|
Brachyolmia Type 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the TRPV4 gene result in a bone dysplasia family and form a continuous phenotypic spectrum that includes, in decreasing severity, lethal, and nonlethal metatropic dysplasia (MD), spondylometaphyseal dysplasia Kozlowski type (SMDK), and autosomal dominant brachyolmia.
|
22791502 |
2012 |
|
Scapuloperoneal Form of Spinal Muscular Atrophy
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 (TRPV4).
|
20037587 |
2010 |
|
Scapuloperoneal Form of Spinal Muscular Atrophy
|
0.740 |
Biomarker
|
disease |
BEFREE |
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.
|
26948711 |
2017 |
|
Scapuloperoneal Form of Spinal Muscular Atrophy
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Similarly, heterozygous missense mutations of TRPV4 cause a spectrum of peripheral neuropathy, including hereditary motor and sensory neuropathy type IIC, congenital spinal muscular atrophy, and scapuloperoneal spinal muscular atrophy.
|
22419508 |
2012 |
|
Scapuloperoneal Form of Spinal Muscular Atrophy
|
0.740 |
Biomarker
|
disease |
BEFREE |
The gene for HMSN2C maps to 12q23-24.This region is associated with SCA2, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy.
|
12682323 |
2003 |
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 (TRPV4).
|
20037587 |
2010 |
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.740 |
Biomarker
|
disease |
BEFREE |
In TRPV4-transfected cells, the CMT2C mutations caused marked cellular toxicity and increased constitutive and activated channel currents.
|
20037586 |
2010 |
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular diseases that includes congenital distal spinal muscular atrophy (SMA), scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC.
|
20505684 |
2010 |
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.740 |
Biomarker
|
disease |
BEFREE |
Our data suggest that TRPV4-linked CMT2C accounts for a sizable fraction in this USA cohort of CMT2; it has a wide phenotypic spectrum, and vocal cord paralysis, scapular weakness and wasting, skeletal dysplasia, and hearing loss are suggestive signs for TRPV4-linked CMT2C.
|
31468327 |
2020 |
|
Parastremmatic dwarfism
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Defects in TRPV4 are the cause of several human diseases, including brachyolmia type 3 (MIM:113500) (also known as brachyrachia or spondylometaphyseal dysplasia Kozlowski type [MIM:118452]), and metatropic dysplasia (MIM:156530) (also called metatropic dwarfism or parastremmatic dwarfism [MIM:168400]).
|
23143559 |
2012 |
|
Parastremmatic dwarfism
|
0.730 |
Biomarker
|
disease |
BEFREE |
We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.
|
20503319 |
2010 |
|
Parastremmatic dwarfism
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and parastremmatic dysplasia.
|
20505684 |
2010 |
|
Digital Arthropathy-Brachydactyly, Familial
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
We report a TRPV4 variant in a father and son referred with a diagnosis of Thiemann disease and compare the clinical and radiological features of Thiemann disease with Familial digital arthropathy-brachydactyly (FDAB).
|
31248428 |
2019 |
|
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
|
0.710 |
Biomarker
|
disease |
BEFREE |
We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.
|
20503319 |
2010 |
|
Osteochondrodysplasias
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Finally, a small number of patients have been identified in whom a TRPV4 mutation results in a phenotype combining skeletal dysplasia with peripheral neuropathy.
|
22791502 |
2012 |
|
Osteochondrodysplasias
|
0.470 |
Biomarker
|
group |
BEFREE |
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
|
22419508 |
2012 |
|
Osteochondrodysplasias
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells.
|
28414187 |
2017 |
|
Osteochondrodysplasias
|
0.470 |
AlteredExpression
|
group |
BEFREE |
Thus, while other factors are at play, our results are consistent with the increased TRPV4 basal activity being a critical determinant of the severity of skeletal dysplasia.
|
21573172 |
2011 |
|
Osteochondrodysplasias
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Over 50 TRPV4 mutations are now known to cause heritable skeletal dysplasia (SD) and other diseases in human.
|
26170305 |
2015 |
|
Osteochondrodysplasias
|
0.470 |
Biomarker
|
group |
BEFREE |
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
|
23143559 |
2012 |
|
Osteochondrodysplasias
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Taken together, these data strongly support that up-regulation of FST in chondrocytes by skeletal dysplasia-inducing TRPV4 mutations contributes to disease pathogenesis.
|
24577120 |
2014 |
|
Spinal Muscular Atrophy
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, different TRPV4 mutations have been associated with dominantly inherited neurologic disorders such as congenital spinal muscular atrophy and hereditary motor and sensory neuropathy.
|
22791502 |
2012 |
|
Spinal Muscular Atrophy
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.
|
27751652 |
2016 |
|
Spinal Muscular Atrophy
|
0.450 |
Biomarker
|
disease |
BEFREE |
Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.
|
24963089 |
2014 |
|
Spinal Muscular Atrophy
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many families remains unknown.
|
22628388 |
2012 |