KEGG DISEASE: Familial episodic pain syndrome

KEGG

DISEASE: Familial episodic pain syndrome

Entry

H01391                      Disease

Name

Familial episodic pain syndrome

Description

Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue, fasting, and cold. Gain-of-function mutations in TRPA1, SCN10A, and SCN11A can be causative of FEPS.

Category

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Other disorders of the nervous system
   8E43  Pain disorders
    H01391  Familial episodic pain syndrome

Pathway

Inflammatory mediator regulation of TRP channels

Gene

(FEPS1) TRPA1 [HSA:8989] [KO:K04984]
(FEPS2) SCN10A [HSA:6336] [KO:K04842]
(FEPS3) SCN11A [HSA:11280] [KO:K04843]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

615040 615551 615552

Reference

Authors

Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramirez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A

Title

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.

Journal

Neuron 66:671-80 (2010)
DOI:10.1016/j.neuron.2010.04.030

Reference

Authors

Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG

Title

Gain-of-function Nav1.8 mutations in painful neuropathy.

Journal

Proc Natl Acad Sci U S A 109:19444-9 (2012)
DOI:10.1073/pnas.1216080109

Reference

Authors

Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY

Title

Gain-of-function mutations in SCN11A cause familial episodic pain.

Journal

Am J Hum Genet 93:957-66 (2013)
DOI:10.1016/j.ajhg.2013.09.016

LinkDB

» Japanese version

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