Paroxysmal Extreme Pain Disorder

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.

Genes related to Paroxysmal Extreme Pain Disorder

SCN10A
SCN9A
SCN11A

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Paroxysmal Extreme Pain Disorder

Seizures
Pain
Motor delay
Peripheral neuropathy
Constipation
Hyperhidrosis
Apnea
Tachycardia
Bradycardia
Abnormal autonomic nervous system physiology

And another 8 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Paroxysmal Extreme Pain Disorder Is also known as rectal pain, familial, pexpd, pepd, pain, submandibular, ocular, and rectal, with flushing, familial rectal pain.

Researches and researchers

Doctors, researchs, and experts related to Paroxysmal Extreme Pain Disorder extracted from public data.

Paroxysmal Extreme Pain Disorder Experts map

Current Researchs and researchers

AACHEN — Pr Angelika LAMPERT
Investigator of research project
- Institution/s:
  — Universitätsklinikum Aachen
- Research area/topic::
  Biofunctional hydrogel systems fostering stem cell derived peripheral neurons to study chronic pain disease

Paroxysmal Extreme Pain Disorder Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cardiac Arrhythmia Gene Panel. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital (New Zealand). RYR2, SCN10A, SCN1B, SCN5A, TNNI3, TNNT2, TPM1, CACNA1C, CACNB2, CASQ2, RBM20, DSC2, DSG2, DSP, GLA, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2 , (...) View the complete list with 8 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN5A, TNNI3, TNNT2, TPM1, CACNA1C, CACNB2, CASQ2, RBM20, DSC2, DSG2, DSP, GLA, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYBPC3, MYH6, MYH7, MYL2, PKP2, BAG3 Specificity 4 % Genes 34 %
SCN10A. By Institute for Human Genetics University Clinic Freiburg (Germany). SCN10A Specificity 100 % Genes 34 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4 , (...) View the complete list with 27 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4, RANGRF, TRPM4, SCN3B, GPD1L, DPP6, AKAP9, GJA5, ANK2, ABCC9, KCNA5, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, ASPH, NPPA, PKP2, PLN, PRKAG2 Specificity 3 % Genes 34 %
SCN10A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SCN10A Specificity 100 % Genes 34 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene). By CGC Genetics (Portugal). SCN10A Specificity 100 % Genes 34 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene). By CGC Genetics (Portugal). SCN10A Specificity 100 % Genes 34 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...) View the complete list with 133 more genes Panel complete gene list RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, TUBA8, TUBB2A, TUBG1, UBE3A, WWOX, FRRS1L, CNTNAP2, CACNA1A, CACNA1H, CACNB4, NPRL3, CAD, PCDH19, ARHGEF9, ZEB2, CASK, ARFGEF2, PLCB1, SLC19A3, SCARB2, BCKDK, PRICKLE1, CPA6, ACY1, ARX, SPATA5, ATP6AP2, DEPDC5, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, TNK2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, AARS, CLCN2, MBD5, TPP1, CLN3, CLN5, TUBA1A, CLN6, TUBB3, CLN8, NACC1, FARS2, NHLRC1, BRAT1, KCTD7, SLC13A5, PIGO, CRH, NECAP1, CSTB, NPRL2, CTSD, CTSF, CARS2, PIGG, PIGV, DCX, MFSD8, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, DNM1, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, MTOR, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GFAP, GNAO1, GNB1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HCN2, HNRNPU, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MECP2, MEF2C, NEDD4L, ATP1A2, NRXN1, ATP1A3, ALDH7A1, PIGA, PNKP, POLG, PPT1, PLPBP, PURA, QARS, RELN Specificity 2 % Genes 67 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN10A, SCN11A, SCN9A Specificity 100 % Genes 100 %