PARK17
MCID: PRK052
MIFTS: 29

Parkinson Disease 17 (PARK17) malady

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

Aliases & Classifications for Parkinson Disease 17

Aliases & Descriptions for Parkinson Disease 17:

Name: Parkinson Disease 17 54 12 66 29 13 69
Autosomal Dominant Parkinson Disease 17 12
Park17 66

Characteristics:

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 : 66 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 parkinson disease, late-onset, and has symptoms including bradykinesia, dyskinesia and rigidity. 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.

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

OMIM : 54 Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to... (614203) more...

Related Diseases for Parkinson Disease 17

Symptoms & Phenotypes for Parkinson Disease 17

Symptoms by clinical synopsis from OMIM:

614203

Clinical features from OMIM:

614203

Human phenotypes related to Parkinson Disease 17:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 bradykinesia 32 HP:0002067
2 dyskinesia 32 HP:0100660
3 rigidity 32 HP:0002063
4 parkinsonism 32 HP:0001300
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 92)
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
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
8 Antidepressive Agents Phase 4,Phase 2
9 Antioxidants Phase 4,Phase 3
10 Antiparkinson Agents Phase 4,Phase 3,Phase 2
11 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
14 Protective Agents Phase 4,Phase 3
15 Central Nervous System Stimulants Phase 4
16 Dopamine Uptake Inhibitors Phase 4
17 Neurotransmitter Uptake Inhibitors Phase 4
18 Analgesics Phase 4
19 Duloxetine Hydrochloride Phase 4
20 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
21 Psychotropic Drugs Phase 4
22
Serotonin Phase 4 50-67-9 5202
23 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
24 N 0437 Phase 4,Phase 1
25 Autonomic Agents Phase 4,Phase 2
26 Neuroprotective Agents Phase 4
27 Serotonin Agents Phase 4
28 Serotonin Uptake Inhibitors Phase 4
29
Carbidopa Approved Phase 3 28860-95-9 34359 38101
30
Canagliflozin Approved Phase 3 842133-18-0
31
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
32
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
33
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
34 Dihydroxyphenylalanine Phase 3
35 Adjuvants, Immunologic Phase 3
36 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
37 Carbidopa, levodopa drug combination Phase 3
38 Hypoglycemic Agents Phase 3
39 Micronutrients Phase 3
40 Tocopherols Phase 3
41 Tocotrienols Phase 3
42 Trace Elements Phase 3
43 Ubiquinone Phase 3
44 Vitamins Phase 3
45
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
46 Tocopherol Nutraceutical Phase 3
47 Tocotrienol Nutraceutical Phase 3
48
Acetylcholine Approved Phase 1, Phase 2 51-84-3 187
49
Apomorphine Approved, Investigational Phase 2 41372-20-7, 58-00-4 6005
50
Cortisone acetate Approved Phase 2 1950-04-4, 50-04-4 5745

Interventional clinical trials:

