MCID: PRK052
MIFTS: 30

Parkinson Disease 17

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

Aliases & Classifications for Parkinson Disease 17

MalaCards integrated aliases for Parkinson Disease 17:

Name: Parkinson Disease 17 54 12 71 29 13 69
Autosomal Dominant Parkinson Disease 17 12
Park17 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
levodopa-responsive
mean age of onset 50 to 52 years
incomplete, age-associated penetrance
motor fluctuation


HPO:

32
parkinson disease 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614203
Disease Ontology 12 DOID:0060897
MedGen 40 C3280133
MeSH 42 D010300

Summaries for Parkinson Disease 17

UniProtKB/Swiss-Prot : 71 Parkinson disease 17: An autosomal dominant, adult-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 17, also known as autosomal dominant parkinson disease 17, is related to vps35-related parkinson disease, and has symptoms including dyskinesia, parkinsonism and bradykinesia. An important gene associated with Parkinson Disease 17 is VPS35 (VPS35, Retromer Complex Component). The drugs Dopamine and Pramipexole have been mentioned in the context of this disorder. Affiliated tissues include brain.

OMIM : 54
Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. (614203)

Disease Ontology : 12 A late-onset Parkinson disease that has material basis in heterozygous mutation in the VPS35 gene on chromosome 16q13.

Related Diseases for Parkinson Disease 17

Symptoms & Phenotypes for Parkinson Disease 17

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
tremor
dyskinesias
parkinsonism
bradykinesia
rigidity
more

Clinical features from OMIM:

614203

Human phenotypes related to Parkinson Disease 17:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 dyskinesia 32 HP:0100660
2 parkinsonism 32 HP:0001300
3 bradykinesia 32 HP:0002067
4 rigidity 32 HP:0002063
5 postural instability 32 HP:0002172
6 akinesia 32 HP:0002304
7 resting tremor 32 HP:0002322

UMLS symptoms related to Parkinson Disease 17:


muscle cramp, muscle rigidity, tremor, bradykinesia

Drugs & Therapeutics for Parkinson Disease 17

Drugs for Parkinson Disease 17 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 81)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Levodopa Approved Phase 4,Phase 3,Phase 2 59-92-7 6047
6
Rasagiline Approved Phase 4 136236-51-6 3052776
7 Antidepressive Agents Phase 4,Phase 2
8 Antioxidants Phase 4,Phase 3
9 Antiparkinson Agents Phase 4,Phase 3,Phase 2
10 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
12 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
13 Protective Agents Phase 4,Phase 3
14 Central Nervous System Stimulants Phase 4
15 Dopamine Uptake Inhibitors Phase 4
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Analgesics Phase 4
18 Duloxetine Hydrochloride Phase 4
19 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
20 Psychotropic Drugs Phase 4
21
Serotonin Phase 4 50-67-9 5202
22 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
23 N 0437 Phase 4,Phase 1
24 Autonomic Agents Phase 4,Phase 2
25 Monoamine Oxidase Inhibitors Phase 4
26 Neuroprotective Agents Phase 4
27
Ropinirole Approved, Investigational Phase 3 91374-20-8, 91374-21-9 5095 497540
28
Carbidopa Approved Phase 3 28860-95-9 34359 38101
29
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
30
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
31 Tocopherol Approved, Nutraceutical Phase 3
32
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
33 Dihydroxyphenylalanine Phase 3
34 Adjuvants, Immunologic Phase 3
35 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
36 Carbidopa, levodopa drug combination Phase 3
37 Micronutrients Phase 3
38 Tocopherols Phase 3
39 Tocotrienols Phase 3
40 Trace Elements Phase 3
41 Ubiquinone Phase 3
42 Vitamins Phase 3
43
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
44 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
45
Acetylcholine Approved Phase 1, Phase 2 51-84-3 187
46
Apomorphine Approved, Investigational Phase 2 41372-20-7, 58-00-4 6005
47
Curcumin Investigational Phase 2 458-37-7 969516
48 abobotulinumtoxinA Phase 1, Phase 2
49 Botulinum Toxins Phase 1, Phase 2
50 Botulinum Toxins, Type A Phase 1, Phase 2

