extended release tablet
12 A Study to Evaluate the Efficacy of 18 to 24mg/Day Ropinirole Controlled Release (CR) Tablets in Early and Advanced Parkinson's Disease (PD) Patients. Completed NCT01929317 Phase 3 Ropinirole CR 2mg tablet;Ropinirole CR 8mg tablet;Ropinirole CR matching Placebo tablet
13 A Trial of 18F-AV-133 Positron Emission Tomography (PET) Imaging to Differentiate Subjects With Parkinson's Disease (PD) From Other Movement Disorders Completed NCT01550484 Phase 2, Phase 3 18F-AV-133
14 18-month Study of Long-term Efficacy & Safety of Safinamide as add-on Therapy in Patients With Mid-late Stage PD Completed NCT01286935 Phase 3 Safinamide;Safinamide;Placebo
15 Study of Azilect® (Rasagiline) in Levodopa-treated Parkinson's Disease Patients With Motor Fluctuations in Korea Completed NCT01268891 Phase 3 Placebo;Azilect®
16 Pivotal Study in Advanced Parkinsons Disease Patients Completed NCT00466167 Phase 3 Pramipexol Extended Release;Pramipexol Immediate Release;Placebo
17 Levodopa-Carbidopa Intestinal Gel Open-Label Study in Advanced Parkinson's Disease Completed NCT00335153 Phase 3 Levodopa-carbidopa intestinal gel
18 Safinamide in Idiopathic Parkinson's Disease (IPD) With Motor Fluctuations, as add-on to Levodopa Completed NCT00627640 Phase 3 Safinimide 50-100 mg/day;Matching Placebo
19 An Open Label SLV308 Safety Extension to Study S308.3.003 in Early PD Patients Completed NCT00335374 Phase 3 Pardoprunox
20 A Study To Evaluate The Safety And Efficacy Of IPX066 In Advanced Parkinson's Disease (ADVANCE-PD). Completed NCT00974974 Phase 3 IPX066;IR CD-LD
21 Safinamide as Add-On Therapy in Patients With Early Idiopathic Parkinson's Disease Treated With a Stable Dose of a Single Dopamine Agonist Completed NCT00643045 Phase 3 Safinamide;Safinamide;Placebo
22 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
23 18F-AV-1451 Autopsy Study Recruiting NCT02516046 Phase 3 18F-AV-1451
24 Efficacy, Safety and Tolerability of E2007 in Levodopa Treated Parkinson's Disease Patients With Motor Fluctuations Terminated NCT00360308 Phase 3 Placebo;E2007;E2007
25 Body Weight Gain, Parkinson, Subthalamic Stimulation Unknown status NCT00529724 Phase 2
26 18F-DTBZ for l Diagnosis of Parkinson's Disease and Monitoring the Severity of Disease by VMAT2 PET Imaging Completed NCT01283347 Phase 2 18F-DTBZ
27 Imaging Non-motor Symptoms of Parkinson's Disease by Novel 18F-DTBZ and Florbetapir F-18 PET Completed NCT02039024 Phase 2 18F- DTBZ
28 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2 18F-FDG
29 Florbetapir F 18 PET Imaging of Beta-amyloid in Parkinson's Disease Patients Completed NCT00857532 Phase 2 florbetapir F 18
30 Long-Term Vesicular Monoamine Transporter II Imaging and Clinical Assessment of Parkinson's Disease Progression Completed NCT01556100 Phase 2 18F-DTBZ AV-133
31 Study of the Effect of SR57667B on 18F-Dopa PET Imaging in Patients With Parkinson's Disease Completed NCT00220272 Phase 2 SR57667B
32 A Trial of 18F-AV-133 and 18F-AV-45 Positron Emission Tomography (PET) Completed NCT01503944 Phase 1, Phase 2 18F-AV-133;18F-AV-45
33 Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism Completed NCT01759888 Phase 2 18F-DTBZ
34 Effects of Talampanel on Patients With Advanced Parkinson's Disease Completed NCT00036296 Phase 1, Phase 2 talampanel
35 Effect of Robot-assisted Gait Training on Freezing of Gait in Parkinson's Disease Completed NCT00819949 Phase 1, Phase 2
36 Effects of Monoamine Reuptake Inhibitor NS2330 in Parkinson's Disease Completed NCT00006077 Phase 2 NS2330;Levodopa and Domperidone
37 A Comparison of an Implanted Neuroprosthesis With Sensory Training for Improving Airway Protection in Chronic Dysphagia Completed NCT00376506 Phase 2
38 Open-label Investigation of the Safety and Clinical Effects of NTCELL in Patients With Parkinson's Disease Completed NCT01734733 Phase 1, Phase 2
39 Developing a Novel Imaging Biomarker in the Differential Diagnosis of Parkinson's Disease and Parkinsonism Recruiting NCT02059733 Phase 2 18F-DTBZ
40 Investigating the Microstructural and Functional Alterations of Brain in Parkinson's Disease Patients Recruiting NCT02599753 Phase 2 18-FDTBZ
41 Amantadine and L-DOPA-induced Dyskinesia in Early Parkinson's Disease Recruiting NCT01538329 Phase 2 Amantadine;placebo
42 Evaluation of D3 Receptor Occupancy Using FLUORTRIOPRIDE ([18F]FTP) PET/CT Recruiting NCT02815917 Phase 1, Phase 2 [18F]FTP PET/CT
43 Lovastatin as a Neuroprotective Treatment for Early Stage Parkinson's Disease Recruiting NCT03242499 Phase 2 Lovastatin;Placebo
44 Simvastatin as a Neuroprotective Treatment for Moderate Parkinson's Disease Recruiting NCT02787590 Phase 2 Simvastatin;Matched Placebo (for Simvastatin)
45 Effects of Cholinergic Augmentation on Measures of Balance and Gait Recruiting NCT02206620 Phase 2 Donepezil
46 Identification of a Biomarker Predictive of Evolution of Parkinson Disease Not yet recruiting NCT03230526 Phase 2 [18F]DPA-714 PET scan
47 Evaluation of Nalmefene in Impulse Control Disorders in Parkinson's Disease: A Prospective Open Label Study Not yet recruiting NCT02934919 Phase 2 Nalmefene
48 Evaluate the Safety and Effectiveness of Various Frequency Stimulation for Patients With Parkinson's Disease Not yet recruiting NCT02929628 Phase 2
49 Augmenting Effects of L-DOPS With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
50 Mitochondrial Dysfunction in the Pathophysiology and Treatment of Bipolar Disorder Withdrawn NCT00327756 Phase 2 Coenzyme Q10

