MCID: PRK070
MIFTS: 22

Parkinson Disease 21

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

Aliases & Classifications for Parkinson Disease 21

MalaCards integrated aliases for Parkinson Disease 21:

Name: Parkinson Disease 21 57 75 29 6
Park21 57 75
Parkinson Disease, Type 21 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
parkinson disease 21:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Parkinson Disease 21

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Parkinson Disease 21 is DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13). Affiliated tissues include brain, and related phenotypes are tremor and rigidity

OMIM : 57 Parkinson disease-21 (PARK21) 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)

Related Diseases for Parkinson Disease 21

Symptoms & Phenotypes for Parkinson Disease 21

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
parkinsonism
tremor
bradykinesia
rigidity
postural instability
more

Clinical features from OMIM:

616361

Human phenotypes related to Parkinson Disease 21:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 rigidity 32 HP:0002063
3 bradykinesia 32 HP:0002067
4 parkinsonism 32 HP:0001300
5 postural instability 32 HP:0002172
6 lewy bodies 32 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 29 DNAJC13

Anatomical Context for Parkinson Disease 21

MalaCards organs/tissues related to Parkinson Disease 21:

41
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
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
Content
Loading form....