(show all 45)
id Name Status NCT ID Phase
1 Profile of Depressive Symptoms in Parkinsons Disease Completed NCT00349310 Phase 4
2 Study of Methylphenidate to Treat Gait Disorders And Attention Deficit In Parkinson's Disease (PARKGAIT-II) Completed NCT00914095 Phase 4
3 Study on the Tolerability of Duloxetine in Depressed Patients With Parkinson's Disease Completed NCT00437125 Phase 4
4 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4
5 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4
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
7 Treating Sexual Dysfunction From Selective Serotonin Reuptake Inhibitor (SSRI) Medication: a Study Comparing Requip CR to Placebo Completed NCT00334048 Phase 4
8 Anxiety in Parkinson's: Use of Quantitative Methods to Guide Rational Treatment Recruiting NCT02365870 Phase 4
9 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
10 A Study To Evaluate The Safety And Efficacy Of IPX066 In Advanced Parkinson's Disease (ADVANCE-PD). Completed NCT00974974 Phase 3
11 Evaluation of the Effects of Canagliflozin on Renal and Cardiovascular Outcomes in Participants With Diabetic Nephropathy Recruiting NCT02065791 Phase 3
12 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3
13 Effects of Coenzyme Q10 (CoQ) in Parkinson Disease Terminated NCT00740714 Phase 3
14 Treatment of Depression in Parkinson's Disease Unknown status NCT01416818 Phase 2
15 Double-Blind, Multicenter, Sham Surgery Controlled Study of CERE-120 in Subjects With Idiopathic Parkinson's Disease Completed NCT00400634 Phase 2
16 “DOES MYOBLOC™ IMPROVE FUNCTIONAL HAND USE IN YOUNG CHILDREN WITH A HYPERTONIC UPPER EXTREMITY?” Completed NCT00238641 Phase 1, Phase 2
17 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2
18 Phase IIa Multicentre Study Investigating of VR040 in Parkinson's Disease Completed NCT01693081 Phase 2
19 The Effects of Nanocurcumin on Serum miRNA and Th17 Cells Development Factors in Ankylosing Spondylitis Patients Recruiting NCT03140657 Phase 2
20 The Immunomodulatory Effects of Oral Nanocurcumin in Multiple Sclerosis Patients Recruiting NCT03150966 Phase 2
21 Treatment of Apomorphine-induced Skin Reactions: a Pilot Study Recruiting NCT02230930 Phase 2
22 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2
23 Study to Evaluate the Efficacy, Safety and Tolerability of PXT002331 (Foliglurax) in Reducing Motor Complications of Levodopa Therapy in Parkinson Disease's Patients Not yet recruiting NCT03162874 Phase 2
24 A Study of LY3154207 in Healthy Participants and Participants With Parkinson's Disease Completed NCT02562768 Phase 1
25 Cardiac Effects of Rotigotine Transdermal System in Subjects With Advanced-stage Idiopathic Parkinson's Disease Completed NCT00292227 Phase 1
26 Psychosocial Treatment of Depression in Parkinson's Disease Unknown status NCT00853346
27 MENTAL PRACTICE IN MOTOR LEARNING OF BRUSHING AND PARKINSON DISEASE Completed NCT02738528
28 Gait Training With Cognitive Tasks in Parkinson's Disease Completed NCT02025517
29 Energy Metabolism and Cognitive Aging Completed NCT00777010
30 First Presentation of Parkinson Disease Patients to Neurologist Completed NCT00802178
31 Caregivers' and Physicians' Treatment Preference in Parkinson Patients Treated With Neupro® Requiring Caregiver Support Completed NCT01330290
32 Non-interventional, Retrospective, Multi-center Study to Evaluate Non-motor Symptoms in Advanced Parkinson Disease (PD) Patients Already Treated With Rotigotine Completed NCT01504529
33 Kinetic Tremor in Parkinsons Disease: Its Course Under Pramipexole (Mirapexin®) Treatment and Impact on Quality of Life Completed NCT01100073
34 Assessment of the Safety and Efficacy of Pramipexole Extended Release in Patients With Parkinson's Disease in Routine Clinical Practice Completed NCT01061567
35 Safety and Efficacy of Long-term Daily Use of Mirapex®-LA Tablets in Patients With Parkinson's Disease Completed NCT01525641
36 a PMS on Safety Profile of Pramipexole in Chinese Parkinson Disease Patients Completed NCT01361009
37 Special Survey on Parkinson's Disease (PD) Patients Without Concomitant Use of L-Dopa Completed NCT00613301
38 Does N-Acetylcysteine Decrease Spontaneous Oxidation of Central Neural Dopamine in Parkinson's Disease? Recruiting NCT03104725
39 Exercise Dosing Trial for Individuals With Parkinson's Disease Recruiting NCT02676804
40 Clinical and Physiological Studies of Tremor Syndromes Recruiting NCT03027310
41 REGISTRY - an Observational Study of the European Huntington's Disease Network (EHDN) Recruiting NCT01590589
42 DBS of the Lateral Habenulae in Treatment-Resistant Depression Active, not recruiting NCT01798407
43 Compensation Mechanisms in Parkinson's Disease Not yet recruiting NCT02869945
44 Phenomenological and Psychopathological Factors Associated to Hallucinations in Parkinson's Disease Not yet recruiting NCT03105401
45 Visual Spatial Exploration and Art Therapy Intervention in Patients Diagnosed With Parkinson's Disease Not yet recruiting NCT03178786

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:

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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