MCID: PRK070
MIFTS: 22

Parkinson Disease 21

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

Aliases & Classifications for Parkinson Disease 21

MalaCards integrated aliases for Parkinson Disease 21:

Name: Parkinson Disease 21 53 71 28
Park21 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
late-adult onset
younger onset rarely reported
slowly progressive
good response to levodopa treatment


HPO:

31
parkinson disease 21:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Parkinson Disease 21

UniProtKB/Swiss-Prot : 71 Parkinson disease 21: An autosomal dominant form of adult-onset Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 21, also known as park21, is related to parkinson disease, late-onset, and has symptoms including tremor, bradykinesia and rigidity. An important gene associated with Parkinson Disease 21 is DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13). Affiliated tissues include brain.

OMIM : 53 Parkinson disease-21 is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by Vilarino-Guell et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). (616361)

Symptoms & Phenotypes for Parkinson Disease 21

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
parkinsonism
tremor
bradykinesia
rigidity
postural instability
more

Clinical features from OMIM:

616361

Human phenotypes related to Parkinson Disease 21:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 bradykinesia 31 HP:0002067
3 rigidity 31 HP:0002063
4 parkinsonism 31 HP:0001300
5 postural instability 31 HP:0002172
6 lewy bodies 31 HP:0100315

Drugs & Therapeutics for Parkinson Disease 21

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 21

Genetic Tests for Parkinson Disease 21

Genetic tests related to Parkinson Disease 21:

# Genetic test Affiliating Genes
1 Parkinson Disease 21 28 DNAJC13

Anatomical Context for Parkinson Disease 21

MalaCards organs/tissues related to Parkinson Disease 21:

38
Brain

Publications for Parkinson Disease 21

Variations for Parkinson Disease 21

Expression for Parkinson Disease 21

Search GEO for disease gene expression data for Parkinson Disease 21.

Pathways for Parkinson Disease 21

GO Terms for Parkinson Disease 21

Sources for Parkinson Disease 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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