MCID: PRK070
MIFTS: 27

Parkinson Disease 21

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

Aliases & Classifications for Parkinson Disease 21

MalaCards integrated aliases for Parkinson Disease 21:

Name: Parkinson Disease 21 54 71 29
Park21 71

Characteristics:

OMIM:

54
Miscellaneous:
good response to levodopa treatment
slowly progressive
younger onset rarely reported
late-adult onset

Inheritance:
autosomal dominant


HPO:

32
parkinson disease 21:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Parkinson Disease 21

UniProtKB/Swiss-Prot : 71 Parkinson disease 21: An autosomal dominant form of adult-onset Parkinson disease, 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 21, is also known as park21, and has symptoms including tremor, parkinsonism and bradykinesia. An important gene associated with Parkinson Disease 21 is PARK21 (Parkinson Disease 21). The drugs Donepezil and Rasagiline have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

OMIM : 54
Parkinson disease-21 is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by Vilarino-Guell et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). (616361)

Symptoms & Phenotypes for Parkinson Disease 21

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
neuronal loss in the substantia nigra
lewy bodies
postural instability
rigidity
bradykinesia
more

Clinical features from OMIM:

616361

Human phenotypes related to Parkinson Disease 21:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 parkinsonism 32 HP:0001300
3 bradykinesia 32 HP:0002067
4 rigidity 32 HP:0002063
5 postural instability 32 HP:0002172
6 lewy bodies 32 HP:0100315

Drugs & Therapeutics for Parkinson Disease 21

Drugs for Parkinson Disease 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 87)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4,Phase 2 120014-06-4 3152
2
Rasagiline Approved Phase 4 136236-51-6 3052776
3
Carbidopa Approved Phase 4,Phase 3,Phase 1 28860-95-9 34359 38101
4
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
5
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1 59-92-7 6047
6 Cholinergic Agents Phase 4,Phase 3,Phase 2
7 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Nootropic Agents Phase 4,Phase 2
10 Monoamine Oxidase Inhibitors Phase 4
11 Neuroprotective Agents Phase 4,Phase 3
12 Protective Agents Phase 4,Phase 3,Phase 1,Phase 2
13 Adjuvants, Immunologic Phase 4,Phase 3
14 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4,Phase 3,Phase 1
16 Carbidopa, levodopa drug combination Phase 4,Phase 3,Phase 1
17 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
19 N 0437 Phase 4,Phase 3,Phase 1
20 Autonomic Agents Phase 4,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
22 Dihydroxyphenylalanine Phase 4,Phase 3
23
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
24 Cholinergic Antagonists Phase 3
25
Fludrocortisone Approved Phase 2 127-31-1 31378
26
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
27
Acetylcholine Approved Phase 2 51-84-3 187
28
Cocaine Approved, Illicit Phase 2 50-36-2 5760 446220
29
Selegiline Approved, Investigational, Vet_approved Phase 2 14611-51-9 26757 5195
30
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
31
Ambroxol Approved Phase 2 18683-91-5
32
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
33 Anticonvulsants Phase 2
34 Anti-Inflammatory Agents Phase 2
35 Bromides Phase 2
36 Pyridostigmine Bromide Phase 2 101-26-8
37 Excitatory Amino Acid Antagonists Phase 2
38 Antidotes Phase 1, Phase 2
39 Anti-Infective Agents Phase 1, Phase 2
40 Antioxidants Phase 1, Phase 2
41 Antiviral Agents Phase 1, Phase 2
42 Expectorants Phase 1, Phase 2
43 N-monoacetylcystine Phase 1, Phase 2
44 Respiratory System Agents Phase 1, Phase 2
45 Fluorodeoxyglucose F18 Phase 2
46 Anesthetics Phase 2
47 Anesthetics, Local Phase 2
48 Central Nervous System Depressants Phase 2
49 Dopamine Uptake Inhibitors Phase 2
50 Neurotransmitter Uptake Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 59)

