PNKD gene related symptoms and diseases
All the information presented here about the PNKD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PNKD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Chorea | Very Common - Between 80% and 100% cases |
| Paroxysmal choreoathetosis | Very Common - Between 80% and 100% cases |
| Kernicterus | Very Common - Between 80% and 100% cases |
| Paroxysmal dystonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PNKD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Paroxysmal dyskinesia
- Facial grimacing
- Myokymia
- Episodic ataxia
- Trismus
- Encephalitis
- Hyperkinesis
- Torticollis
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PNKD gene
Here you will find a list of rare diseases related to the PNKD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PAROXYSMAL NON-KINESIGENIC DYSKINESIA
Alternate names
PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis, choreoathetosis, nonkinesigenic, pdc, dystonia 8, paroxystic non-kinesigenic choreoathetosis, dyt8, choreoathetosis, familial paroxysmal, mount-reback syndrome, fpd1
Description
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.
Most common symptoms of PAROXYSMAL NON-KINESIGENIC DYSKINESIA
- Seizures
- Ataxia
- Spasticity
- Dysarthria
- Fatigue
More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA
Search interest in PNKD
Potential gene panels for PNKD gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
MR-1 (PNKD) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the PNKD gene.
More info about this panel United States.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Dystonia Exome Panel Panel
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.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
PNKD. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PNKD gene.
More info about this panel Spain.
PNKD. Detection of the mutations p.Ala7Val, p.Ala9Val and p.Ala33Pro by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PNKD gene.
More info about this panel Spain.
Paroxysmal nonkinesigenic dyskinesia 1 (sequence analysis of PNKD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PNKD gene.
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
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.
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via PNKD Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PNKD gene.
More info about this panel United States.
Dystonia Sequencing Panel with CNV Detection Panel
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.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Neurogenetic Disorders - panels Panel
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.
Paroxysmal nonkinesigenic dyskinesia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PNKD gene.
More info about this panel Germany.
AllNeuro panel Panel
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.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Paroxysmal Dyskinesia Panel Panel
Germany.
By CeGaT GmbH Paroxysmal Dyskinesia Panel that also includes the following genes: SCN8A SLC2A1 ADCY5 PRRT2 KCNMA1 PNKD
More info about this panel Germany.
Paroxysmal Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Paroxysmal Movement Disorders Panel that also includes the following genes: SLC2A1 PRRT2 KCNMA1 PNKD
More info about this panel Germany.
Dystonia All Panel Panel
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.
Single gene testing PNKD Panel
Germany.
By CeGaT GmbH
This panel specifically test the PNKD gene.
More info about this panel Germany.
Dystonia Panel
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.
Paroxysmale nicht-kinesiogene Dyskinesie Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PNKD gene.
More info about this panel Austria.
Paroxysmale nicht-kinesiogene Dyskinesie Panel
Slovakia.
By MedGene
This panel specifically test the PNKD gene.
More info about this panel Slovakia.
Invitae Dystonia Comprehensive Panel Panel
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.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Paroxysmal non-kinesigenic dyskinesia: PNKD gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PNKD gene.
More info about this panel Spain.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Dystonia Dyskinesia NGS Panel Panel
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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
PNKD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PNKD gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Dystonia Panel Panel
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.
Paroxysmal non-kinesigenic dyskinesia Panel
Spain.
By Bioarray
This panel specifically test the PNKD gene.
More info about this panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
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.
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