MCID: PRK081
MIFTS: 24

Parkinson Disease 19a, Juvenile-Onset

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

Aliases & Classifications for Parkinson Disease 19a, Juvenile-Onset

MalaCards integrated aliases for Parkinson Disease 19a, Juvenile-Onset:

Name: Parkinson Disease 19a, Juvenile-Onset 53 71 28
Parkinson Disease 19b, Early-Onset 53 71
Park19a 53 71
Juvenile Onset Parkinson Disease 19a 12
Parkinson Disease 19, Juvenile-Onset 69
Park19, Formerly 53
Park19b 71
Park19 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset of parkinsonism in first decade (park19a)
rapidly progressive (park19a)
patients become wheelchair-bound about 10 years after onset (park19a)
onset in third to fifth decade (park19b)
slowly progressive (park19b)
good response to dopaminergic treatment (park19b)


HPO:

31
parkinson disease 19a, juvenile-onset:
Onset and clinical course rapidly progressive slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Parkinson Disease 19a, Juvenile-Onset

UniProtKB/Swiss-Prot : 71 Parkinson disease 19A, juvenile-onset: A juvenile form of 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. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including mental retardation and seizures. Parkinson disease 19B, early-onset: An early-onset form of 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. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive.

MalaCards based summary : Parkinson Disease 19a, Juvenile-Onset, is also known as parkinson disease 19b, early-onset, and has symptoms including seizures, tremor and dystonia. An important gene associated with Parkinson Disease 19a, Juvenile-Onset is DNAJC6 (DnaJ Heat Shock Protein Family (Hsp40) Member C6). Affiliated tissues include brain.

Disease Ontology : 12 A Parkinson's disease that has material basis in homozygous mutation in the DNAJC6 gene on chromosome 1p31.

OMIM : 53 Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013). Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). (615528)

Symptoms & Phenotypes for Parkinson Disease 19a, Juvenile-Onset

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor
bradykinesia
dysarthria
rigidity
parkinsonism
more
Head And Neck Eyes:
hypometric saccades (in 1 patient with park19a)

Head And Neck Face:
masked facies


Clinical features from OMIM:

615528

Human phenotypes related to Parkinson Disease 19a, Juvenile-Onset:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 tremor 31 HP:0001337
3 dystonia 31 occasional (7.5%) HP:0001332
4 bradykinesia 31 HP:0002067
5 abnormal pyramidal signs 31 occasional (7.5%) HP:0007256
6 intellectual disability 31 occasional (7.5%) HP:0001249
7 spasticity 31 HP:0001257
8 dysarthria 31 HP:0001260
9 hallucinations 31 HP:0000738
10 cognitive impairment 31 HP:0100543
11 rigidity 31 HP:0002063
12 parkinsonism 31 HP:0001300
13 postural instability 31 HP:0002172
14 shuffling gait 31 HP:0002362
15 hypometric saccades 31 occasional (7.5%) HP:0000571

UMLS symptoms related to Parkinson Disease 19a, Juvenile-Onset:


muscle rigidity, tremor, bradykinesia

Drugs & Therapeutics for Parkinson Disease 19a, Juvenile-Onset

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 19a, Juvenile-Onset

Genetic Tests for Parkinson Disease 19a, Juvenile-Onset

Genetic tests related to Parkinson Disease 19a, Juvenile-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 19a, Juvenile-Onset 28 DNAJC6

Anatomical Context for Parkinson Disease 19a, Juvenile-Onset

MalaCards organs/tissues related to Parkinson Disease 19a, Juvenile-Onset:

38
Brain

Publications for Parkinson Disease 19a, Juvenile-Onset

Variations for Parkinson Disease 19a, Juvenile-Onset

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 19a, Juvenile-Onset:

71
# Symbol AA change Variation ID SNP ID
1 DNAJC6 p.Arg870Gly VAR_077929 rs879255630

ClinVar genetic disease variations for Parkinson Disease 19a, Juvenile-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC6 NM_001256864.1(DNAJC6): c.801-2A> G single nucleotide variant Pathogenic rs398122404 GRCh37 Chromosome 1, 65851393: 65851393
2 DNAJC6 NM_001256865.1(DNAJC6): c.2200C> T (p.Gln734Ter) single nucleotide variant Pathogenic rs398122405 GRCh37 Chromosome 1, 65871735: 65871735
3 DNAJC6 NM_001256865.1(DNAJC6): c.2569A> G (p.Arg857Gly) single nucleotide variant Pathogenic rs879255630 GRCh38 Chromosome 1, 65411394: 65411394
4 DNAJC6 NM_001256865.1(DNAJC6): c.2013A> T (p.Thr671=) single nucleotide variant Pathogenic rs879255554 GRCh37 Chromosome 1, 65867559: 65867559
5 DNAJC6 NM_001256865.1(DNAJC6): c.2326C> T (p.Gln776Ter) single nucleotide variant Pathogenic rs886039854 GRCh37 Chromosome 1, 65874368: 65874368

Expression for Parkinson Disease 19a, Juvenile-Onset

Search GEO for disease gene expression data for Parkinson Disease 19a, Juvenile-Onset.

Pathways for Parkinson Disease 19a, Juvenile-Onset

GO Terms for Parkinson Disease 19a, Juvenile-Onset

Sources for Parkinson Disease 19a, Juvenile-Onset

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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