Paroxysmal Extreme Pain Disorder

Description

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

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.

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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.

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:
      — Universit√§tsklinikum Aachen
    • Research area/topic::

      Biofunctional hydrogel systems fostering stem cell derived peripheral neurons to study chronic pain disease



Mendelian

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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
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
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
Specificity
2 %
Genes
67 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN10A, SCN11A, SCN9A
Specificity
100 %
Genes
100 %

We have 147 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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