MCID: PRK045
MIFTS: 37

Parkinson Disease 5

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

Aliases & Classifications for Parkinson Disease 5

MalaCards integrated aliases for Parkinson Disease 5:

Name: Parkinson Disease 5 54 71 29 69
Parkinson Disease 5, Autosomal Dominant, Susceptibility to 71
Parkinson Disease 5, Autosomal Dominant 69
Parkinson Disease Autosomal Dominant 5 71
Park5 71

Classifications:



External Ids:

OMIM 54 613643
MedGen 40 C3150899
MeSH 42 D010300

Summaries for Parkinson Disease 5

UniProtKB/Swiss-Prot : 71 Parkinson disease 5: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia.

MalaCards based summary : Parkinson Disease 5, also known as parkinson disease 5, autosomal dominant, susceptibility to, is related to uchl1-related parkinson disease susceptibility and piebald trait, kit-related. An important gene associated with Parkinson Disease 5 is UCHL1 (Ubiquitin C-Terminal Hydrolase L1), and among its related pathways/superpathways is Neuroscience. The drugs Donepezil and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotype is renal/urinary system.

Description from OMIM: 613643

Related Diseases for Parkinson Disease 5

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19a, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
Parkinson Disease 18 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease, Juvenile, Type 2 Parkinson Disease 22, Autosomal Dominant
Parkinson Disease 8 Parkinson Disease 23, Autosomal Recessive, Early Onset
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
Parkinson Disease 15, Autosomal Recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Juvenile-Onset Parkinson Disease
Early-Onset Parkinson Disease Lrrk2-Related Parkinson Disease
Vps35-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Synj1-Related Parkinson Disease
Dnajc6-Related Parkinson Disease Eif4g1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Htra2-Related Parkinson Disease Park7-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Snca-Related Parkinson Disease
Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 uchl1-related parkinson disease susceptibility 11.0
2 piebald trait, kit-related 9.8 MAPT UCHL1
3 cough headache 9.7 MAPT UCHL1
4 personality disorder 9.5 COMT MAPT
5 ulcerative colitis 9.5 COMT UCHL1
6 brain meningioma 9.3 COMT UCHL1
7 adrenal gland pheochromocytoma 9.2 COMT MAPT
8 spastic paraplegia 79, autosomal recessive 9.1 COMT MAPT UCHL1
9 parkinson disease, late-onset 9.0 COMT MAPT UCHL1

Graphical network of the top 20 diseases related to Parkinson Disease 5:



Diseases related to Parkinson Disease 5

Symptoms & Phenotypes for Parkinson Disease 5

Clinical features from OMIM:

613643

MGI Mouse Phenotypes related to Parkinson Disease 5:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 COMT MAPT UCHL1

Drugs & Therapeutics for Parkinson Disease 5

Drugs for Parkinson Disease 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 264)
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
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
4
Carbidopa Approved Phase 4,Phase 3,Phase 1,Phase 2 28860-95-9 34359 38101
5
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1 59-92-7 6047
6
Amantadine Approved Phase 4,Phase 2 768-94-5 2130
7
Acetylcholine Approved Phase 4,Phase 3,Phase 1 51-84-3 187
8
Norepinephrine Approved Phase 4,Phase 2 51-41-2 439260
9
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
10
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 26757 5195
11
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130929-57-6 5281081
12
Cabergoline Approved Phase 4 81409-90-7 54746
13
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2 41372-20-7, 58-00-4 6005
14
Trimethobenzamide Approved Phase 4 138-56-7 5577
15
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
16
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
17
Armodafinil Approved, Investigational Phase 4,Phase 2 112111-43-0
18
Modafinil Approved, Investigational Phase 4,Phase 2 68693-11-8 4236
19
Rasagiline Approved Phase 4,Phase 3 136236-51-6 3052776
20
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
21 Benserazide Investigational Phase 4,Phase 3,Phase 2,Phase 1 322-35-0
22 Etiracetam Investigational Phase 4,Phase 2 33996-58-6
23 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Nootropic Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Adrenergic Agents Phase 4,Phase 1
28 Atomoxetine Hydrochloride Phase 4
29 Neuroprotective Agents Phase 4,Phase 3,Phase 2
30 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
31 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
34 N 0437 Phase 4,Phase 3,Phase 1
35 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
38
Serotonin Phase 4,Phase 3,Phase 2,Phase 1 50-67-9 5202
39 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
40 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
42 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
43 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Antiviral Agents Phase 4,Phase 2,Phase 1
45 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
46 Carbidopa, levodopa drug combination Phase 4,Phase 3,Phase 1,Phase 2
47 Antidepressive Agents Phase 4,Phase 2,Early Phase 1
48 Duloxetine Hydrochloride Phase 4,Phase 2
49 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Early Phase 1
50 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 419)