Interventional clinical trials:

(show all 50)

id Name Status NCT ID Phase Drugs
1 Profile of Depressive Symptoms in Parkinsons Disease Completed NCT00349310 Phase 4 Pramipexole
2 Study of Methylphenidate to Treat Gait Disorders And Attention Deficit In Parkinson's Disease (PARKGAIT-II) Completed NCT00914095 Phase 4 methylphenidate;placebo
3 Study on the Tolerability of Duloxetine in Depressed Patients With Parkinson's Disease Completed NCT00437125 Phase 4 Duloxetine hydrochloride
4 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
5 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4 Rasagiline;Placebo
6 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
7 Anxiety in Parkinson's: Use of Quantitative Methods to Guide Rational Treatment Recruiting NCT02365870 Phase 4 rotigotine transdermal patch;placebo
8 A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel Group Study of Six Months Treatment With Ropinirole PR as Adjunctive Therapy in Patients With Parkinson's Disease Who Are Not Optimally Controlled on L-Dopa Completed NCT01154166 Phase 3 ReQuip PR;Placebo
9 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
10 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
11 Effects of Coenzyme Q10 (CoQ) in Parkinson Disease Terminated NCT00740714 Phase 3 Coenzyme Q10 with vitamin E;placebo with vitamin E
12 Treatment of Depression in Parkinson's Disease Unknown status NCT01416818 Phase 2 Xiaoyao Pill;Bupleurum+Ginkgo;placebo
13 Double-Blind, Multicenter, Sham Surgery Controlled Study of CERE-120 in Subjects With Idiopathic Parkinson's Disease Completed NCT00400634 Phase 2
14 “DOES MYOBLOC™ IMPROVE FUNCTIONAL HAND USE IN YOUNG CHILDREN WITH A HYPERTONIC UPPER EXTREMITY?” Completed NCT00238641 Phase 1, Phase 2 Botulinum Toxin type B
15 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
16 Phase IIa Multicentre Study Investigating of VR040 in Parkinson's Disease Completed NCT01693081 Phase 2 VR040/Aspirair® inhaler;placebo
17 Study to Evaluate the Efficacy, Safety and Tolerability of PXT002331 (Foliglurax) in Reducing Motor Complications of Levodopa Therapy in Parkinson Disease's Patients Recruiting NCT03162874 Phase 2 Placebo oral capsule;PXT002331 - dose 1;PXT002331 - dose 2
18 High-intensity Group Vocal Exercise to Improve Laryngeal Function in Patients With Parkinson Disease Recruiting NCT03263793 Phase 2
19 The Effects of Nanocurcumin on Serum miRNA and Th17 Cells Development Factors in Ankylosing Spondylitis Patients Recruiting NCT03140657 Phase 2 Nanocurcumin;Placebo
20 The Immunomodulatory Effects of Oral Nanocurcumin in Multiple Sclerosis Patients Recruiting NCT03150966 Phase 2 Nanocurcumin;Placebo
21 Identification of a Biomarker Predictive of Evolution of Parkinson Disease Not yet recruiting NCT03230526 Phase 2 [18F]DPA-714 PET scan
22 A Study of LY3154207 in Healthy Participants and Participants With Parkinson's Disease Completed NCT02562768 Phase 1 LY3154207;Placebo
23 Cardiac Effects of Rotigotine Transdermal System in Subjects With Advanced-stage Idiopathic Parkinson's Disease Completed NCT00292227 Phase 1 Rotigotine;Moxifloxacin infusion
24 Psychosocial Treatment of Depression in Parkinson's Disease Unknown status NCT00853346
25 MENTAL PRACTICE IN MOTOR LEARNING OF BRUSHING AND PARKINSON DISEASE Completed NCT02738528
26 Gait Training With Cognitive Tasks in Parkinson's Disease Completed NCT02025517
27 First Presentation of Parkinson Disease Patients to Neurologist Completed NCT00802178
28 Energy Metabolism and Cognitive Aging Completed NCT00777010
