KEGG   DISEASE: Scapuloperoneal spinal muscular atrophy
Entry
H00524                      Disease                                

Name
Scapuloperoneal spinal muscular atrophy
Description
Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00524  Scapuloperoneal spinal muscular atrophy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Motor neuron diseases or related disorders
   8B61  Spinal muscular atrophy
    H00524  Scapuloperoneal spinal muscular atrophy
Gene
TRPV4 [HSA:59341] [KO:K04973]
Other DBs
ICD-11: 8B61.4
ICD-10: G12.1
OMIM: 181405
Reference
  Authors
Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S
  Title
TRPV4-pathy, a novel channelopathy affecting diverse systems.
  Journal
J Hum Genet 55:400-2 (2010)
DOI:10.1038/jhg.2010.37
Reference
  Authors
Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX
  Title
Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
  Journal
J Biol Chem 286:17281-91 (2011)
DOI:10.1074/jbc.M111.237685
Reference
  Authors
Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landoure G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD
  Title
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
  Journal
Brain 133:1798-809 (2010)
DOI:10.1093/brain/awq109
LinkDB

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