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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

Prenatal diagnosis of bone dysplasias.
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

Radiologic Features of Type II and Type XI Collagenopathies.
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
Skeletal dysplasias.
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
Ophthalmic and molecular genetic findings in Kniest dysplasia.
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
The cervical spine in the skeletal dysplasias and associated disorders.
Lachman RS
Pediatr Radiol 1997 May;27(5):402-8. doi: 10.1007/s002470050156. PMID: 9133351
Type II collagenopathies: are there additional family members?
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

Prenatal diagnosis of bone dysplasias.
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
Radiologic Features of Type II and Type XI Collagenopathies.
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
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
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
Skeletal dysplasias.
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
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B
Eur J Pediatr 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. PMID: 8157027

Prognosis

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
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
De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
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
Association between Kniest dysplasia and chondrosarcoma in a child.
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
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
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
Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.
Spranger J
J Inherit Metab Dis 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. PMID: 11405334

Clinical prediction guides

De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
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
Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic).
Drtikolová Kaupová S, Velemínský P, Cvrček J, Džupa V, Kuželka V, Laboš M, Němečková A, Tomková K, Zazvonilová E, Kacki S
Int J Paleopathol 2020 Sep;30:35-46. Epub 2020 May 14 doi: 10.1016/j.ijpp.2020.04.004. PMID: 32417673
Ophthalmic and molecular genetic findings in Kniest dysplasia.
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
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962
Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.
Spranger J
J Inherit Metab Dis 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. PMID: 11405334

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