Parkinson Disease 20, Early-onset; Park20

Description

Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Parkinson Disease 20, Early-onset; Park20

  • Seizures
  • Dysarthria
  • Tremor
  • Dysphagia
  • Dystonia
  • Constipation
  • Cerebral cortical atrophy
  • Rigidity
  • Mental deterioration
  • Abnormality of the eye

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Parkinson Disease 20, Early-onset; Park20 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
SYNJ1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SYNJ1
Specificity
100 %
Genes
100 %
Parkinson disease 20 (PARK20, sequence analysis of SYNJ1 gene).

By CGC Genetics (Portugal).

SYNJ1
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics (Portugal).

SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

You can get up to 21 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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