29 Caregivers' and Physicians' Treatment Preference in Parkinson Patients Treated With Neupro® Requiring Caregiver Support Completed NCT01330290 Neupro®
30 Non-interventional, Retrospective, Multi-center Study to Evaluate Non-motor Symptoms in Advanced Parkinson Disease (PD) Patients Already Treated With Rotigotine Completed NCT01504529
31 Kinetic Tremor in Parkinsons Disease: Its Course Under Pramipexole (Mirapexin®) Treatment and Impact on Quality of Life Completed NCT01100073
32 Assessment of the Safety and Efficacy of Pramipexole Extended Release in Patients With Parkinson's Disease in Routine Clinical Practice Completed NCT01061567
33 Safety and Efficacy of Long-term Daily Use of Mirapex®-LA Tablets in Patients With Parkinson's Disease Completed NCT01525641 Mirapex LA
34 a PMS on Safety Profile of Pramipexole in Chinese Parkinson Disease Patients Completed NCT01361009 pramipexole
35 Special Survey on Parkinson's Disease (PD) Patients Without Concomitant Use of L-Dopa Completed NCT00613301
36 Visual Spatial Exploration and Art Therapy Intervention in Patients Diagnosed With Parkinson's Disease Recruiting NCT03178786
37 Does N-Acetylcysteine Decrease Spontaneous Oxidation of Central Neural Dopamine in Parkinson's Disease? Recruiting NCT03104725
38 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478
39 Remotely-supervised Transcranial Direct Current Stimulation (tDCS) for At-home Treatment of Fatigue and Cognitive Slowing in Parkinson's Disease Recruiting NCT03189472
40 Parkinson's Disease in African American and Caucasian Patients Recruiting NCT03279445
41 The Effect of Transcranial Direct Current Stimulation (tDCS) on Depression in PD Recruiting NCT03227783
42 Exercise Dosing Trial for Individuals With Parkinson's Disease Recruiting NCT02676804
43 Clinical and Physiological Studies of Tremor Syndromes Recruiting NCT03027310
44 DBS of the Lateral Habenula in Treatment-Resistant Depression Recruiting NCT01798407
45 Follow Up Study for Treatment of Parkinson's Disease With Subthalamic Deep Brain Stimulation Recruiting NCT03230331
46 Compensation Mechanisms in Parkinson's Disease Not yet recruiting NCT02869945
47 Phenomenological and Psychopathological Factors Associated to Hallucinations in Parkinson's Disease Not yet recruiting NCT03105401
48 IN-HOME-Parkinson's Disease Not yet recruiting NCT03189459
49 The Effects of Auditory Cues on Gait Mechanics in Parkinson's Disease Not yet recruiting NCT03253965
50 Brain Network Activation in Patients With Movement Disorders Not yet recruiting NCT03269201

Search NIH Clinical Center for Parkinson Disease 17

Genetic Tests for Parkinson Disease 17

Genetic tests related to Parkinson Disease 17:

id Genetic test Affiliating Genes
1 Parkinson Disease 17 29

Anatomical Context for Parkinson Disease 17

MalaCards organs/tissues related to Parkinson Disease 17:

39
Brain

Publications for Parkinson Disease 17

Variations for Parkinson Disease 17

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 17:

71
id Symbol AA change Variation ID SNP ID
1 VPS35 p.Asp620Asn VAR_066659 rs188286943

ClinVar genetic disease variations for Parkinson Disease 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VPS35 NM_018206.5(VPS35): c.1858G> A (p.Asp620Asn) single nucleotide variant Pathogenic rs188286943 GRCh37 Chromosome 16, 46696364: 46696364

Expression for Parkinson Disease 17

Search GEO for disease gene expression data for Parkinson Disease 17.

Pathways for Parkinson Disease 17

GO Terms for Parkinson Disease 17

Sources for Parkinson Disease 17

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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