| H00524 | |
| H number | H00524 |
| 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 |
| Network | - |
| Gene | TRPV4 [HSA:59341] [KO:K04973] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8B61.4 ICD-10: G12.1 OMIM: 181405 |
| Reference | PMID:20505684 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 PMID:21454511 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 PMID:20460441 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 |