PARK5
MCID: PRK098
MIFTS: 26

Parkinson Disease 5, Autosomal Dominant (PARK5)

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

Aliases & Classifications for Parkinson Disease 5, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 5, Autosomal Dominant:

Name: Parkinson Disease 5, Autosomal Dominant 56 71
Parkinson Disease 5 56 73 29 6 71
Parkinson Disease 5, Susceptibility to 56 29 13
Parkinson Disease 5, Autosomal Dominant, Susceptibility to 56 73
Park5 56 73
Parkinson Disease Autosomal Dominant 5 73
Parkinson Disease, Type 5 39

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
one german family has been described
onset in fifth decade

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 613643
OMIM Phenotypic Series 56 PS168600
MeSH 43 D010300
MedGen 41 C3150899
UMLS 71 C3150899 C3501657

Summaries for Parkinson Disease 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 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, Autosomal Dominant, is also known as parkinson disease 5. An important gene associated with Parkinson Disease 5, Autosomal Dominant is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). The drugs Dopamine agonists and Dihydroxyphenylalanine have been mentioned in the context of this disorder. Affiliated tissues include brain and thalamus.

More information from OMIM: 613643 PS168600

Symptoms & Phenotypes for Parkinson Disease 5, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
bradykinesia
postural instability
resting tremor

Clinical features from OMIM:

613643

Drugs & Therapeutics for Parkinson Disease 5, Autosomal Dominant

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dopamine agonists Phase 2
2 Dihydroxyphenylalanine Phase 2
3
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
4
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
5
Cysteine Approved, Nutraceutical Phase 1 52-90-4 5862
6 Neurotransmitter Agents Phase 1
7 Sympathomimetics Phase 1
8 Anti-Infective Agents Phase 1
9 Respiratory System Agents Phase 1
10 Dopamine Agents Phase 1
11 Antioxidants Phase 1
12 Free Radical Scavengers Phase 1
13 Antiviral Agents Phase 1
14 N-monoacetylcystine Phase 1
15 Monoamine Oxidase Inhibitors Phase 1
16 Protective Agents Phase 1
17 Autonomic Agents Phase 1
18 Antidotes Phase 1
19 Expectorants Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Randomized, Multicenter, Multinational, Double-Blind, Placebo-Controlled, Study of the Effect of SR57667B on Dopaminergic Nigro-Striatal Function Assessed by 18F-Dopa PET Imaging in Outpatients With Early Parkinson's Disease Completed NCT00220272 Phase 2 SR57667B
2 Does N-Acetylcysteine Decrease Spontaneous Oxidation of Central Neural Dopamine in Parkinson's Disease? Recruiting NCT03104725 Phase 1 N-Acetylcysteine

Search NIH Clinical Center for Parkinson Disease 5, Autosomal Dominant

Genetic Tests for Parkinson Disease 5, Autosomal Dominant

Genetic tests related to Parkinson Disease 5, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 5 29 UCHL1
2 Parkinson Disease 5, Susceptibility to 29

Anatomical Context for Parkinson Disease 5, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 5, Autosomal Dominant:

40
Brain, Thalamus

Publications for Parkinson Disease 5, Autosomal Dominant

Articles related to Parkinson Disease 5, Autosomal Dominant:

(show all 13)
# Title Authors PMID Year
1
UCHL-1 is not a Parkinson's disease susceptibility gene. 56 6
16450370 2006
2
The ubiquitin pathway in Parkinson's disease. 56 6
9774100 1998
3
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 6
23279440 2013
4
Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts. 6
21268678 2011
5
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells. 6
18411255 2008
6
Parkinson Disease Overview 6
20301402 2004
7
UCHL1 is a Parkinson's disease susceptibility gene. 6
15048890 2004
8
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. 6
12408865 2002
9
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease. 6
10203348 1999
10
The 100 Most-Cited Articles About Convection-Enhanced Delivery to the Brain: A Bibliometric Analysis. 61
31150865 2019
11
Changes in the thalamus in atypical parkinsonism detected using shape analysis and diffusion tensor imaging. 61
24356677 2014
12
Cause-specific mortality among spouses of Parkinson disease patients. 61
24378369 2014
13
[Pathophysiological analysis of dropped head syndrome caused by various diagnoses - based on surface EMG findings and responses to physiotherapy]. 61
23782820 2013

Variations for Parkinson Disease 5, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 5, Autosomal Dominant:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UCHL1 NM_004181.5(UCHL1):c.279C>G (p.Ile93Met)SNV risk factor 12297 rs121917767 4:41262768-41262768 4:41260751-41260751
2 UCHL1 NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)SNV Benign 12298 rs5030732 4:41259633-41259633 4:41257616-41257616

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

73
# Symbol AA change Variation ID SNP ID
1 UCHL1 p.Ile93Met VAR_015678 rs121917767

Expression for Parkinson Disease 5, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 5, Autosomal Dominant.

Pathways for Parkinson Disease 5, Autosomal Dominant

GO Terms for Parkinson Disease 5, Autosomal Dominant

Sources for Parkinson Disease 5, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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