MCID: TRP021
MIFTS: 13

Trpv4-Associated Disorders

Aliases & Classifications for Trpv4-Associated Disorders

MalaCards integrated aliases for Trpv4-Associated Disorders:

Name: Trpv4-Associated Disorders 24 6

Characteristics:

GeneReviews:

24
Penetrance Trpv4-associated neuromuscular disorders. penetrance is incomplete with the neuromuscular disease-associated pathogenic variants. non-penetrance has been described for the p.arg232cys and p.arg315trp variants....

Summaries for Trpv4-Associated Disorders

MalaCards based summary : Trpv4-Associated Disorders is related to brachyolmia type 3 and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Trpv4-Associated Disorders is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include skin, bone and kidney.

GeneReviews: NBK201366

Related Diseases for Trpv4-Associated Disorders

Graphical network of the top 20 diseases related to Trpv4-Associated Disorders:



Diseases related to Trpv4-Associated Disorders

Symptoms & Phenotypes for Trpv4-Associated Disorders

Drugs & Therapeutics for Trpv4-Associated Disorders

Search Clinical Trials , NIH Clinical Center for Trpv4-Associated Disorders

Genetic Tests for Trpv4-Associated Disorders

Anatomical Context for Trpv4-Associated Disorders

MalaCards organs/tissues related to Trpv4-Associated Disorders:

41
Skin, Bone, Kidney

Publications for Trpv4-Associated Disorders

Articles related to Trpv4-Associated Disorders:

(show top 50) (show all 61)
# Title Authors PMID Year
1
TRP channel Ca(2+) sparklets: fundamental signals underlying endothelium-dependent hyperpolarization. 4
24025865 2013
2
Novel insights into TRPV4 function in the kidney. 4
23207579 2013
3
The puzzle of TRPV4 channelopathies. 4
23306656 2013
4
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 4
22851605 2012
5
Defective presynaptic choline transport underlies hereditary motor neuropathy. 4
23141292 2012
6
TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. 4
23021218 2012
7
TRPV4-associated skeletal dysplasias. 4
22791502 2012
8
Calcium/calmodulin-signaling supports TRPV4 activation in osteoclasts and regulates bone mass. 4
22492541 2012
9
TRPV4 mutations in children with congenital distal spinal muscular atrophy. 4
22526352 2012
10
TRPV4 axonal neuropathy spectrum disorder. 4
22617546 2012
11
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. 4
22689196 2012
12
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. 4
22628388 2012
13
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. 4
22459654 2012
14
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 4
22419508 2012
15
Importance of transient receptor potential vanilloid 4 (TRPV4) in epidermal barrier function in human skin keratinocytes. 4
22374181 2012
16
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). 4
21863289 2012
17
The distal hereditary motor neuropathies. 4
22028385 2012
18
Muscle MRI in TRPV4-related congenital distal SMA. 4
22291064 2012
19
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? 4
21964829 2011
20
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. 4
21336783 2011
21
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 4
21115951 2010
22
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 4
20577006 2010
23
The vanilloid transient receptor potential channel TRPV4: from structure to disease. 4
19835908 2010
24
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. 4
20460441 2010
25
Channelopathies converge on TRPV4. 4
20104247 2010
26
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 4
20037586 2010
27
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 4
20037587 2010
28
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 4
20037588 2010
29
What we do not know about pregnancy in hereditary neuromuscular disorders. 4
19692244 2009
30
TRPC1 and TRPC6 channels cooperate with TRPV4 to mediate mechanical hyperalgesia and nociceptor sensitization. 4
19439599 2009
31
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 4
19232556 2009
32
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 4
18587396 2008
33
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. 4
17879966 2007
34
Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. 4
17948126 2007
35
Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. 4
17804410 2007
36
Charcot-Marie-Tooth disease: peripartum management of two contrasting clinical cases. 4
17275278 2007
37
TRPV4. 4
17217058 2007
38
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. 4
17205227 2006
39
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. 4
16014653 2005
40
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 4
15732094 2005
41
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. 4
15668982 2005
42
Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. 4
15699375 2005
43
Current Therapy for Charcot-Marie-Tooth Disease. 4
15610704 2005
44
Sensory manifestations in Charcot-Marie-Tooth disease. 4
14871449 2004
45
Metatropic dysplasia lethal variants. 4
14566438 2004
46
Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels. 4
12879072 2003
47
Impaired pressure sensation in mice lacking TRPV4. 4
12692122 2003
48
The TRPV4 channel: structure-function relationship and promiscuous gating behaviour. 4
12715179 2003
49
Mutant dynactin in motor neuron disease. 4
12627231 2003
50
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 4
12062259 2002

Variations for Trpv4-Associated Disorders

ClinVar genetic disease variations for Trpv4-Associated Disorders:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4): c.673del (p.Glu225fs) deletion Uncertain significance rs1191019525 12:110240835-110240835 12:109803030-109803030

Expression for Trpv4-Associated Disorders

Search GEO for disease gene expression data for Trpv4-Associated Disorders.

Pathways for Trpv4-Associated Disorders

GO Terms for Trpv4-Associated Disorders

Sources for Trpv4-Associated Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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