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COL1A1 Associated Connective Tissue Disorder

MedGen UID:
396965
Concept ID:
C2698737
Disease or Syndrome

Definition

A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCOL1A1 Associated Connective Tissue Disorder

Professional guidelines

PubMed

Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M
Hum Genet 2023 Jun;142(6):785-808. Epub 2023 Apr 20 doi: 10.1007/s00439-023-02547-z. PMID: 37079061
Yang F, Yang RJ, Li Q, Zhang J, Meng YX, Liu XJ, Yao YF
Mol Genet Genomic Med 2022 Mar;10(3):e1885. Epub 2022 Feb 4 doi: 10.1002/mgg3.1885. PMID: 35119775Free PMC Article
Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A
Eur J Hum Genet 2015 Aug;23(8):1042-50. Epub 2015 May 6 doi: 10.1038/ejhg.2015.81. PMID: 25944380Free PMC Article

Recent clinical studies

Etiology

Harsanyi S, Zamborsky R, Krajciova L, Kokavec M, Danisovic L
Medicina (Kaunas) 2020 Mar 31;56(4) doi: 10.3390/medicina56040153. PMID: 32244273Free PMC Article
Tournis S, Dede AD
Metabolism 2018 Mar;80:27-37. Epub 2017 Jun 8 doi: 10.1016/j.metabol.2017.06.001. PMID: 28625337
Wallace MJ, Kruse RW, Shah SA
J Am Acad Orthop Surg 2017 Feb;25(2):100-109. doi: 10.5435/JAAOS-D-15-00169. PMID: 28009707
Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B
J Pediatr (Rio J) 2014 Nov-Dec;90(6):536-41. Epub 2014 Jul 18 doi: 10.1016/j.jped.2014.05.003. PMID: 25046257
Anum EA, Hill LD, Pandya A, Strauss JF 3rd
Placenta 2009 Mar;30(3):207-15. Epub 2009 Jan 18 doi: 10.1016/j.placenta.2008.12.007. PMID: 19152976Free PMC Article

Diagnosis

Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471
Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892Free PMC Article
Marom R, Rabenhorst BM, Morello R
Eur J Endocrinol 2020 Oct;183(4):R95-R106. doi: 10.1530/EJE-20-0299. PMID: 32621590Free PMC Article
Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, Ren X, Wang Y, Wu Y, Cao Y, Lu C, Gao J, You Y, Zhao F, Geng X, Xiao Y, Jiang C, Ye Y, Yang T, Zhao X, Zhang X
Hum Mutat 2019 May;40(5):588-600. Epub 2019 Feb 25 doi: 10.1002/humu.23718. PMID: 30715774
Wallace MJ, Kruse RW, Shah SA
J Am Acad Orthop Surg 2017 Feb;25(2):100-109. doi: 10.5435/JAAOS-D-15-00169. PMID: 28009707

Therapy

Blank M, McGregor NE, Rowley L, Kung LHW, Crimeen-Irwin B, Poulton IJ, Walker EC, Gooi JH, Lamandé SR, Sims NA, Bateman JF
J Cell Mol Med 2022 Jul;26(14):4021-4031. Epub 2022 Jun 14 doi: 10.1111/jcmm.17437. PMID: 35701367Free PMC Article
Corrêa T, Feltes BC, Gonzalez EA, Baldo G, Matte U
Interdiscip Sci 2021 Mar;13(1):34-43. Epub 2021 Jan 21 doi: 10.1007/s12539-020-00406-3. PMID: 33475959
Wu KY, Kim S, Liu VM, Sabino A, Minkhorst K, Yazdani A, Turley EA
J Invest Dermatol 2021 Jun;141(6):1482-1492.e4. Epub 2020 Nov 23 doi: 10.1016/j.jid.2019.11.032. PMID: 33242499
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article
Ge M, Liu H, Zhang Y, Li N, Zhao S, Zhao W, Zhen Y, Yu J, He H, Shao RG
Br J Pharmacol 2017 May;174(10):1147-1160. Epub 2017 Apr 6 doi: 10.1111/bph.13766. PMID: 28257144Free PMC Article

Prognosis

Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M
Hum Genet 2023 Jun;142(6):785-808. Epub 2023 Apr 20 doi: 10.1007/s00439-023-02547-z. PMID: 37079061
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC
J Dent Res 2023 Jun;102(6):616-625. Epub 2023 Mar 23 doi: 10.1177/00220345231154569. PMID: 36951356
Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F
Clin Exp Rheumatol 2022 May;40 Suppl 134(5):46-62. Epub 2022 May 18 doi: 10.55563/clinexprheumatol/kzkq6y. PMID: 35587586
Dachy G, Fraitag S, Boulouadnine B, Cordi S, Demoulin JB
J Cell Mol Med 2021 May;25(9):4387-4394. Epub 2021 Apr 8 doi: 10.1111/jcmm.16502. PMID: 33830670Free PMC Article
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article

Clinical prediction guides

Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M
Hum Genet 2023 Jun;142(6):785-808. Epub 2023 Apr 20 doi: 10.1007/s00439-023-02547-z. PMID: 37079061
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC
J Dent Res 2023 Jun;102(6):616-625. Epub 2023 Mar 23 doi: 10.1177/00220345231154569. PMID: 36951356
Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M
Clin Genet 2020 Mar;97(3):396-406. Epub 2019 Dec 12 doi: 10.1111/cge.13683. PMID: 31794058
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article

Recent systematic reviews

Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892Free PMC Article

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