PARK19A
MCID: PRK081
MIFTS: 27

Parkinson Disease 19a, Juvenile-Onset (PARK19A)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 72 29 6
Parkinson Disease 19b, Early-Onset 57 72 29 6
Park19a 57 72
Juvenile Onset Parkinson's Disease 19a 12
Juvenile Onset Parkinson Disease 19a 12
Parkinson Disease 19, Juvenile-Onset 70
Parkinson's Disease 19a 12
Park19, Formerly 57
Park19b 72
Park19 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive slow progression


Classifications:



Summaries for Parkinson Disease 19a, Juvenile-Onset

UniProtKB/Swiss-Prot : 72 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 tremor, bradykinesia and muscle rigidity. An important gene associated with Parkinson Disease 19a, Juvenile-Onset is DNAJC6 (DnaJ Heat Shock Protein Family (Hsp40) Member C6). Related phenotypes are intellectual disability and abnormal pyramidal sign

Disease Ontology : 12 An early-onset Parkinson's diseas 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) (Updated 05-Apr-2021)

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

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
tremor
rigidity
postural instability
parkinsonism
more
Head And Neck Eyes:
hypometric saccades (in 1 patient with park19a)

Head And Neck Face:
masked facies

Clinical features from OMIM®:

615528 (Updated 05-Apr-2021)

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


tremor; bradykinesia; muscle rigidity

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
2 Parkinson Disease 19b, Early-Onset 29

Anatomical Context for Parkinson Disease 19a, Juvenile-Onset

Publications for Parkinson Disease 19a, Juvenile-Onset

Articles related to Parkinson Disease 19a, Juvenile-Onset:

# Title Authors PMID Year
1
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. 6 57
26528954 2016
2
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. 57 6
26703368 2016
3
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. 57 6
23211418 2013
4
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. 6 57
22563501 2012
5
Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain. 6
24220513 2014
6
Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons. 61
28231468 2017

