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Multiple Epiphyseal Dysplasia, Dominant

MedGen UID:
433160
Concept ID:
CN043640
Disease or Syndrome
Gene (location): MATN3 (2p24.1)
Related genes: COMP, COL9A3, COL9A2, COL9A1

Disease characteristics

Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints. [from GeneReviews]
Authors:
Michael D Briggs  |  Michael J Wright  |  Geert R Mortier   view full author information

Professional guidelines

PubMed

Briggs MD, Brock J, Ramsden SC, Bell PA
Eur J Hum Genet 2014 Nov;22(11):1278-82. Epub 2014 Mar 5 doi: 10.1038/ejhg.2014.30. PMID: 24595329Free PMC Article

Recent clinical studies

Etiology

Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851Free PMC Article
Jurik AG
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101505. Epub 2020 Apr 4 doi: 10.1016/j.berh.2020.101505. PMID: 32253147
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Bishop N
Endocr Dev 2009;16:157-69. Epub 2009 Jun 3 doi: 10.1159/000223694. PMID: 19494666
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Diagnosis

Palomo T, Vilaça T, Lazaretti-Castro M
Curr Opin Endocrinol Diabetes Obes 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. PMID: 28863000
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O
Nat Rev Dis Primers 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. PMID: 28820180
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Anthony S, Munk R, Skakun W, Masini M
J Am Acad Orthop Surg 2015 Mar;23(3):164-72. Epub 2015 Feb 9 doi: 10.5435/JAAOS-D-13-00173. PMID: 25667404
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Therapy

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
Van Hul W, Boudin E, Vanhoenacker FM, Mortier G
Calcif Tissue Int 2019 May;104(5):554-560. Epub 2019 Feb 5 doi: 10.1007/s00223-019-00532-1. PMID: 30721323
Palomo T, Vilaça T, Lazaretti-Castro M
Curr Opin Endocrinol Diabetes Obes 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. PMID: 28863000
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Bishop N
Endocr Dev 2009;16:157-69. Epub 2009 Jun 3 doi: 10.1159/000223694. PMID: 19494666

Prognosis

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
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Unger S, Bonafé L, Superti-Furga A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. PMID: 18328978
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Clinical prediction guides

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
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768Free PMC Article
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Yu FF, Sun L, Zhou GY, Ping ZG, Guo X, Ba Y
Biol Trace Elem Res 2022 Feb;200(2):543-550. Epub 2021 Apr 12 doi: 10.1007/s12011-021-02705-2. PMID: 33844169
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V
Bone 2021 Mar;144:115803. Epub 2021 Jan 12 doi: 10.1016/j.bone.2020.115803. PMID: 33333243
Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M
Am J Med Genet A 2021 Jan;185(1):73-82. Epub 2020 Oct 14 doi: 10.1002/ajmg.a.61912. PMID: 33051983
Carvalho PHA, Moura LB, Real Gabrielli MF, Cabrini Gabrielli MA, Antonio Pereira Filho V
J Craniomaxillofac Surg 2018 Nov;46(11):1905-1910. Epub 2018 Sep 24 doi: 10.1016/j.jcms.2018.09.004. PMID: 30309794

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