Search NIH Clinical Center for Parkinson Disease 18

Genetic Tests for Parkinson Disease 18

Genetic tests related to Parkinson Disease 18:

id Genetic test Affiliating Genes
1 Parkinson Disease 18 29

Anatomical Context for Parkinson Disease 18

MalaCards organs/tissues related to Parkinson Disease 18:

39
Brain, Testes, Cortex, Cerebellum

Publications for Parkinson Disease 18

Variations for Parkinson Disease 18

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

71
id Symbol AA change Variation ID SNP ID
1 EIF4G1 p.Ala502Val VAR_066573 rs111290936
2 EIF4G1 p.Arg1205His VAR_066579 rs112176450

ClinVar genetic disease variations for Parkinson Disease 18:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EIF4G1 NM_198241.2(EIF4G1): c.3614G> A (p.Arg1205His) single nucleotide variant risk factor rs112176450 GRCh37 Chromosome 3, 184045189: 184045189
2 EIF4G1 NM_198241.2(EIF4G1): c.1505C> T (p.Ala502Val) single nucleotide variant risk factor rs111290936 GRCh37 Chromosome 3, 184039877: 184039877

Expression for Parkinson Disease 18

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

Pathways for Parkinson Disease 18

GO Terms for Parkinson Disease 18

Sources for Parkinson 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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