PARK5
MCID: PRK045
MIFTS: 40

Parkinson Disease 5 (PARK5) malady

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

Aliases & Classifications for Parkinson Disease 5

Aliases & Descriptions for Parkinson Disease 5:

Name: Parkinson Disease 5 54 66 69
Parkinson Disease 5, Susceptibility to 29 13
Parkinson Disease 5, Autosomal Dominant, Susceptibility to 66
Parkinson Disease 5, Autosomal Dominant 69
Parkinson Disease Autosomal Dominant 5 66
Park5 66

Classifications:



External Ids:

OMIM 54 613643
MedGen 40 C3150899
MeSH 42 D010300

Summaries for Parkinson Disease 5

UniProtKB/Swiss-Prot : 66 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, susceptibility to, is related to uchl1-related parkinson disease susceptibility and parkinson disease, late-onset. An important gene associated with Parkinson Disease 5 is UCHL1 (Ubiquitin C-Terminal Hydrolase L1), and among its related pathways/superpathways are Neuroscience and Serotonergic synapse. The drugs Donepezil and Rivastigmine have been mentioned in the context of this disorder. Related phenotype is behavior/neurological.

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 19, 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 8
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 19a
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Dnajc6-Related Parkinson Disease
Eif4g1-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Synj1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Htra2-Related Parkinson Disease
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease
Parkinson Disease 22 Parkinson Disease 23, Autosomal Recessive, Early Onset

