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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

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

Paroxysmal nonkinesigenic dyskinesia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PNKD gene.

More info about this panel

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

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

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

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

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

Single gene testing PNKD Panel

Germany.

By CeGaT GmbH

This panel specifically test the PNKD gene.

More info about this panel

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

Paroxysmale nicht-kinesiogene Dyskinesie Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PNKD gene.

More info about this panel

Paroxysmale nicht-kinesiogene Dyskinesie Panel

Slovakia.

By MedGene

This panel specifically test the PNKD gene.

More info about this panel

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

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

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

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

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

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

PNKD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PNKD gene.

More info about this panel

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

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

Paroxysmal non-kinesigenic dyskinesia Panel

Spain.

By Bioarray

This panel specifically test the PNKD gene.

More info about this panel

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


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