 PRKRA gene related symptoms and diseases
	PRKRA gene related symptoms and diseases
All the information presented here about the PRKRA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRKRA gene
| Symptoms // Phenotype | % Cases | 
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases | 
| Limb dystonia | Very Common - Between 80% and 100% cases | 
| Torticollis | Very Common - Between 80% and 100% cases | 
| Ischemic stroke | Very Common - Between 80% and 100% cases | 
| Dysphonia | Very Common - Between 80% and 100% cases | 
Other less frequent symptoms and clinical features
Patients with PRKRA gene alterations may also develop some of the following symptoms and phenotypes:- Commonly - More than 50% cases
- Language impairment
- Postural tremor
- Akinesia
- Generalized dystonia
- Bradykinesia
- Morphological abnormality of the pyramidal tract
- Orofacial dyskinesia
- Laryngeal dystonia
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRKRA gene
Here you will find a list of rare diseases related to the PRKRA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DYSTONIA 16
Alternate names
DYSTONIA 16 Is also known as dyt16, early-onset dystonia parkinsonism
Description
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Most common symptoms of DYSTONIA 16
- Intellectual disability
- Global developmental delay
- Pain
- Cognitive impairment
- Delayed speech and language development
More info about DYSTONIA 16
Search interest in PRKRA
Potential gene panels for PRKRA gene
PRKRA Sequencing Panel
 United States.
 United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PRKRA gene.
More info about this panel United States.
 United States.
PRKRA Deletion/duplication analysis Panel
 United States.
 United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PRKRA gene.
More info about this panel United States.
 United States.
Dystonia Exome Panel Panel
 United States.
 United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
 United States.
PRKRA. Complete sequencing Panel
 Spain.
 Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRKRA gene.
More info about this panel Spain.
 Spain.
Torsion dystonia 16 (DYT16, sequence analysis of PRKRA gene) Panel
 Portugal.
 Portugal.
By CGC Genetics
This panel specifically test the PRKRA gene.
More info about this panel Portugal.
 Portugal.
Parkinson disease (NGS panel for 33 genes) Panel
 Portugal.
 Portugal.
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Portugal.
 Portugal.
Dystonia (NGS panel for 43 genes) Panel
 Portugal.
 Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
 Portugal.
Dystonia Sequencing Panel with CNV Detection Panel
 United States.
 United States.
By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
 United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
 United States.
 United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
 United States.
Mental retardation - different panels Panel
 Germany.
 Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
 Germany.
Neurogenetic Disorders - panels Panel
 Germany.
 Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
 Germany.
DYT16 - dystonia 16 Panel
 Germany.
 Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRKRA gene.
More info about this panel Germany.
 Germany.
AllNeuro panel Panel
 Germany.
 Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
 Germany.
Parkinsons disease panel Panel
 Germany.
 Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
 Germany.
Parkinson all Panel Panel
 Germany.
 Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
 Germany.
Parkinson Dystonia Panel Panel
 Germany.
 Germany.
By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA
More info about this panel Germany.
 Germany.
Dystonia Plus Syndrome Panel Panel
 Germany.
 Germany.
By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1
More info about this panel Germany.
 Germany.
Dystonia All Panel Panel
 Germany.
 Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
 Germany.
Single gene testing PRKRA Panel
 Germany.
 Germany.
By CeGaT GmbH
This panel specifically test the PRKRA gene.
More info about this panel Germany.
 Germany.
Dystonia Panel
 Estonia.
 Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
 Estonia.
Parkinson Disease Panel
 Estonia.
 Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
 Estonia.
Invitae Dystonia Comprehensive Panel Panel
 United States.
 United States.
By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
 United States.
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel Panel
 United States.
 United States.
By Invitae Invitae Hereditary Parkinson's Disease and Parkinsonism Panel that also includes the following genes: SLC6A3 SNCA SPR TH VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2
More info about this panel United States.
 United States.
DYSTONIA Panel
 Spain.
 Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
 Spain.
NGS panel - Parkinson Panel
 Netherlands.
 Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
 Netherlands.
Dystonia Dyskinesia NGS Panel Panel
 United States.
 United States.
By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A
More info about this panel United States.
 United States.
Parkinson-Alzheimer-Dementia NGS Panel Panel
 United States.
 United States.
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panel United States.
 United States.
PRKRA Panel
 United States.
 United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRKRA gene.
More info about this panel United States.
 United States.
Parkinson Disease Panel Panel
 Finland.
 Finland.
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panel Finland.
 Finland.
Dystonia Panel Panel
 Finland.
 Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
 Finland.
Dystonia 16 Panel
 Spain.
 Spain.
By Bioarray
This panel specifically test the PRKRA gene.
More info about this panel Spain.
 Spain.
DYSTONIAS (DYT) NGS PANEL Panel
 Spain.
 Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
 Spain.
DYSTONIA-PARKINSONISM, EARLY ONSET (DYT16) Panel
 Spain.
 Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PRKRA gene.
More info about this panel Spain.
 Spain.
Dystonia Type16, Sequencing PRKRA Gene Panel
 Spain.
 Spain.
By Reference Laboratory Genetics
This panel specifically test the PRKRA gene.
More info about this panel Spain.
 Spain.
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
 Spain.
 Spain.
By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
 Spain.
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