MCID: PRK081
MIFTS: 26

Parkinson Disease 19a, Juvenile-Onset

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare 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 54 71 29
Parkinson Disease 19b, Early-Onset 54 71
Juvenile Onset Parkinson Disease 19a 12
Parkinson Disease 19, Juvenile-Onset 69
Park19a 71
Park19b 71
Park19 71

Characteristics:

OMIM:

54
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:

32
parkinson disease 19a, juvenile-onset:
Onset and clinical course rapidly progressive
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 dystonia, dysarthria and tremor. 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 : 54
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:

54

Neurologic- Central Nervous System:
dysarthria
tremor
masked facies
parkinsonism
bradykinesia
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:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 occasional (7.5%) HP:0001332
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 seizures 32 occasional (7.5%) HP:0001250
5 parkinsonism 32 HP:0001300
6 bradykinesia 32 HP:0002067
7 rigidity 32 HP:0002063
8 shuffling gait 32 HP:0002362
9 postural instability 32 HP:0002172
10 intellectual disability 32 occasional (7.5%) HP:0001249
11 hypometric saccades 32 occasional (7.5%) HP:0000571
12 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256

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:

id Genetic test Affiliating Genes
1 Parkinson Disease 19a, Juvenile-Onset 29

Anatomical Context for Parkinson Disease 19a, Juvenile-Onset

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

39
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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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