MCID: PRK098
MIFTS: 16

Parkinson Disease 5, Autosomal Dominant

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

Aliases & Classifications for Parkinson Disease 5, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 5, Autosomal Dominant:

Name: Parkinson Disease 5, Autosomal Dominant 57 73
Parkinson Disease 5 57 75 29 6 73
Parkinson Disease 5, Autosomal Dominant, Susceptibility to 57 75
Parkinson Disease 5, Susceptibility to 57 13
Park5 57 75
Parkinson Disease Autosomal Dominant 5 75
Parkinson Disease, Type 5 40

Classifications:



External Ids:

OMIM 57 613643
MedGen 42 C3150899
MeSH 44 D010300

Summaries for Parkinson Disease 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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).

Description from OMIM: 613643

Symptoms & Phenotypes for Parkinson Disease 5, Autosomal Dominant

Clinical features from OMIM:

613643

Drugs & Therapeutics for Parkinson Disease 5, Autosomal Dominant

Search Clinical Trials , 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

Anatomical Context for Parkinson Disease 5, Autosomal Dominant

Publications for Parkinson Disease 5, Autosomal Dominant

Variations for Parkinson Disease 5, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 UCHL1 p.Ile93Met VAR_015678 rs121917767

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

6
# 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
2 UCHL1 NM_004181.4(UCHL1): c.279C> G (p.Ile93Met) single nucleotide variant risk factor rs121917767 GRCh38 Chromosome 4, 41260751: 41260751

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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