id Name Status NCT ID Phase Drugs
1 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4 l-123 Ioflupane
2 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
3 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4 Strattera;Exelon
4 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
5 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4 Rotigotine;Placebo
6 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4 Rotigotine
7 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4 amantadine sulfate;0.9% sodium chloride
8 Donepezil to Treat Dementia in Parkinson's Disease Completed NCT00030979 Phase 4 Donepezil
9 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)
10 Study on the Tolerability of Duloxetine in Depressed Patients With Parkinson's Disease Completed NCT00437125 Phase 4 Duloxetine hydrochloride
11 Non-motor Symptoms (Depressive Symptoms) of Parkinson's Disease and Their Course Under Pramipexole Treatment Completed NCT00651183 Phase 4 Pramipexole immediate release
12 Tolerability and Efficacy of Switch From Oral Selegiline to Orally Disintegrating Selegiline (Zelapar) in Patients With Parkinson's Disease Completed NCT00640159 Phase 4 Zelapar
13 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4 Levodopa Benserazide Madopar;Levodopa Benserazide Teva Italia
14 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
15 The Effects of the Rivastigmine Patch on Parkinson's Disease With Memory and/or Thinking Problems Completed NCT00988117 Phase 4 Rivastigmine Patch 9.5 cm2
16 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4 Levodopa infusion
17 Mild Cognitive Impairment in Parkinson's Disease Completed NCT01519271 Phase 4 Exelon Patch (rivastigmine transdermal system);Placebo Patches
18 Pharmacokinetics of Levodopa/Carbidopa Infusion With and Without Oral Catechol-O-methyl Transferase (COMT) Inhibitors Completed NCT00906828 Phase 4 levodopa/carbidopa;entacapone;tolcapone
19 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4 Cabergoline
20 Comtess® Versus Cabaseril® as Add-on to Levodopa in the Treatment of Parkinsonian Patients Suffering From Wearing- Off. Completed NCT00247247 Phase 4 Comtess®
21 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
22 Safety/Efficacy of Tigan® to Control Nausea/Vomiting Experienced During Apokyn® Initiation and Treatment Completed NCT00489255 Phase 4 Tigan®;Placebo
23 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4 Methylphenidate (MPD);Placebo
24 A Fixed Dose, Dose Response Study for Ropinirole Prolonged Release in Patients With Early Stage Parkinson's Disease Completed NCT01485172 Phase 4 ropinirole monotherapy;placebo monotherapy
25 Pramipexole Versus Placebo in Parkinson's Disease (PD) Patients With Depressive Symptoms Completed NCT00297778 Phase 4 Pramipexole
26 A Study to Assess Changes in Clinical Management After DaTSCAN Imaging of Subjects With Clinically Uncertain Parkinsonism or an Illness With Similar Symptoms Completed NCT00382967 Phase 4
27 An Eight Week, Double-Blind Efficacy Study of Armodafinil Augmentation to Alleviate Fibromyalgia Fatigue Completed NCT00678691 Phase 4 armodafinil;placebo
28 Motor Response to Sildenafil in PD Completed NCT01941732 Phase 4 Sildenafil
29 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
30 Sagene 2014 - Parkinson's Disease and Erectile Dysfunction Recruiting NCT02225548 Phase 4 Selegiline;Tadalafil
31 Effect of Continuous Apomorphine During the Night on Sleep Disorders in Insomniac Patients With Parkinson's Disease Recruiting NCT02940912 Phase 4 Apomorphine;Placebo
32 Effect of an Apomorphine Pump on the Quality of Sleep in Parkinson's Disease Patients (POMPRENELLE). Recruiting NCT02688465 Phase 4 Apomorphine
33 Cholinesterase Inhibitors to Slow Progression of Visual Hallucinations in Parkinson&Apos;s Disease Recruiting NCT01856738 Phase 4 Rivastigmine;Placebo (for rivastigmine)
34 "Equistasi" and Gait in Hemiparesis Recruiting NCT02714478 Phase 4
35 INfusion VErsus STimulation in Parkinson's Disease Recruiting NCT02480803 Phase 4 Continuous intrajejunal infusion of levodopa-carbidopa
36 Effect of Acetylcholinesterase Inhibitors on the Gait of the Patients With Parkinson Disease Not yet recruiting NCT03011476 Phase 4 Donepezil;Placebos
37 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
38 Evaluation of the Tolerance and Acceptability of Rasagiline in the Treatment of Early-stage Parkinson's Disease Terminated NCT01048229 Phase 4 Rasagiline;Pramipexole
39 Keppra IV for the Treatment of Motor Fluctuations in Parkinson's Disease Withdrawn NCT00584025 Phase 4 levetiracetam;Placebo
40 Solifenacin Succinate (VESIcare) for the Treatment of Urinary Incontinence in Parkinson's Disease Withdrawn NCT00584090 Phase 4 Solifenacin Succinate (VESIcare);Placebo
41 Donepezil Treatment of Psychotic Symptoms in Dementia Patients Unknown status NCT00190021 Phase 3 donepezil
42 Safety, Tolerability, and Efficacy of Donepezil (Aricept) in Parkinson' s Disease (PD) Patients With Dementia Completed NCT01327859 Phase 3 Prior Donepezil 5mg;Prior Donzepezil 10mg;Prior Placebo
43 Placebo Controlled Study of Preladenant in Participants With Moderate to Severe Parkinson's Disease (P07037) Completed NCT01227265 Phase 3 Preladenant;Placebo
44 Trial to Assess Parkinson's Disease (PD) Symptom Control to Four Doses of Rotigotine in a Transdermal Patch Completed NCT00522379 Phase 3 Rotigotine;Rotigotine;Rotigotine;Rotigotine
45 Efficacy and Safety of BIA 9-1067 in Idiopathic Parkinson's Disease Patients With "Wearing-off" Phenomenon Completed NCT01568073 Phase 3 BIA 9-1067;Entacapone;Placebo;Levodopa;Carbidopa;Benserazide
46 Efficacy and Safety of BF2.649 in Excessive Daytime Sleepiness (EDS) in Parkinson's Disease Completed NCT01036139 Phase 3 BF2.649 (pitolisant)
47 Efficacy and Safety of BF2.649 in Excessive Daytime Sleepiness (EDS) in Parkinson's Disease Completed NCT01066442 Phase 3 BF2.649 (Pitolisant)
48 Randomized Safety Study of CVT-301 Compared to an Observational Control Group Completed NCT02352363 Phase 3 CVT-301
49 A Placebo- and Active Controlled Study of Preladenant in Subjects With Moderate to Severe Parkinson's Disease (P04938) Completed NCT01155466 Phase 3 Preladenant 2 mg tablet;Preladenant 5 mg tablet;Preladenant 10 mg tablet;Placebo to Preladenant Tablet;Rasagiline 1 mg capsule;Placebo to Rasagiline capsule
50 Expiratory Muscle Training for Persons With Neurodegenerative Disease Completed NCT00856518 Phase 2, Phase 3

