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Type II Collagenopathies

MedGen UID:
431606
Concept ID:
CN043672
Disease or Syndrome
Related genes: TRPV4, PAM16, GPX4, FN1, COL2A1, CFAP410, ACP5

Authors:
Pernille Axél Gregersen  |  Ravi Savarirayan   view full author information

Term Hierarchy

Professional guidelines

PubMed

Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M
Br J Radiol 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025. PMID: 37351952Free PMC Article

Recent clinical studies

Etiology

Zhang T, Sun X, Li M, Huang H
Bone 2021 Dec;153:116169. Epub 2021 Sep 4 doi: 10.1016/j.bone.2021.116169. PMID: 34492360
Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Krakow D
Clin Perinatol 2015 Jun;42(2):301-19, viii. Epub 2015 Apr 8 doi: 10.1016/j.clp.2015.03.003. PMID: 26042906Free PMC Article
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122Free PMC Article
Freisinger P, Bonaventure J, Stoess H, Pontz BF, Emmrich P, Nerlich A
Am J Med Genet 1996 May 3;63(1):137-43. doi: 10.1002/(SICI)1096-8628(19960503)63:1<137::AID-AJMG24>3.0.CO;2-O. PMID: 8723099

Diagnosis

Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M
Br J Radiol 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025. PMID: 37351952Free PMC Article
Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC
Am J Med Genet A 2017 Mar;173(3):733-739. Epub 2016 Nov 26 doi: 10.1002/ajmg.a.38059. PMID: 27888646Free PMC Article
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I
Hum Mutat 2016 Jan;37(1):7-15. Epub 2015 Oct 21 doi: 10.1002/humu.22915. PMID: 26443184
Krakow D
Clin Perinatol 2015 Jun;42(2):301-19, viii. Epub 2015 Apr 8 doi: 10.1016/j.clp.2015.03.003. PMID: 26042906Free PMC Article

Prognosis

Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S
Genes (Basel) 2022 Jan 13;13(1) doi: 10.3390/genes13010137. PMID: 35052477Free PMC Article
Zhang T, Sun X, Li M, Huang H
Bone 2021 Dec;153:116169. Epub 2021 Sep 4 doi: 10.1016/j.bone.2021.116169. PMID: 34492360
Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P
Am J Med Genet A 2015 Dec;167A(12):3204-8. Epub 2015 Sep 8 doi: 10.1002/ajmg.a.37361. PMID: 26345137
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A
Am J Med Genet A 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. PMID: 15643621
Spranger J
J Inherit Metab Dis 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. PMID: 11405334

Clinical prediction guides

Zhang T, Sun X, Li M, Huang H
Bone 2021 Dec;153:116169. Epub 2021 Sep 4 doi: 10.1016/j.bone.2021.116169. PMID: 34492360
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I
Eur J Hum Genet 2016 Jul;24(7):992-1000. Epub 2015 Dec 2 doi: 10.1038/ejhg.2015.250. PMID: 26626311Free PMC Article
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122Free PMC Article
Spranger J
J Inherit Metab Dis 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. PMID: 11405334
Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH
Hum Mol Genet 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. PMID: 7757081

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