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Lysosomal storage disease with skeletal involvement

MedGen UID:
994785
Concept ID:
CN315664
Disease or Syndrome
Synonyms: Dysostosis multiplex; dysostosis multiplex; lysosomal storage disease with skeletal involvement
 
Monarch Initiative: MONDO:0800088
Orphanet: ORPHA93448

Professional guidelines

PubMed

Rosenbaum H
Thromb Res 2015 Feb;135 Suppl 1:S49-51. Epub 2015 Feb 9 doi: 10.1016/S0049-3848(15)50443-X. PMID: 25903536
Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R
Am J Med Genet A 2015 Jan;167A(1):11-25. Epub 2014 Oct 24 doi: 10.1002/ajmg.a.36833. PMID: 25346323Free PMC Article
Giuffrida G, Cappellini MD, Carubbi F, Di Rocco M, Iolascon G
Adv Ther 2014 Dec;31(12):1197-212. Epub 2014 Dec 17 doi: 10.1007/s12325-014-0174-0. PMID: 25515322

Recent clinical studies

Etiology

Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, Sharma N
Indian J Ophthalmol 2022 Jul;70(7):2249-2261. doi: 10.4103/ijo.IJO_425_22. PMID: 35791104Free PMC Article
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Ozen H
World J Gastroenterol 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. PMID: 17552001Free PMC Article

Diagnosis

Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, Sharma N
Indian J Ophthalmol 2022 Jul;70(7):2249-2261. doi: 10.4103/ijo.IJO_425_22. PMID: 35791104Free PMC Article
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Tran MC, Lam JM
Pediatr Dermatol 2016 Nov;33(6):594-601. Epub 2016 Sep 7 doi: 10.1111/pde.12971. PMID: 27601403
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Therapy

Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
BioDrugs 2002;16(4):316-8. doi: 10.2165/00063030-200216040-00009. PMID: 12196045
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

Prognosis

Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Tran MC, Lam JM
Pediatr Dermatol 2016 Nov;33(6):594-601. Epub 2016 Sep 7 doi: 10.1111/pde.12971. PMID: 27601403
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Clinical prediction guides

Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Spina V, Barbuti D, Gaeta A, Palmucci S, Soscia E, Grimaldi M, Leone A, Manara R, Polonara G
Ital J Pediatr 2018 Nov 16;44(Suppl 2):118. doi: 10.1186/s13052-018-0556-z. PMID: 30442151Free PMC Article
Goebel HH, Müller HD
Ultrastruct Pathol 2013 Feb;37(1):19-22. doi: 10.3109/01913123.2012.670060. PMID: 23383614
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

Recent systematic reviews

Ditters IAM, van Kooten HA, van der Beek NAME, van der Ploeg AT, Huidekoper HH, van den Hout JMP
Biomolecules 2023 Sep 19;13(9) doi: 10.3390/biom13091414. PMID: 37759814Free PMC Article
Minervini G, Franco R, Marrapodi MM, Mehta V, Fiorillo L, Badnjević A, Cervino G, Cicciù M
Medicina (Kaunas) 2023 Mar 28;59(4) doi: 10.3390/medicina59040670. PMID: 37109627Free PMC Article
Somaraju UR, Tadepalli K
Cochrane Database Syst Rev 2017 Oct 18;10(10):CD006974. doi: 10.1002/14651858.CD006974.pub4. PMID: 29044482Free PMC Article
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS
Mol Genet Metab 2017 Mar;120(3):163-172. Epub 2016 Dec 11 doi: 10.1016/j.ymgme.2016.12.004. PMID: 28185884
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML
Calcif Tissue Int 2014 Dec;95(6):477-94. Epub 2014 Nov 7 doi: 10.1007/s00223-014-9923-y. PMID: 25377906

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