Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of a mutant TRPV4 caused a lethal skeletal dysplasia that phenocopied many abnormalities associated with metatropic dysplasia in humans, including dumbbell-shaped long bones, a small ribcage, abnormalities in the autopod, and abnormal ossification in the vertebrae.
|
24644033 |
2014 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
TRPV4 mutations were found in all but one MD subject.
|
20577006 |
2010 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).
|
21964829 |
2011 |
Metatropic dwarfism
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia.
|
19232556 |
2009 |
Metatropic dwarfism
|
0.800 |
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 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
|
20425821 |
2010 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
|
27530454 |
2016 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings recorded metatropic dysplasia with the c.2396C > T mutation in the TRPV4 gene in China.
|
31808622 |
2020 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Metatropic Dysplasia with a Novel Mutation in TRPV4.
|
27567651 |
2016 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia.
|
20503319 |
2010 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of metatropic dysplasia, caused by a dominant mutation (I604M) in the calcium channel gene TRPV4.
|
24559391 |
2014 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Over 50 different TRPV4 mutations have been reported, with two codons appearing to be mutational hot spots: P799 in exon 15, mostly associated with MD, and R594 in exon 11, associated with SMDK.
|
22791502 |
2012 |
Metatropic dwarfism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
|
28414187 |
2017 |
Spondylometaphyseal dysplasia, Kozlowski type
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
We propose that AD brachyolmia lies at the mildest end of this spectrum and, since all cases described with this diagnosis and TRPV4 mutations display metaphyseal changes, we suggest that it is not a distinct entity but represents the mildest phenotypic expression of SMDK.
|
21658220 |
2011 |
Spondylometaphyseal dysplasia, Kozlowski type
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The TRPV4 mutation spectrum in MD and SMDK, which showed genotype-phenotype correlation and potential functional significance of mutations that are non-randomly distributed over the gene, was presented in this study.
|
20577006 |
2010 |
Spondylometaphyseal dysplasia, Kozlowski type
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal changes.
|
28687525 |
2017 |
Spondylometaphyseal dysplasia, Kozlowski type
|
0.760 |
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 |
Spondylometaphyseal dysplasia, Kozlowski type
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, predicting a R594H substitution, was recurrent in four patients.
|
19232556 |
2009 |
Spondylometaphyseal dysplasia, Kozlowski type
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Over 50 different TRPV4 mutations have been reported, with two codons appearing to be mutational hot spots: P799 in exon 15, mostly associated with MD, and R594 in exon 11, associated with SMDK.
|
22791502 |
2012 |
Brachyolmia Type 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
|
18587396 |
2008 |
Brachyolmia Type 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The findings demonstrate that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal-dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone dysplasia family.
|
19232556 |
2009 |
Brachyolmia Type 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia.
|
24644033 |
2014 |
Brachyolmia Type 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals.
|
24677493 |
2014 |
Brachyolmia Type 3
|
0.760 |
Biomarker
|
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 |