PARK4
MCID: PRK030
MIFTS: 38

Parkinson Disease 4 (PARK4) malady

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

Aliases & Classifications for Parkinson Disease 4

Aliases & Descriptions for Parkinson Disease 4:

Name: Parkinson Disease 4 54 29 13
Parkinson Disease 4, Autosomal Dominant Lewy Body 69
Autosomal Dominant Lewy Body Parkinson Disease 4 12
Parkinson Disease 4 Autosomal Dominant Lewy Body 66
Parkinson Disease 4, Autosomal Dominant 66
Autosomal Dominant Parkinson Disease 4 12
Parkinson Disease Autosomal Dominant 4 66
Parkinson Disease Familial Type 4 66
Park4 66

Characteristics:

HPO:

32
parkinson disease 4:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset rapidly progressive


Classifications:



External Ids:

OMIM 54 605543
Disease Ontology 12 DOID:0060895
ICD10 33 G20
MedGen 40 C1854182
MeSH 42 D010300

Summaries for Parkinson Disease 4

UniProtKB/Swiss-Prot : 66 Parkinson disease 4, autosomal dominant: 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 4, also known as parkinson disease 4, autosomal dominant lewy body, is related to parkinson disease, late-onset and parkinson disease 1, and has symptoms including dysautonomia, hallucinations and weight loss. An important gene associated with Parkinson Disease 4 is SNCA (Synuclein Alpha). The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Related phenotype is cardiovascular system.

Disease Ontology : 12 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.

Description from OMIM: 605543

Related Diseases for Parkinson Disease 4

Symptoms & Phenotypes for Parkinson Disease 4

Symptoms by clinical synopsis from OMIM:

605543

Clinical features from OMIM:

605543

Human phenotypes related to Parkinson Disease 4:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 dysautonomia 32 HP:0002459
2 hallucinations 32 HP:0000738
3 weight loss 32 HP:0001824
4 paranoia 32 HP:0011999
5 dementia 32 HP:0000726
6 orthostatic hypotension 32 HP:0001278
7 parkinsonism 32 HP:0001300
8 lewy bodies 32 HP:0100315

MGI Mouse Phenotypes related to Parkinson Disease 4:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 AOC1 NFE2L2 SNCA

Drugs & Therapeutics for Parkinson Disease 4

Drugs for Parkinson Disease 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 396)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-92-7 6047
3
Nicotine Approved Phase 4,Phase 1,Phase 2 54-11-5 942 89594
4
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
5
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2 123441-03-2 77991
6
Acetylcholine Approved Phase 4,Phase 3,Phase 2 51-84-3 187
7 Piracetam Approved Phase 4,Phase 2 7491-74-9
8
Rasagiline Approved Phase 4,Phase 1 136236-51-6 3052776
9
Bromocriptine Approved, Investigational Phase 4,Phase 3,Phase 2 25614-03-3 31101
10
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
11
Carbidopa Approved Phase 4,Phase 2,Phase 3,Phase 1 28860-95-9 34359 38101
12
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
13
Amantadine Approved Phase 4,Phase 3,Phase 2 768-94-5 2130
14
Norepinephrine Approved Phase 4,Phase 2 51-41-2 439260
15
Verapamil Approved Phase 4 52-53-9 2520
16
Trandolapril Approved Phase 4 87679-37-6 5484727
17
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
18
Atenolol Approved Phase 4 29122-68-7 2249
19
Galantamine Approved Phase 4,Phase 2 357-70-0 9651 908828, 9651
20
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
21
Selegiline Approved, Investigational, Vet_approved Phase 4,Phase 2 14611-51-9 26757 5195
22
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2 41372-20-7, 58-00-4 6005
23
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
24
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
25
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
26
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
27
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
28
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
29
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 130929-57-6 5281081
30
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
31
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
32
Modafinil Approved, Investigational Phase 4,Phase 2 68693-11-8 4236
33
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
34
Armodafinil Approved, Investigational Phase 4,Phase 2 112111-43-0
35
Trimethobenzamide Approved Phase 4 138-56-7 5577
36
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
37
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
38
Suvorexant Approved Phase 4 1030377-33-3
39
Tetrabenazine Approved Phase 4 58-46-8 6018
40
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
41
Mirabegron Approved Phase 4 223673-61-8
42
Topiramate Approved Phase 4 97240-79-4 5284627
43
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
44
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
45
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
46
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
47
Propranolol Approved, Investigational Phase 4 525-66-6 4946
48
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
49
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
50
Amitriptyline Approved Phase 4 50-48-6 2160

Interventional clinical trials:

