MCID: PRK030
MIFTS: 41

Parkinson Disease 4

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

Aliases & Classifications for Parkinson Disease 4

MalaCards integrated aliases 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 71
Parkinson Disease 4, Autosomal Dominant 71
Autosomal Dominant Parkinson Disease 4 12
Parkinson Disease Autosomal Dominant 4 71
Parkinson Disease Familial Type 4 71
Park4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
levodopa-responsive
rapidly progressive
early age of onset (approximately 45 years)
phenotype range from typical parkinson disease to dementia with lewy bodies


HPO:

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


Classifications:



Summaries for Parkinson Disease 4

UniProtKB/Swiss-Prot : 71 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 dementia, lewy body, and has symptoms including parkinsonism, hallucinations and paranoia. 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. Affiliated tissues include brain, testes and bone.

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
parkinsonism
autonomic dysfunction
dementia
diffuse lewy body pathology
alpha-synuclein immunoreactive neuronal and glial inclusions

Growth- Weight:
weight loss

Neurologic- Behavioral Psychiatric Manifestations:
hallucinations
paranoia

Cardiovascular- Vascular:
hypotension, postural, due to autonomic dysfunction


Clinical features from OMIM:

605543

Human phenotypes related to Parkinson Disease 4:

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

Drugs & Therapeutics for Parkinson Disease 4

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

(show top 50) (show all 346)
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
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
4
Rasagiline Approved Phase 4,Phase 1 136236-51-6 3052776
5
Nicotine Approved Phase 4,Phase 1,Phase 2 54-11-5 942 89594
6
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
7
Amantadine Approved Phase 4,Phase 3,Phase 2 768-94-5 2130
8
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
9
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
10
Rivastigmine Approved, Investigational Phase 4,Phase 3 123441-03-2 77991
11
Carbidopa Approved Phase 4,Phase 2,Phase 3,Phase 1 28860-95-9 34359 38101
12 Piracetam Approved Phase 4,Phase 2 7491-74-9
13
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 130929-57-6 5281081
14
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2 41372-20-7, 58-00-4 6005
15
Trimethobenzamide Approved Phase 4 138-56-7 5577
16
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
17
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
18
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
19
Memantine Approved, Investigational Phase 4 19982-08-2 4054
20
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
21
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 26757 5195
22
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
23
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
24
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
25
Bromocriptine Approved, Investigational Phase 4,Phase 3,Phase 2 25614-03-3 31101
26
Norepinephrine Approved Phase 4,Phase 2 51-41-2 439260
27
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
28
Armodafinil Approved, Investigational Phase 4,Phase 2 112111-43-0
29
Modafinil Approved, Investigational Phase 4,Phase 2 68693-11-8 4236
30
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
31
Galantamine Approved Phase 4 357-70-0 9651
32
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
33
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
34
Suvorexant Approved Phase 4 1030377-33-3
35 Mirabegron Approved Phase 4 223673-61-8
36
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
37
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
38
Amitriptyline Approved Phase 4 50-48-6 2160
39
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
40
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
41
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
42
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
43
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
44
Propranolol Approved, Investigational Phase 4 525-66-6 4946
45
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
46
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
47
Topiramate Approved Phase 4 97240-79-4 5284627
48
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
49
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 441240 60857
50
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444

Interventional clinical trials:

(show top 50) (show all 571)

