Episodic Pain Syndrome, Familial, 1; Feps1

Description

Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). Genetic Heterogeneity of Familial Episodic Pain SyndromeSee also FEPS2 (OMIM ), caused by mutation in the SCN10A gene (OMIM ) on chromosome 3p22, and FEPS3 (OMIM ), caused by mutation in the SCN11A gene (OMIM ) on chromosome 3p22.

Clinical Features

Phenotypes and symptoms related to Episodic Pain Syndrome, Familial, 1; Feps1

  • Pain
  • Fatigue
  • Respiratory distress
  • Hyperhidrosis
  • Pallor
  • Tachycardia
  • Cyanosis
  • Hyperalgesia

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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Episodic Pain Syndrome, Familial, 1; Feps1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene).

By CGC Genetics (Portugal).

TRPA1
Specificity
100 %
Genes
100 %
Familial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene).

By CGC Genetics (Portugal).

TRPA1
Specificity
100 %
Genes
100 %
Neuropathic Pain Syndromes Panel.

By CeGaT GmbH (Germany).

SCN10A, SCN11A, SCN9A, TRPA1, NTRK1
Specificity
20 %
Genes
100 %
TRPA1.

By Fulgent Genetics Fulgent Genetics (United States).

TRPA1
Specificity
100 %
Genes
100 %
EPISODIC PAIN SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

TRPA1
Specificity
100 %
Genes
100 %
Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A.

By Reference Laboratory Genetics (Spain).

SCN10A, SCN9A, TRPA1
Specificity
34 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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