(show top 50) (show all 611)
id Name Status NCT ID Phase
1 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients Unknown status NCT01780467 Phase 4
2 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
3 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
4 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4
5 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4
6 Nicotine Treatment of Impulsivity in Parkinson's Disease Unknown status NCT01216904 Phase 4
7 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4
8 Evaluation of the Efficacy of Rasagiline in Apathy in Drug-naïve Patients With Parkinson's Disease by a Multi-center Study Unknown status NCT01765257 Phase 4
9 Pramipexole and Bromocriptine on Nonmotor Symptoms of Early Parkinson's Disease Unknown status NCT01673724 Phase 4
10 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4
11 Effect of Deep Brain Stimulation on Gait of Patients With Parkinson's Disease Depending on Electrode Location in Subthalamic Area Unknown status NCT01782638 Phase 4
12 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4
13 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
14 The Effect of IV Amantadine on Freezing of Gait (FOG) Resistant to Dopaminergic Therapy Unknown status NCT01313819 Phase 4
15 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4
16 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4
17 Remission of ICD by Switching Dopamine Agonist to Levodopa/Carbidopa Unknown status NCT01683253 Phase 4
18 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
19 A Phase 4, Open-label Study to Assess the Feasibility and Efficacy on Motor and Non-motor Symptoms of Switching From Pramipexole or Ropinirole to Rotigotine Transdermal Patch in Subjects With Advanced Idiopathic Parkinson's Disease Completed NCT01711866 Phase 4
20 A Fixed Dose Study of Ropinirole Prolonged Release as Adjunctive Treatment in Patients With Advanced Parkinson's Disease Completed NCT01494532 Phase 4
21 REQUIP (Ropinirole Hydrochloride) IR Long-Term Phase 4 Study Completed NCT00485069 Phase 4
22 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4
23 Effects of Carbidopa/Levodopa/Entacapone on Motor Function and Quality of Life in Patients With Parkinson's Disease Completed NCT00219284 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 Apokyn for Motor IMProvement of Morning AKinesia Trial (AM IMPAKT) Completed NCT01770145 Phase 4
26 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4
27 Study to Evaluate Initiation of Stalevo in Early Wearing-off Completed NCT00462007 Phase 4
28 Safety/Efficacy of Tigan® to Control Nausea/Vomiting Experienced During Apokyn® Initiation and Treatment Completed NCT00489255 Phase 4
29 Donepezil to Treat Dementia in Parkinson's Disease Completed NCT00030979 Phase 4
30 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4
31 Non-motor Symptoms (Depressive Symptoms) of Parkinson's Disease and Their Course Under Pramipexole Treatment Completed NCT00651183 Phase 4
32 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4
33 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4
34 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
35 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4
36 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4
37 The Effects of the Rivastigmine Patch on Parkinson's Disease With Memory and/or Thinking Problems Completed NCT00988117 Phase 4
38 A Trial of Neupro® (Rotigotine Transdermal Patch) in Patients With Parkinson's Disease Undergoing Surgery Completed NCT00594464 Phase 4
39 Naltrexone for Impulse Control Disorders in Parkinson's Disease Completed NCT01052831 Phase 4
40 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4
41 Safety, Tolerability and Efficacy of Switching From Talipexole to Pramipexole in Patients With Parkinson's Disease Completed NCT02231905 Phase 4
42 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4
43 Efficacy of Levodopa/Carbidopa/Entacapone vs Levodopa/Carbidopa in Parkinson's Disease Patients With Early Wearing-off Completed NCT00391898 Phase 4
44 Study for Rasagiline Effect on Sleep Trial(REST)in Parkinson's Disease Completed NCT01032486 Phase 4
45 Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4
46 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4
47 Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson's Disease Completed NCT00153972 Phase 4
48 Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD) Completed NCT00321854 Phase 4
49 Continuous Delivery of Levodopa in Patients With Advanced Idiopathic Parkinsons Disease - Cost-benefit Completed NCT00272688 Phase 4
50 Namenda (Memantine) for Non-Motor Symptoms in Parkinson's Disease Completed NCT00646204 Phase 4

Search NIH Clinical Center for Parkinson Disease 4

Genetic Tests for Parkinson Disease 4

Genetic tests related to Parkinson Disease 4:

id Genetic test Affiliating Genes
1 Parkinson Disease 4 29

Anatomical Context for Parkinson Disease 4

Publications for Parkinson Disease 4

Variations for Parkinson Disease 4

ClinVar genetic disease variations for Parkinson Disease 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SNCA SNCA, TRIPLICATION copy number gain Pathogenic

Expression for Parkinson Disease 4

Search GEO for disease gene expression data for Parkinson Disease 4.

Pathways for Parkinson Disease 4

GO Terms for Parkinson Disease 4

Biological processes related to Parkinson Disease 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.26 AOC1 SNCA
2 aging GO:0007568 9.16 NFE2L2 SNCA
3 cellular response to oxidative stress GO:0034599 8.96 NFE2L2 SNCA
4 cellular response to copper ion GO:0071280 8.62 AOC1 SNCA

Molecular functions related to Parkinson Disease 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.16 NFE2L2 SNCA
2 transcription regulatory region DNA binding GO:0044212 8.96 NFE2L2 SNCA
3 copper ion binding GO:0005507 8.62 AOC1 SNCA

Sources for Parkinson Disease 4

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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