PARK5
MCID: PRK098
MIFTS: 28

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 and Dopamine agonists 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:
postural instability
bradykinesia
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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2 Dopamine agonists Phase 2
3 Dihydroxyphenylalanine Phase 2
4
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
5
Cysteine Approved, Nutraceutical Phase 1 52-90-4 5862
6 Respiratory System Agents Phase 1
7 Anti-Infective Agents Phase 1
8 Antioxidants Phase 1
9 Antidotes Phase 1
10 Antiviral Agents Phase 1
11 Monoamine Oxidase Inhibitors Phase 1
12 Expectorants Phase 1
13 Protective Agents Phase 1
14 N-monoacetylcystine 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? Completed 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 14)
# Title Authors PMID Year
1
UCHL-1 is not a Parkinson's disease susceptibility gene. 6 56
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
Aberrant interaction between Parkinson disease-associated mutant UCH-L1 and the lysosomal receptor for chaperone-mediated autophagy. 6
18550537 2008
6
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells. 6
18411255 2008
7
Parkinson Disease Overview 6
20301402 2004
8
UCHL1 is a Parkinson's disease susceptibility gene. 6
15048890 2004
9
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. 6
12408865 2002
10
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease. 6
10203348 1999
11
The 100 Most-Cited Articles About Convection-Enhanced Delivery to the Brain: A Bibliometric Analysis. 61
31150865 2019
12
Changes in the thalamus in atypical parkinsonism detected using shape analysis and diffusion tensor imaging. 61
24356677 2014
13
Cause-specific mortality among spouses of Parkinson disease patients. 61
24378369 2014
14
[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 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.370A>C (p.Met124Leu)SNV Conflicting interpretations of pathogenicity 252624 rs150601238 4:41263776-41263776 4:41261759-41261759
3 UCHL1 NM_004181.5(UCHL1):c.412-4G>ASNV Conflicting interpretations of pathogenicity 731878 4:41263889-41263889 4:41261872-41261872
4 UCHL1 NC_000004.12:g.41256918C>GSNV Uncertain significance 901591 4:41258935-41258935 4:41256918-41256918
5 UCHL1 NC_000004.12:g.41256926C>ASNV Uncertain significance 901592 4:41258943-41258943 4:41256926-41256926
6 UCHL1 NM_004181.5(UCHL1):c.-46T>CSNV Uncertain significance 903523 4:41258948-41258948 4:41256931-41256931
7 UCHL1 NM_004181.5(UCHL1):c.-26C>TSNV Uncertain significance 903524 4:41258968-41258968 4:41256951-41256951
8 UCHL1 NM_004181.5(UCHL1):c.-25T>CSNV Uncertain significance 903525 4:41258969-41258969 4:41256952-41256952
9 UCHL1 NM_004181.5(UCHL1):c.-17C>TSNV Uncertain significance 903526 4:41258977-41258977 4:41256960-41256960
10 UCHL1 NM_004181.5(UCHL1):c.223G>A (p.Val75Ile)SNV Uncertain significance 899925 4:41262712-41262712 4:41260695-41260695
11 UCHL1 NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)SNV Uncertain significance 901094 4:41263938-41263938 4:41261921-41261921
12 UCHL1 NM_004181.5(UCHL1):c.*84C>GSNV Uncertain significance 901096 4:41270174-41270174 4:41268157-41268157
13 UCHL1 NM_004181.5(UCHL1):c.*250T>CSNV Uncertain significance 901642 4:41270340-41270340 4:41268323-41268323
14 UCHL1 NM_004181.5(UCHL1):c.*125C>TSNV Uncertain significance 348776 rs886059408 4:41270215-41270215 4:41268198-41268198
15 UCHL1 NM_004181.5(UCHL1):c.174+6G>ASNV Uncertain significance 899924 4:41259760-41259760 4:41257743-41257743
16 UCHL1 NM_004181.5(UCHL1):c.586-4C>ASNV Uncertain significance 901095 4:41270000-41270000 4:41267983-41267983
17 UCHL1 NM_004181.5(UCHL1):c.33+5G>CSNV Uncertain significance 348768 rs886059407 4:41259031-41259031 4:41257014-41257014
18 UCHL1 NM_004181.5(UCHL1):c.-47C>TSNV Uncertain significance 348765 rs752001613 4:41258947-41258947 4:41256930-41256930
19 UCHL1 NM_004181.5(UCHL1):c.527-3C>TSNV Uncertain significance 348773 rs749663332 4:41266117-41266117 4:41264100-41264100
20 UCHL1 NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)SNV Uncertain significance 375649 rs768996179 4:41266126-41266126 4:41264109-41264109
21 UCHL1 NM_004181.5(UCHL1):c.513C>T (p.His171=)SNV Likely benign 348772 rs145093131 4:41265295-41265295 4:41263278-41263278
22 UCHL1 NM_004181.5(UCHL1):c.69C>T (p.Ala23=)SNV Likely benign 771361 4:41259649-41259649 4:41257632-41257632
23 UCHL1 NM_004181.5(UCHL1):c.*276T>ASNV Likely benign 901643 4:41270366-41270366 4:41268349-41268349
24 UCHL1 NM_004181.5(UCHL1):c.175-5C>TSNV Benign/Likely benign 348770 rs373327947 4:41262659-41262659 4:41260642-41260642
25 UCHL1 NM_004181.5(UCHL1):c.*309T>CSNV Benign 348778 rs78683791 4:41270399-41270399 4:41268382-41268382
26 UCHL1 NM_004181.4(UCHL1):c.-71C>GSNV Benign 348764 rs201100258 4:41258923-41258923 4:41256906-41256906
27 UCHL1 NM_004181.5(UCHL1):c.-24A>GSNV Benign 348766 rs11556271 4:41258970-41258970 4:41256953-41256953
28 UCHL1 NM_004181.5(UCHL1):c.558C>T (p.Gly186=)SNV Benign 348774 rs116680633 4:41266151-41266151 4:41264134-41264134
29 UCHL1 NM_004181.5(UCHL1):c.*294G>ASNV Benign 348777 rs116700032 4:41270384-41270384 4:41268367-41268367
30 UCHL1 NM_004181.5(UCHL1):c.609A>G (p.Glu203=)SNV Benign 348775 rs147661219 4:41270027-41270027 4:41268010-41268010
31 UCHL1 NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)SNV Benign 12298 rs5030732 4:41259633-41259633 4:41257616-41257616
32 UCHL1 NM_004181.5(UCHL1):c.45+6T>CSNV Benign 348769 rs11556273 4:41259149-41259149 4:41257132-41257132
33 UCHL1 NM_004181.5(UCHL1):c.-16C>TSNV Benign 348767 rs9321 4:41258978-41258978 4:41256961-41256961

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
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11 DGIdb
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68 SNOMED-CT via HPO
69 TGDB
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72 UMLS via Orphanet
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