Episodic Pain Syndrome, Familial, 3; Feps3

Description

Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013).For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Episodic Pain Syndrome, Familial, 3; Feps3

  • Neoplasm
  • Peripheral neuropathy
  • Pain
  • Diarrhea
  • Fatigue
  • Hyperhidrosis
  • Cirrhosis
  • Paresthesia
  • Palpitations
  • Keratoconjunctivitis sicca
And another 3 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Episodic Pain Syndrome, Familial, 3; Feps3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCN11A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN11A
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene).

By CGC Genetics in Portugal.

SCN11A
Specificity
100 %
Genes
100 %
Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene).

By CGC Genetics in Portugal.

SCN11A
Specificity
100 %
Genes
100 %
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene.

By PreventionGenetics PreventionGenetics in United States.

SCN11A
Specificity
100 %
Genes
100 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCN9A, SCN10A, SCN11A
Specificity
34 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLG, SPTLC2, FLVCR1, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, CCT5, DST, RETREG1, NGF, SCN11A, ATL3, CLTCL1, PRDM12
Specificity
5 %
Genes
100 %
SCN11A.

By MGZ Medical Genetics Center in Germany.

SCN11A
Specificity
100 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Episodic pain syndrome type 3, familial.

By Centogene AG - the Rare Disease Company in Germany.

SCN11A
Specificity
100 %
Genes
100 %
Neuropathic Pain Syndromes Panel.

By CeGaT GmbH in Germany.

NTRK1, SCN9A, SCN10A, SCN11A, TRPA1
Specificity
20 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.

By Invitae in United States.

SPTLC2, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, DST, RETREG1, NGF, SCN11A, ATL3
Specificity
7 %
Genes
100 %
SCN11A.

By Fulgent Genetics Fulgent Genetics in United States.

SCN11A
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
PAROXYSMAL EXTREME PAIN DISORDER.

By Laboratorio de Genetica Clinica SL in Spain.

SCN9A, SCN10A, SCN11A
Specificity
34 %
Genes
100 %
Episodic pain syndrome, familial.

By Labor Dr. Wisplinghoff in Germany.

SCN10A, SCN11A
Specificity
50 %
Genes
100 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, PTEN, TP53, RB1, ZFHX3, AR, CDKN2A, KMT2D, MED12, AKAP9, CDKN1B, PIK3CA, TBX20, SCN11A, CDK12, MYC, GLI1, KLF6, NIPA2, NKX3-1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %


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