MCID: PRK081
MIFTS: 24

Parkinson Disease 19a, Juvenile-Onset

Categories: Genetic diseases, Neuronal diseases, Rare 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 57 75 29 6
Parkinson Disease 19b, Early-Onset 57 75 6
Park19a 57 75
Juvenile Onset Parkinson's Disease 19a 12
Juvenile Onset Parkinson Disease 19a 12
Parkinson Disease 19, Juvenile-Onset 73
Park19, Formerly 57
Park19b 75
Park19 75

Characteristics:

OMIM:

57
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 slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Parkinson Disease 19a, Juvenile-Onset

UniProtKB/Swiss-Prot : 75 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 muscle rigidity, tremor and bradykinesia. An important gene associated with Parkinson Disease 19a, Juvenile-Onset is DNAJC6 (DnaJ Heat Shock Protein Family (Hsp40) Member C6). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

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

OMIM : 57 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:

57
Neurologic Central Nervous System:
dysarthria
tremor
rigidity
bradykinesia
shuffling gait
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 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 spasticity 32 HP:0001257
4 dysarthria 32 HP:0001260
5 tremor 32 HP:0001337
6 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256
7 hallucinations 32 HP:0000738
8 cognitive impairment 32 HP:0100543
9 dystonia 32 occasional (7.5%) HP:0001332
10 rigidity 32 HP:0002063
11 bradykinesia 32 HP:0002067
12 shuffling gait 32 HP:0002362
13 parkinsonism 32 HP:0001300
14 hypometric saccades 32 occasional (7.5%) HP:0000571
15 postural instability 32 HP:0002172

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 29 DNAJC6

Anatomical Context for Parkinson Disease 19a, Juvenile-Onset

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

41
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:

75
# 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
(show all 30)
# 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_001256864.1(DNAJC6): c.801-2A> G single nucleotide variant Pathogenic rs398122404 GRCh38 Chromosome 1, 65385710: 65385710
3 DNAJC6 NM_001256865.1(DNAJC6): c.2200C> T (p.Gln734Ter) single nucleotide variant Pathogenic rs398122405 GRCh37 Chromosome 1, 65871735: 65871735
4 DNAJC6 NM_001256865.1(DNAJC6): c.2200C> T (p.Gln734Ter) single nucleotide variant Pathogenic rs398122405 GRCh38 Chromosome 1, 65406052: 65406052
5 DNAJC6 NM_001256865.1(DNAJC6): c.2569A> G (p.Arg857Gly) single nucleotide variant Pathogenic rs879255630 GRCh38 Chromosome 1, 65411394: 65411394
6 DNAJC6 NM_001256865.1(DNAJC6): c.2569A> G (p.Arg857Gly) single nucleotide variant Pathogenic rs879255630 GRCh37 Chromosome 1, 65877077: 65877077
7 DNAJC6 NM_001256865.1(DNAJC6): c.2013A> T (p.Thr671=) single nucleotide variant Pathogenic rs879255554 GRCh37 Chromosome 1, 65867559: 65867559
8 DNAJC6 NM_001256865.1(DNAJC6): c.2013A> T (p.Thr671=) single nucleotide variant Pathogenic rs879255554 GRCh38 Chromosome 1, 65401876: 65401876
9 DNAJC6 NM_001256865.1(DNAJC6): c.2326C> T (p.Gln776Ter) single nucleotide variant Pathogenic rs886039854 GRCh37 Chromosome 1, 65874368: 65874368
10 DNAJC6 NM_001256865.1(DNAJC6): c.2326C> T (p.Gln776Ter) single nucleotide variant Pathogenic rs886039854 GRCh38 Chromosome 1, 65408685: 65408685
11 DNAJC6 NM_001256864.1(DNAJC6): c.1456C> T (p.Leu486Phe) single nucleotide variant Benign/Likely benign rs78141380 GRCh37 Chromosome 1, 65855298: 65855298
12 DNAJC6 NM_001256864.1(DNAJC6): c.1456C> T (p.Leu486Phe) single nucleotide variant Benign/Likely benign rs78141380 GRCh38 Chromosome 1, 65389615: 65389615
13 DNAJC6 NM_001256864.1(DNAJC6): c.2838C> T (p.Tyr946=) single nucleotide variant Likely benign rs148209150 GRCh37 Chromosome 1, 65878633: 65878633
14 DNAJC6 NM_001256864.1(DNAJC6): c.2838C> T (p.Tyr946=) single nucleotide variant Likely benign rs148209150 GRCh38 Chromosome 1, 65412950: 65412950
15 DNAJC6 NM_001256864.1(DNAJC6): c.194-5G> T single nucleotide variant Likely benign rs753576283 GRCh37 Chromosome 1, 65830313: 65830313
16 DNAJC6 NM_001256864.1(DNAJC6): c.194-5G> T single nucleotide variant Likely benign rs753576283 GRCh38 Chromosome 1, 65364630: 65364630
17 DNAJC6 NM_001256864.1(DNAJC6): c.678G> A (p.Ala226=) single nucleotide variant Benign rs61753391 GRCh37 Chromosome 1, 65849887: 65849887
18 DNAJC6 NM_001256864.1(DNAJC6): c.678G> A (p.Ala226=) single nucleotide variant Benign rs61753391 GRCh38 Chromosome 1, 65384204: 65384204
19 DNAJC6 NM_001256864.1(DNAJC6): c.2025G> T (p.Ser675=) single nucleotide variant Likely benign rs185245369 GRCh37 Chromosome 1, 65860702: 65860702
20 DNAJC6 NM_001256864.1(DNAJC6): c.2025G> T (p.Ser675=) single nucleotide variant Likely benign rs185245369 GRCh38 Chromosome 1, 65395019: 65395019
21 DNAJC6 NM_001256864.1(DNAJC6): c.2086T> C (p.Trp696Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 65864543: 65864543
22 DNAJC6 NM_001256864.1(DNAJC6): c.2086T> C (p.Trp696Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 65398860: 65398860
23 DNAJC6 NM_001256864.1(DNAJC6): c.2290C> T (p.Leu764Phe) single nucleotide variant Uncertain significance rs917235831 GRCh37 Chromosome 1, 65871615: 65871615
24 DNAJC6 NM_001256864.1(DNAJC6): c.2290C> T (p.Leu764Phe) single nucleotide variant Uncertain significance rs917235831 GRCh38 Chromosome 1, 65405932: 65405932
25 DNAJC6 NM_001256864.1(DNAJC6): c.833A> G (p.Asp278Gly) single nucleotide variant Uncertain significance rs368290134 GRCh37 Chromosome 1, 65851427: 65851427
26 DNAJC6 NM_001256864.1(DNAJC6): c.833A> G (p.Asp278Gly) single nucleotide variant Uncertain significance rs368290134 GRCh38 Chromosome 1, 65385744: 65385744
27 DNAJC6 NM_001256864.1(DNAJC6): c.745A> G (p.Ile249Val) single nucleotide variant Benign rs149588872 GRCh37 Chromosome 1, 65849954: 65849954
28 DNAJC6 NM_001256864.1(DNAJC6): c.745A> G (p.Ile249Val) single nucleotide variant Benign rs149588872 GRCh38 Chromosome 1, 65384271: 65384271
29 DNAJC6 NM_001256864.1(DNAJC6): c.996-9T> C single nucleotide variant Benign rs187965193 GRCh37 Chromosome 1, 65852486: 65852486
30 DNAJC6 NM_001256864.1(DNAJC6): c.996-9T> C single nucleotide variant Benign rs187965193 GRCh38 Chromosome 1, 65386803: 65386803

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

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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