id Name Status NCT ID Phase Drugs
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 l-123 Ioflupane
4 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
5 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4 Rasagiline;Placebo
6 Nicotine Treatment of Impulsivity in Parkinson's Disease Unknown status NCT01216904 Phase 4 nicotine patch;placebo
7 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4 placebo;rasagiline
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 AZILECT®;Placebo
9 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4 Rasagiline;Placebo
10 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
11 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
12 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
13 The Effect of IV Amantadine on Freezing of Gait (FOG) Resistant to Dopaminergic Therapy Unknown status NCT01313819 Phase 4 PK-Merz® 200mg/500ml inj(Amantadine) , Normal saline 500ml inj
14 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4 Mirapex ER
15 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4 Strattera;Exelon
16 Remission of ICD by Switching Dopamine Agonist to Levodopa/Carbidopa Unknown status NCT01683253 Phase 4 Levodopa/Carbidopa(200mg/50mg)
17 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
18 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 Rotigotine
19 A Fixed Dose Study of Ropinirole Prolonged Release as Adjunctive Treatment in Patients With Advanced Parkinson's Disease Completed NCT01494532 Phase 4 ropinirole/L-dopa;placebo/L-dopa
20 REQUIP (Ropinirole Hydrochloride) IR Long-Term Phase 4 Study Completed NCT00485069 Phase 4 ROP;ROP+L-Dopa
21 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4 Rotigotine
22 Effects of Carbidopa/Levodopa/Entacapone on Motor Function and Quality of Life in Patients With Parkinson's Disease Completed NCT00219284 Phase 4 Carbidopa/levodopa/entacapone
23 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
24 Apokyn for Motor IMProvement of Morning AKinesia Trial (AM IMPAKT) Completed NCT01770145 Phase 4 APOKYN;L-dopa;Trimethobenzamide
25 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4 Levodopa Benserazide Madopar;Levodopa Benserazide Teva Italia
26 Study to Evaluate Initiation of Stalevo in Early Wearing-off Completed NCT00462007 Phase 4 Stalevo
27 Safety/Efficacy of Tigan® to Control Nausea/Vomiting Experienced During Apokyn® Initiation and Treatment Completed NCT00489255 Phase 4 Tigan®;Placebo
28 Donepezil to Treat Dementia in Parkinson's Disease Completed NCT00030979 Phase 4 Donepezil
29 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4 amantadine sulfate;0.9% sodium chloride
30 Non-motor Symptoms (Depressive Symptoms) of Parkinson's Disease and Their Course Under Pramipexole Treatment Completed NCT00651183 Phase 4 Pramipexole immediate release
31 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4 Rotigotine
32 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4 Rotigotine;Placebo
33 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
34 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4 Levodopa infusion
35 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
36 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
37 A Trial of Neupro® (Rotigotine Transdermal Patch) in Patients With Parkinson's Disease Undergoing Surgery Completed NCT00594464 Phase 4 Rotigotine
38 Naltrexone for Impulse Control Disorders in Parkinson's Disease Completed NCT01052831 Phase 4 Naltrexone;Placebo
39 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4 Methylphenidate (MPD);Placebo
40 Safety, Tolerability and Efficacy of Switching From Talipexole to Pramipexole in Patients With Parkinson's Disease Completed NCT02231905 Phase 4 BI-Sifrol®
41 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
42 Efficacy of Levodopa/Carbidopa/Entacapone vs Levodopa/Carbidopa in Parkinson's Disease Patients With Early Wearing-off Completed NCT00391898 Phase 4 Levodopa/carbidopa/entacapone;Levodopa/carbidopa
43 Study for Rasagiline Effect on Sleep Trial(REST)in Parkinson's Disease Completed NCT01032486 Phase 4 Rasagiline mesylate
44 Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4 Rasagiline;Placebo
45 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4 Rasagiline;Placebo
46 Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson's Disease Completed NCT00153972 Phase 4 Cabergoline;Levodopa
47 Continuous Delivery of Levodopa in Patients With Advanced Idiopathic Parkinsons Disease - Cost-benefit Completed NCT00272688 Phase 4 Levodopa (drug), intraduodenal administration
48 Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD) Completed NCT00321854 Phase 4 pramipexole
49 Namenda (Memantine) for Non-Motor Symptoms in Parkinson's Disease Completed NCT00646204 Phase 4 Memantine;placebo
50 Study to Compare the Effect of Treatment With Carbidopa/Levodopa/Entacapone on the Quality of Life of Patients With Parkinson's Disease. This Study is Not Recruiting in the United States Completed NCT00143026 Phase 4 carbidopa, levodopa, entacapone

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

MalaCards organs/tissues related to Parkinson Disease 4:

39
Brain, Testes, Bone, Heart, Skin, Spinal Cord, Subthalamic Nucleus

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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