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

(show all 50)
id Related Disease Score Top Affiliating Genes
1 uchl1-related parkinson disease susceptibility 10.9
2 parkinson disease, late-onset 10.9
3 renpenning syndrome 10.1 COMT SLC6A4
4 urea cycle disorder 10.1 COMT UCHL1
5 apperceptive agnosia 10.1 COMT SLC6A4
6 colorectal adenocarcinoma 10.1 COMT SLC6A4
7 strongyloidiasis 10.1 COMT SLC6A4
8 chronic eosinophilic pneumonia 10.1 COMT SLC6A4
9 breast reconstruction 10.1 COMT UCHL1
10 dry eye syndrome 10.1 HTR2A SLC6A4
11 splenic abscess 10.1 HTR2A SLC6A4
12 euthyroid sick syndrome 10.1 HTR2A SLC6A4
13 neurogenic bladder 10.1 HTR2A SLC6A4
14 pyromania 10.0 HTR2A SLC6A4
15 waardenburg's syndrome 10.0 HTR2A SLC6A4
16 hypoglycemic coma 10.0 HTR2A SLC6A4
17 carotid stenosis 10.0 COMT SLC6A4
18 hepatitis b reinfection following liver transplantation 10.0 HTR2A SLC6A4
19 postencephalitic parkinson disease 10.0 HTR2A SLC6A4
20 cholesteatoma 10.0 COMT SLC6A4
21 craniofacial and skeletal defects 10.0 MAPT UCHL1
22 alzheimer disease 17 10.0 HTR2A SLC6A4
23 plekhm1-related autosomal recessive osteopetrosis 10.0 MAPT UCHL1
24 bartter disease 9.9 HTR2A SLC6A4
25 intrahepatic gall duct cancer 9.9 COMT HTR2A SLC6A4
26 multiple personality disorder 9.9 COMT HTR2A SLC6A4
27 primary angle-closure glaucoma 9.9 COMT HTR2A SLC6A4
28 cytomegalic congenital adrenal hypoplasia 9.9 COMT HTR2A SLC6A4
29 keratosis 9.9 COMT HTR2A SLC6A4
30 cecal benign neoplasm 9.9 COMT HTR2A SLC6A4
31 chagas disease 9.9 COMT HTR2A SLC6A4
32 hereditary multiple exostoses 9.9 COMT HTR2A SLC6A4
33 basal cell carcinoma 3 9.9 COMT HTR2A
34 lichen disease 9.9 COMT HTR2A SLC6A4
35 fechtner syndrome 9.9 COMT HTR2A SLC6A4
36 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 9.9 COMT HTR2A SLC6A4
37 hepatitis d 9.9 COMT HTR2A SLC6A4
38 retinoblastoma 9.9 COMT HTR2A SLC6A4
39 chronic conjunctivitis 9.9 COMT HTR2A SLC6A4
40 benign epilepsy with centrotemporal spikes 9.9 COMT HTR2A SLC6A4
41 brain glioblastoma multiforme 9.9 COMT HTR2A SLC6A4
42 ellis-van creveld syndrome 9.9 COMT HTR2A SLC6A4
43 preeclampsia/eclampsia 5 9.9 COMT HTR2A SLC6A4
44 paraphilia disorder 9.8 COMT HTR2A SLC6A4
45 gallbladder adenoma 9.8 COMT MAPT
46 autism spectrum disorder 9.8 COMT SLC6A4
47 hemochromatosis, type 2a 9.8 COMT MAPT UCHL1
48 epithelioid type angiomyolipoma 9.7 HTR2A MAPT SLC6A4
49 personality disorder 9.6 COMT HTR2A MAPT SLC6A4
50 nephronophthisis 13 9.4 COMT HTR2A MAPT SLC6A4 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 behavior/neurological MP:0005386 9.02 COMT HTR2A MAPT SLC6A4 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 298)
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,Phase 2 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 2,Phase 1 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
Choline Approved, Nutraceutical Phase 4 62-49-7 305
22 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
24 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Nootropic Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Adrenergic Agents Phase 4,Phase 1
27 Atomoxetine Hydrochloride Phase 4
28 Neuroprotective Agents Phase 4,Phase 3,Phase 2
29 Neurotransmitter Uptake Inhibitors Phase 4,Phase 1,Phase 2
30 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
33 N 0437 Phase 4,Phase 3,Phase 1
34 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
36 Antidepressive Agents Phase 4,Phase 1,Phase 2,Early Phase 1
37 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
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 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
41 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
42 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Antiviral Agents Phase 4,Phase 2,Phase 1
44 Peripheral Nervous System Agents Phase 4,Phase 3,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 2,Phase 1
47 Duloxetine Hydrochloride Phase 4,Phase 2
48 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4,Phase 2
49 Benserazide Phase 4,Phase 3,Phase 2,Phase 1
50 Benserazide, levodopa drug combination Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 444)
id Name Status NCT ID Phase
1 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
2 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4
3 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4
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
6 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4
7 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4
8 Donepezil to Treat Dementia in Parkinson's Disease Completed NCT00030979 Phase 4
9 Long-term Study of Duodopa (Levodopa/Carbidopa) in Advanced Parkinson's: Health Outcomes & Net Economic Impact Completed NCT00141518 Phase 4
10 Study on the Tolerability of Duloxetine in Depressed Patients With Parkinson's Disease Completed NCT00437125 Phase 4
11 Non-motor Symptoms (Depressive Symptoms) of Parkinson's Disease and Their Course Under Pramipexole Treatment Completed NCT00651183 Phase 4