id Name Status NCT ID Phase Drugs
1 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
2 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4 placebo;rasagiline
3 Long-term Study of Duodopa (Levodopa/Carbidopa) in Advanced Parkinson's: Health Outcomes & Net Economic Impact Completed NCT00141518 Phase 4 Levodopa-carbidopa intestinal gel (LCIG)
4 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4 Rotigotine
5 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
6 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4 Rotigotine
7 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4 Rasagiline;Placebo
8 Dopamine Enhancement of Fear Extinction Learning in PTSD (1R21MH108753) Recruiting NCT02560389 Phase 4 Placebo;Levodopa
9 A Trial to Evaluate the Effects of Rotigotine Transdermal Patch on Early Morning Motor Impairment and Sleep Disorders Idiopathic Parkinson's Disease Completed NCT00243945 Phase 3 Rotigotine
10 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
11 A Study To Evaluate The Safety And Efficacy Of IPX066 In Subjects With Parkinson's Disease Completed NCT00880620 Phase 3 Placebo;IPX066 95 mg LD;IPX066 145 mg LD;IPX066 195 mg LD;IPX066 245 mg LD
12 Long-term Safety of Rivastigmine Capsule and Patch in Patients With Mild to Moderately-severe Dementia Associated With Parkinson's Disease (PDD) Completed NCT00623103 Phase 3 Rivastigmine capsule;Rivastigmine transdermal patch
13 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
14 Ascending Dose Tolerability/Safety of SLV308 for the Treatment of Parkinson's Disease Completed NCT00134251 Phase 3 SLV308
15 A Study to Assess the Efficacy and Safety of the Gastric-retentive AP-CD/LD in Advanced Parkinson's Patients Recruiting NCT02605434 Phase 3 Accordion Pill™ Carbidopa/Levodopa;Sinemet®;Placebo -AP-CD/LD;Placebo- Sinemet
16 Orthostatic Dysregulation and Associated Gastrointestinal Dysfunction in Parkinson's Disease -Treatment Unknown status NCT01993680 Phase 2 Pyridostigmine bromide;fludrocortisone
17 Talampanel to Treat Parkinson's Disease Completed NCT00108667 Phase 2 IV Levodopa;Talampanel
18 N-Acetylcysteine for Neuroprotection in Parkinson's Disease Completed NCT01470027 Phase 1, Phase 2 N-acetylcysteine;Placebo
19 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
20 Combined Donepezil and Selegiline Effects on Cocaine-Reinforced Behavior Completed NCT01495195 Phase 2 High-dose donepezil;Low-dose donepezil;Selegiline;Placebo
21 Evaluation of Nalmefene in Impulse Control Disorders in Parkinson's Disease: A Prospective Open Label Study Not yet recruiting NCT02934919 Phase 2 Nalmefene
22 Ambroxol in Disease Modification in Parkinson Disease Not yet recruiting NCT02941822 Phase 2 Ambroxol
23 Comparison of Continuous and Pulsatile Apomorphine in Parkinson's Disease Withdrawn NCT00758368 Phase 2 Apomorphine
24 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of PF-06649751 in Parkinson`s Disease Completed NCT02224664 Phase 1 PF-06649751;PF-06649751;PF-06649751;PF-06649751
25 Cardiac Effects of Rotigotine Transdermal System in Subjects With Advanced-stage Idiopathic Parkinson's Disease Completed NCT00292227 Phase 1 Rotigotine;Moxifloxacin infusion
26 Effect of BIA 9-1067 at Steady-state on the Pharmacokinetics of Levodopa/Carbidopa and Levodopa/Benserazide Completed NCT01533116 Phase 1 BIA 9-1067;Placebo;levodopa/carbidopa;levodopa/benserazide
27 Cough According to Stimulus Type in PD Recruiting NCT02390089 Phase 1 Capsaicin vapor
28 Deep Brain Stimulation for Refractory Alcoholism Withdrawn NCT01798888 Phase 1
29 Clinical, Molecular and by Neuroimaging of LRRK2 Mutations Unknown status NCT01085227
30 Saccadometry in Primary Headache Syndromes Unknown status NCT01395264
31 Antidepressant Effect of Deep Brain Stimulation in Parkinson's Disease Patients Completed NCT00885222
32 Subthalamic Deep Brain Stimulation (DBS) in Parkinson's Disease Completed NCT02012647 Early Phase 1
33 Study of Dysarthria, Swallowing Disorders and Respiratory in Parkinson's Disease Completed NCT02627664
34 Effect of Stimulus Rate on Cognitive and Motor Activity in Young Subjects, Elderly Subjects, and Patients With Parkinson's Disease Completed NCT00026598
35 Transcranial Magnetic Stimulation in Parkinson's Disease Completed NCT00023062
36 Motor Skill Learning in People With Parkinson's Disease Completed NCT00396942
37 LRRK2 and Other Novel Exosome Proteins in Parkinson's Disease Completed NCT01860118
38 Kinetic Tremor in Parkinsons Disease: Its Course Under Pramipexole (Mirapexin®) Treatment and Impact on Quality of Life Completed NCT01100073
39 Visual Function During Gait in Parkinson's Disease: Impact of Cognition and Response to Visual Cues Completed NCT02610634
40 How the Loss of Dopamine and Dopamine-Restoring Medicines Affect Movement Performance Completed NCT00040196
41 Systemic Synuclein Sampling Study (S4) Completed NCT02572713 DaTSCAN™
42 In Vivo Imaging of Therapeutic Electric Current Flow Completed NCT02453763
43 Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations Completed NCT00302146
44 First Presentation of Parkinson Disease Patients to Neurologist Completed NCT00802178
45 Brain Imaging in the Idiopathic REM Sleep Behavior Disorder (ALICE) Completed NCT03072940
46 Rhythm Perception and Generation Completed NCT00080067
47 Caregivers' and Physicians' Treatment Preference in Parkinson Patients Treated With Neupro® Requiring Caregiver Support Completed NCT01330290 Neupro®
48 Change in Gastrointestinal Complaints After Switch From Oral Parkinson's Disease Treatment to Neupro® Transdermal Patch Completed NCT01159691
49 PET Imaging of Nicotinic Acetylcholine Receptors Completed NCT01046513
50 Assessment of the Safety and Efficacy of Pramipexole Extended Release in Patients With Parkinson's Disease in Routine Clinical Practice Completed NCT01061567

Search NIH Clinical Center for Parkinson Disease 21

Genetic Tests for Parkinson Disease 21

Genetic tests related to Parkinson Disease 21:

id Genetic test Affiliating Genes
1 Parkinson Disease 21 29

Anatomical Context for Parkinson Disease 21

MalaCards organs/tissues related to Parkinson Disease 21:

39
Brain, Testes

Publications for Parkinson Disease 21

Variations for Parkinson Disease 21

Expression for Parkinson Disease 21

Search GEO for disease gene expression data for Parkinson Disease 21.

Pathways for Parkinson Disease 21

GO Terms for Parkinson Disease 21

Sources for Parkinson Disease 21

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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