Table 3.

TRPV4 mutant and its genetic disorder

The disease abbreviation means below: Serum Sodium Level Quantitative Trait Locus (Hyponatermia) (the # of MIM is not available), Chronic obstructive pulmonary disease (COPD) (the # of MIM is not available), Brachyolmia type 3 (BRAC3) [MIM:113500], Metatropic dysplasia (MTD) [MIM:156530]; Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175]. (DSMAC is also called as Hereditary Motor and Sensory Neuropathy, Type IIC; HMSN2C or Spinal muscular atrophies (SMA), also known as hereditary motor neuropathies. Spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM:184095]. TRPV4 mutant (E797K or P799R) causes both Parastremmatic dwarfism (PSTD) [MIM:168400] and Spondylometaphyseal dysplasias Kozlowski type (SMDK) [MIM:184252]. Charcot-Marie-Tooth disease type 2C (CMT2C) and Scapuloperoneal Spinal Muscular Atrophy (SPSMA) [MIM:606071]. Familial digital arthropathy-brachydactyly (FDAB): (the # of MIM is not available). MIM: Mendelian Inheritance in Man. ^*G806A (exon 5) mutation causes both SMA/HMSN2C and CMT2C. It is also unclear yet that the channel activity of TRPV4 R269H is increased than that of TRPV4 WT.