12 Tolerability and Efficacy of Switch From Oral Selegiline to Orally Disintegrating Selegiline (Zelapar) in Patients With Parkinson's Disease Completed NCT00640159 Phase 4
13 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4
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
16 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4
17 Mild Cognitive Impairment in Parkinson's Disease Completed NCT01519271 Phase 4
18 Pharmacokinetics of Levodopa/Carbidopa Infusion With and Without Oral Catechol-O-methyl Transferase (COMT) Inhibitors Completed NCT00906828 Phase 4
19 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
20 Comtess® Versus Cabaseril® as Add-on to Levodopa in the Treatment of Parkinsonian Patients Suffering From Wearing- Off. Completed NCT00247247 Phase 4
21 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4
22 Safety/Efficacy of Tigan® to Control Nausea/Vomiting Experienced During Apokyn® Initiation and Treatment Completed NCT00489255 Phase 4
23 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4
24 A Fixed Dose, Dose Response Study for Ropinirole Prolonged Release in Patients With Early Stage Parkinson's Disease Completed NCT01485172 Phase 4
25 Pramipexole Versus Placebo in Parkinson's Disease (PD) Patients With Depressive Symptoms Completed NCT00297778 Phase 4
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
28 Motor Response to Sildenafil in PD Completed NCT01941732 Phase 4
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
30 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
31 An Observational Study of BOTOX® as Headache Prophylaxis for Chronic Migraine Completed NCT01686581 Phase 4
32 Sagene 2014 - Parkinson's Disease and Erectile Dysfunction Recruiting NCT02225548 Phase 4
33 Effect of Continuous Apomorphine During the Night on Sleep Disorders in Insomniac Patients With Parkinson's Disease Recruiting NCT02940912 Phase 4
34 Cholinesterase Inhibitors to Slow Progression of Visual Hallucinations in Parkinson&Apos;s Disease Recruiting NCT01856738 Phase 4
35 "Equistasi" and Gait in Hemiparesis Recruiting NCT02714478 Phase 4
36 INfusion VErsus STimulation in Parkinson's Disease Recruiting NCT02480803 Phase 4
37 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Recruiting NCT01098383 Phase 4
38 Effect of Acetylcholinesterase Inhibitors on the Gait of the Patients With Parkinson Disease Not yet recruiting NCT03011476 Phase 4
39 Effect of an Apomorphine Pump on the Quality of Sleep in Parkinson's Disease Patients (POMPRENELLE). Not yet recruiting NCT02688465 Phase 4
40 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
41 Evaluation of the Tolerance and Acceptability of Rasagiline in the Treatment of Early-stage Parkinson's Disease Terminated NCT01048229 Phase 4
42 Keppra IV for the Treatment of Motor Fluctuations in Parkinson's Disease Withdrawn NCT00584025 Phase 4
43 Solifenacin Succinate (VESIcare) for the Treatment of Urinary Incontinence in Parkinson's Disease Withdrawn NCT00584090 Phase 4
44 Donepezil Treatment of Psychotic Symptoms in Dementia Patients Unknown status NCT00190021 Phase 3
45 Safety, Tolerability, and Efficacy of Donepezil (Aricept) in Parkinson' s Disease (PD) Patients With Dementia Completed NCT01327859 Phase 3
46 Placebo Controlled Study of Preladenant in Participants With Moderate to Severe Parkinson's Disease (P07037) Completed NCT01227265 Phase 3
47 Trial to Assess Parkinson's Disease (PD) Symptom Control to Four Doses of Rotigotine in a Transdermal Patch Completed NCT00522379 Phase 3
48 Efficacy and Safety of BIA 9-1067 in Idiopathic Parkinson's Disease Patients With "Wearing-off" Phenomenon Completed NCT01568073 Phase 3
49 Efficacy and Safety of BF2.649 in Excessive Daytime Sleepiness (EDS) in Parkinson's Disease Completed NCT01036139 Phase 3
50 Efficacy and Safety of BF2.649 in Excessive Daytime Sleepiness (EDS) in Parkinson's Disease Completed NCT01066442 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

Publications for Parkinson Disease 5

Variations for Parkinson Disease 5

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

66
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.

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 cytosol GO:0005829 9.8 COMT HTR2A MAPT SLC6A4 UCHL1
2 plasma membrane GO:0005886 9.77 COMT HTR2A MAPT SLC6A4 UCHL1
3 dendrite GO:0030425 9.43 COMT HTR2A MAPT
4 neuronal cell body GO:0043025 9.33 HTR2A MAPT UCHL1
5 cell body GO:0044297 9.32 COMT MAPT
6 axon cytoplasm GO:1904115 8.96 MAPT UCHL1
7 axon GO:0030424 8.92 COMT HTR2A MAPT UCHL1

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

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.33 COMT HTR2A SLC6A4
2 protein oligomerization GO:0051259 9.32 MAPT SLC6A4
3 sensory perception of pain GO:0019233 9.26 HTR2A UCHL1
4 axonal transport of mitochondrion GO:0019896 8.96 MAPT UCHL1
5 memory GO:0007613 8.8 HTR2A MAPT SLC6A4

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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