U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TRPV4-related bone disorder

MedGen UID:
1842686
•Concept ID:
C5680977
•
Disease or Syndrome
Synonym: TRPV4-related skeletal dysplasia
 
Monarch Initiative: MONDO:0018240
Orphanet: ORPHA364820

Recent clinical studies

Etiology

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K
Eur J Paediatr Neurol 2021 May;32:46-55. Epub 2021 Mar 16 doi: 10.1016/j.ejpn.2021.03.011. PMID: 33774370

Diagnosis

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K
Eur J Paediatr Neurol 2021 May;32:46-55. Epub 2021 Mar 16 doi: 10.1016/j.ejpn.2021.03.011. PMID: 33774370
Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.
Jack CF, Birkemeier KL, Santiago JM, Macmurdo CF, Crisp MB
Pediatr Radiol 2021 Aug;51(9):1758-1761. Epub 2021 Mar 12 doi: 10.1007/s00247-021-05027-6. PMID: 33710406
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R
Orphanet J Rare Dis 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37. PMID: 21658220Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...