Variations for Parkinson Disease 19a, Juvenile-Onset

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

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC6 NM_001256864.2(DNAJC6):c.801-2A>G SNV Pathogenic 88854 rs398122404 GRCh37: 1:65851393-65851393
GRCh38: 1:65385710-65385710
2 DNAJC6 NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) SNV Pathogenic 88855 rs398122405 GRCh37: 1:65871735-65871735
GRCh38: 1:65406052-65406052
3 DNAJC6 NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) SNV Pathogenic 253094 rs879255630 GRCh37: 1:65877077-65877077
GRCh38: 1:65411394-65411394
4 DNAJC6 NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) SNV Pathogenic 253095 rs879255554 GRCh37: 1:65867559-65867559
GRCh38: 1:65401876-65401876
5 DNAJC6 NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter) SNV Pathogenic 265964 rs886039854 GRCh37: 1:65874368-65874368
GRCh38: 1:65408685-65408685
6 DNAJC6 NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter) SNV Pathogenic 219301 rs864622011 GRCh37: 1:65831790-65831790
GRCh38: 1:65366107-65366107
7 DNAJC6 NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) SNV Pathogenic 976692 GRCh37: 1:65851582-65851582
GRCh38: 1:65385899-65385899
8 DNAJC6 NM_001256864.2(DNAJC6):c.2020C>T (p.Pro674Ser) SNV Uncertain significance 953330 GRCh37: 1:65860697-65860697
GRCh38: 1:65395014-65395014
9 DNAJC6 NM_001256864.2(DNAJC6):c.674G>A (p.Arg225Gln) SNV Uncertain significance 969368 GRCh37: 1:65849883-65849883
GRCh38: 1:65384200-65384200
10 DNAJC6 NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu) SNV Uncertain significance 664983 rs747115530 GRCh37: 1:65775598-65775598
GRCh38: 1:65309915-65309915
11 DNAJC6 NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His) SNV Uncertain significance 861071 GRCh37: 1:65871793-65871793
GRCh38: 1:65406110-65406110
12 DNAJC6 NM_001256864.2(DNAJC6):c.677C>T (p.Ala226Val) SNV Uncertain significance 935514 GRCh37: 1:65849886-65849886
GRCh38: 1:65384203-65384203
13 DNAJC6 NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val) SNV Uncertain significance 623687 rs200712827 GRCh37: 1:65852538-65852538
GRCh38: 1:65386855-65386855
14 DNAJC6 NM_001256864.2(DNAJC6):c.101G>C (p.Gly34Ala) SNV Uncertain significance 1004818 GRCh37: 1:65775529-65775529
GRCh38: 1:65309846-65309846
15 DNAJC6 NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg) SNV Uncertain significance 474678 rs1462099424 GRCh37: 1:65864543-65864543
GRCh38: 1:65398860-65398860
16 DNAJC6 NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu) SNV Uncertain significance 663145 rs61757223 GRCh37: 1:65831733-65831733
GRCh38: 1:65366050-65366050
17 DNAJC6 NM_001256864.2(DNAJC6):c.1831G>A (p.Ala611Thr) SNV Uncertain significance 1024855 GRCh37: 1:65858476-65858476
GRCh38: 1:65392793-65392793
18 DNAJC6 NM_001256864.2(DNAJC6):c.521G>A (p.Arg174Gln) SNV Uncertain significance 845295 GRCh37: 1:65831857-65831857
GRCh38: 1:65366174-65366174
19 DNAJC6 NM_001256864.2(DNAJC6):c.833A>G (p.Asp278Gly) SNV Uncertain significance 541543 rs368290134 GRCh37: 1:65851427-65851427
GRCh38: 1:65385744-65385744
20 DNAJC6 NC_000001.11:g.(?_65388326)_(65413035_?)dup Duplication Uncertain significance 830927 GRCh37: 1:65854009-65878718
GRCh38:
21 DNAJC6 NM_001256864.2(DNAJC6):c.926G>A (p.Arg309His) SNV Uncertain significance 844109 GRCh37: 1:65851520-65851520
GRCh38: 1:65385837-65385837
22 DNAJC6 NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly) SNV Uncertain significance 851922 GRCh37: 1:65864501-65864501
GRCh38: 1:65398818-65398818
23 DNAJC6 NM_001256864.2(DNAJC6):c.2290C>T (p.Leu764Phe) SNV Uncertain significance 474679 rs917235831 GRCh37: 1:65871615-65871615
GRCh38: 1:65405932-65405932
24 DNAJC6 NM_001256864.2(DNAJC6):c.2468G>C (p.Arg823Pro) SNV Uncertain significance 569095 rs201984806 GRCh37: 1:65871793-65871793
GRCh38: 1:65406110-65406110
25 DNAJC6 NM_001256864.2(DNAJC6):c.175A>G (p.Ser59Gly) SNV Uncertain significance 641135 rs1296532855 GRCh37: 1:65775603-65775603
GRCh38: 1:65309920-65309920
26 DNAJC6 NM_001256864.2(DNAJC6):c.2228-3T>C SNV Uncertain significance 648740 rs753885398 GRCh37: 1:65871550-65871550
GRCh38: 1:65405867-65405867
27 DNAJC6 NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser) SNV Likely benign 704007 rs113143702 GRCh37: 1:65871579-65871579
GRCh38: 1:65405896-65405896
28 DNAJC6 NM_001256864.2(DNAJC6):c.186C>T (p.Asp62=) SNV Likely benign 705033 rs371984320 GRCh37: 1:65775614-65775614
GRCh38: 1:65309931-65309931
29 DNAJC6 NM_001256864.2(DNAJC6):c.1374G>A (p.Thr458=) SNV Likely benign 705046 rs148673423 GRCh37: 1:65855119-65855119
GRCh38: 1:65389436-65389436
30 DNAJC6 NM_001256864.2(DNAJC6):c.2838C>T (p.Tyr946=) SNV Likely benign 474680 rs148209150 GRCh37: 1:65878633-65878633
GRCh38: 1:65412950-65412950
31 DNAJC6 NM_001256864.2(DNAJC6):c.1350T>C (p.Ser450=) SNV Likely benign 706557 rs202109326 GRCh37: 1:65855095-65855095
GRCh38: 1:65389412-65389412
32 DNAJC6 NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser) SNV Likely benign 706821 rs191459935 GRCh37: 1:65858222-65858222
GRCh38: 1:65392539-65392539
33 DNAJC6 NM_001256864.2(DNAJC6):c.1182A>G (p.Leu394=) SNV Likely benign 706823 rs148145327 GRCh37: 1:65854087-65854087
GRCh38: 1:65388404-65388404
34 DNAJC6 NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser) SNV Likely benign 703945 rs145329294 GRCh37: 1:65858137-65858137
GRCh38: 1:65392454-65392454
35 DNAJC6 NM_001256864.2(DNAJC6):c.194-5G>T SNV Likely benign 474676 rs753576283 GRCh37: 1:65830313-65830313
GRCh38: 1:65364630-65364630
36 DNAJC6 NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val) SNV Benign 541544 rs149588872 GRCh37: 1:65849954-65849954
GRCh38: 1:65384271-65384271
37 DNAJC6 NM_001256864.2(DNAJC6):c.996-9T>C SNV Benign 541545 rs187965193 GRCh37: 1:65852486-65852486
GRCh38: 1:65386803-65386803
38 DNAJC6 NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) SNV Benign 445731 rs78141380 GRCh37: 1:65855298-65855298
GRCh38: 1:65389615-65389615
39 DNAJC6 NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) SNV Benign 474681 rs61753391 GRCh37: 1:65849887-65849887
GRCh38: 1:65384204-65384204
40 DNAJC6 NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=) SNV Benign 705664 rs148204207 GRCh37: 1:65831849-65831849
GRCh38: 1:65366166-65366166
41 DNAJC6 NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=) SNV Benign 702187 rs142136708 GRCh37: 1:65855065-65855065
GRCh38: 1:65389382-65389382
42 DNAJC6 NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=) SNV Benign 703807 rs7551930 GRCh37: 1:65858355-65858355
GRCh38: 1:65392672-65392672

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

72
# Symbol AA change Variation ID SNP ID
1 DNAJC6 p.Arg870Gly VAR_077929 rs879255630

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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56 OMIM via Orphanet
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61 PubMed
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71 UMLS via Orphanet
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