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 [BR:br08402]
 Musculoskeletal diseases
  Other musculoskeletal diseases
   H01391  Familial episodic pain syndrome
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
Related
pathway
hsa04750  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: 8E43.Y
ICD-10: M79.6
MeSH: C538101
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

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