Search NIH Clinical Center for Parkinson Disease 5

Genetic Tests for Parkinson Disease 5

Genetic tests related to Parkinson Disease 5:

id Genetic test Affiliating Genes
1 Parkinson Disease 5 29

Anatomical Context for Parkinson Disease 5

MalaCards organs/tissues related to Parkinson Disease 5:

39
Brain, Testes, Cortex, Subthalamic Nucleus, Lung, Temporal Lobe, Prefrontal Cortex

Publications for Parkinson Disease 5

Variations for Parkinson Disease 5

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 5:

71
id Symbol AA change Variation ID SNP ID
1 UCHL1 p.Ile93Met VAR_015678 rs121917767

ClinVar genetic disease variations for Parkinson Disease 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UCHL1 NM_004181.4(UCHL1): c.279C> G (p.Ile93Met) single nucleotide variant risk factor rs121917767 GRCh37 Chromosome 4, 41262768: 41262768

Expression for Parkinson Disease 5

Search GEO for disease gene expression data for Parkinson Disease 5.

Pathways for Parkinson Disease 5

Pathways related to Parkinson Disease 5 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.31 COMT MAPT UCHL1

GO Terms for Parkinson Disease 5

Cellular components related to Parkinson Disease 5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.32 COMT MAPT
2 neuronal cell body GO:0043025 9.26 MAPT UCHL1
3 cell body GO:0044297 9.16 COMT MAPT
4 axon cytoplasm GO:1904115 8.96 MAPT UCHL1
5 axon GO:0030424 8.8 COMT MAPT UCHL1

Biological processes related to Parkinson Disease 5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 axonal transport of mitochondrion GO:0019896 8.62 MAPT UCHL1

Sources for Parkinson Disease 5

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
Content
Loading form....