MCID: ATS491
MIFTS: 10

Autosomal Dominant Trpv4 Disorders

Aliases & Classifications for Autosomal Dominant Trpv4 Disorders

MalaCards integrated aliases for Autosomal Dominant Trpv4 Disorders:

Name: Autosomal Dominant Trpv4 Disorders 25

Characteristics:

GeneReviews:

25
Penetrance Autosomal dominant...

Summaries for Autosomal Dominant Trpv4 Disorders

MalaCards based summary : Autosomal Dominant Trpv4 Disorders is related to spondyloepiphyseal dysplasia with congenital joint dislocations and metatropic dysplasia. An important gene associated with Autosomal Dominant Trpv4 Disorders is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include endothelial.

GeneReviews: NBK201366

Related Diseases for Autosomal Dominant Trpv4 Disorders

Graphical network of the top 20 diseases related to Autosomal Dominant Trpv4 Disorders:



Diseases related to Autosomal Dominant Trpv4 Disorders

Symptoms & Phenotypes for Autosomal Dominant Trpv4 Disorders

Drugs & Therapeutics for Autosomal Dominant Trpv4 Disorders

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Trpv4 Disorders

Genetic Tests for Autosomal Dominant Trpv4 Disorders

Anatomical Context for Autosomal Dominant Trpv4 Disorders

MalaCards organs/tissues related to Autosomal Dominant Trpv4 Disorders:

40
Endothelial

Publications for Autosomal Dominant Trpv4 Disorders

Articles related to Autosomal Dominant Trpv4 Disorders:

(show top 50) (show all 60)
# Title Authors PMID Year
1
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2. 25
32471994 2020
2
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. 25
32065591 2020
3
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 25
31191204 2019
4
TRPV4 is involved in levonorgestrel-induced reduction in oviduct ciliary beating. 25
30632164 2019
5
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. 25
31041394 2019
6
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. 25
28898540 2017
7
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
8
Timing, rates and spectra of human germline mutation. 25
26656846 2016
9
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. 25
27066566 2015
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
11
Therapeutic options in Charcot-Marie-Tooth diseases. 25
25703094 2015
12
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations. 25
24577120 2014
13
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 25
24789864 2014
14
The TRPV4 channel. 25
24756711 2014
15
Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias. 25
26942100 2014
16
Transient receptor potential channels and regulation of lung endothelial permeability. 25
25006396 2013
17
TRP channel Ca(2+) sparklets: fundamental signals underlying endothelium-dependent hyperpolarization. 25
24025865 2013
18
The puzzle of TRPV4 channelopathies. 25
23306656 2013
19
Novel insights into TRPV4 function in the kidney. 25
23207579 2013
20
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 25
22851605 2012
21
TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. 25
23021218 2012
22
Calcium/calmodulin-signaling supports TRPV4 activation in osteoclasts and regulates bone mass. 25
22492541 2012
23
TRPV4-associated skeletal dysplasias. 25
22791502 2012
24
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. 25
22675077 2012
25
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. 25
22459654 2012
26
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. 25
22689196 2012
27
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 25
22419508 2012
28
Importance of transient receptor potential vanilloid 4 (TRPV4) in epidermal barrier function in human skin keratinocytes. 25
22374181 2012
29
Muscle MRI in TRPV4-related congenital distal SMA. 25
22291064 2012
30
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). 25
21863289 2012
31
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? 25
21964829 2011
32
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. 25
21336783 2011
33
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. 25
21573172 2011
34
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 25
21288981 2011
35
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 25
21115951 2010
36
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 25
20577006 2010
37
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 25
20503319 2010
38
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. 25
20460441 2010
39
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 25
20037587 2010
40
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 25
20037588 2010
41
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 25
20037586 2010
42
Anesthetic management of an obstetric patient with Charcot-Marie-Tooth disease: a case study. 25
19911641 2009
43
What we do not know about pregnancy in hereditary neuromuscular disorders. 25
19692244 2009
44
TRPC1 and TRPC6 channels cooperate with TRPV4 to mediate mechanical hyperalgesia and nociceptor sensitization. 25
19439599 2009
45
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 25
19232556 2009
46
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 25
18587396 2008
47
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. 25
17879966 2007
48
Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. 25
17948126 2007
49
Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. 25
17804410 2007
50
Charcot-Marie-Tooth disease: peripartum management of two contrasting clinical cases. 25
17275278 2007

Variations for Autosomal Dominant Trpv4 Disorders

Expression for Autosomal Dominant Trpv4 Disorders

Search GEO for disease gene expression data for Autosomal Dominant Trpv4 Disorders.

Pathways for Autosomal Dominant Trpv4 Disorders

GO Terms for Autosomal Dominant Trpv4 Disorders

Sources for Autosomal Dominant Trpv4 Disorders

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
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50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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