KEGG   DISEASE: Familial episodic pain syndrome
H01391                      Disease                                

Familial episodic pain syndrome
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.
Musculoskeletal disease
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
hsa04750  Inflammatory mediator regulation of TRP channels
(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
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
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Neuron 66:671-80 (2010)
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
Gain-of-function Nav1.8 mutations in painful neuropathy.
Proc Natl Acad Sci U S A 109:19444-9 (2012)
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
Gain-of-function mutations in SCN11A cause familial episodic pain.
Am J Hum Genet 93:957-66 (2013)

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