| H00506 | |
| H number | H00506 |
| Name | Osteogenesis imperfecta |
| Description | Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified. |
| Category | Congenital malformation |
| Network | - |
| Gene | (OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236] (OI2/3/4) COL1A2 [HSA:1278] [KO:K06236] (OI5) IFITM5 [HSA:387733] [KO:K06566] (OI6) SERPINF1 [HSA:5176] [KO:K19614] (OI7) CRTAP [HSA:10491] [KO:K19606] (OI8) P3H1 [HSA:64175] [KO:K08134] (OI9) PPIB [HSA:5479] [KO:K03768] (OI10) SERPINH1 [HSA:871] [KO:K09501] (OI11) FKBP10 [HSA:60681] [KO:K09575] (OI12) SP7 [HSA:121340] [KO:K09197] (OI13) BMP1 [HSA:649] [KO:K05502] (OI14) TMEM38B [HSA:55151] [KO:K24013] (OI15) WNT1 [HSA:7471] [KO:K03209] (OI16) CREB3L1 [HSA:90993] [KO:K09048] (OI17) SPARC [HSA:6678] [KO:K24262] (OI18) TENT5A [HSA:55603] [KO:K23033] (OI19) MBTPS2 [HSA:51360] [KO:K07765] (OI20) MESD [HSA:23184] [KO:K25366] (OI21) KDELR2 [HSA:11014] [KO:K10949] (OI22) CCDC134 [HSA:79879] [KO:K25417] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.K0 ICD-10: Q78.0 MeSH: D010013 OMIM: 166200 166210 259420 166220 610967 613982 610682 610915 259440 613848 610968 613849 614856 615066 615220 616229 616507 617952 301014 618644 619131 619795 |
| Reference | PMID:20855225 AUTHORS Michou L, Brown JP TITLE Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. JOURNAL Joint Bone Spine 78:252-8 (2011) DOI:10.1016/j.jbspin.2010.07.010 PMID:19878741 AUTHORS Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM TITLE Classification of Osteogenesis Imperfecta revisited. JOURNAL Eur J Med Genet 53:1-5 (2010) DOI:10.1016/j.ejmg.2009.10.007 PMID:22863190 (OI5) AUTHORS Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW TITLE A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. JOURNAL Am J Hum Genet 91:343-8 (2012) DOI:10.1016/j.ajhg.2012.06.005 PMID:21353196 (OI6) AUTHORS Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C TITLE Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. JOURNAL Am J Hum Genet 88:362-71 (2011) DOI:10.1016/j.ajhg.2011.01.015 PMID:17055431 (OI7) AUTHORS Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B TITLE CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. JOURNAL Cell 127:291-304 (2006) DOI:10.1016/j.cell.2006.08.039 PMID:17277775 (OI8) AUTHORS Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC TITLE Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. JOURNAL Nat Genet 39:359-65 (2007) DOI:10.1038/ng1968 PMID:19781681 (OI9) AUTHORS van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Hogler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G TITLE PPIB mutations cause severe osteogenesis imperfecta. JOURNAL Am J Hum Genet 85:521-7 (2009) DOI:10.1016/j.ajhg.2009.09.001 PMID:20188343 (OI10) AUTHORS Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH TITLE Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. JOURNAL Am J Hum Genet 86:389-98 (2010) DOI:10.1016/j.ajhg.2010.01.034 PMID:22718341 (OI11) AUTHORS Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC TITLE Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. JOURNAL Hum Mutat 33:1589-98 (2012) DOI:10.1002/humu.22139 PMID:20579626 (OI12) AUTHORS Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL TITLE Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. JOURNAL Am J Hum Genet 87:110-4 (2010) DOI:10.1016/j.ajhg.2010.05.016 PMID:22482805 (OI13) AUTHORS Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmuller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nurnberg P, Wollnik B, Carney TJ TITLE Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. JOURNAL Am J Hum Genet 90:661-74 (2012) DOI:10.1016/j.ajhg.2012.02.026 PMID:23316006 (OI14) AUTHORS Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS TITLE A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. JOURNAL Hum Mutat 34:582-6 (2013) DOI:10.1002/humu.22274 PMID:23434763 (OI15) AUTHORS Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F TITLE Mutations in WNT1 are a cause of osteogenesis imperfecta. JOURNAL J Med Genet 50:345-8 (2013) DOI:10.1136/jmedgenet-2013-101567 PMID:28817112 (OI16) AUTHORS Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH TITLE Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. JOURNAL Genet Med 20:411-419 (2018) DOI:10.1038/gim.2017.115 PMID:26027498 (OI17) AUTHORS Mendoza-Londono R, Fahiminiya S, Majewski J, Tetreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bachinger HP, Rauch F TITLE Recessive osteogenesis imperfecta caused by missense mutations in SPARC. JOURNAL Am J Hum Genet 96:979-85 (2015) DOI:10.1016/j.ajhg.2015.04.021 PMID:29358272 (OI18) AUTHORS Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V TITLE FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. JOURNAL J Med Genet 55:278-284 (2018) DOI:10.1136/jmedgenet-2017-104999 PMID:27380894 (OI19) AUTHORS Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Rothlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V TITLE MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. JOURNAL Nat Commun 7:11920 (2016) DOI:10.1038/ncomms11920 PMID:31564437 (OI20) AUTHORS Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C TITLE Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. JOURNAL Am J Hum Genet 105:836-843 (2019) DOI:10.1016/j.ajhg.2019.08.008 PMID:33053334 (OI21) AUTHORS van Dijk FS, Semler O, Etich J, Kohler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nuchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Morgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D TITLE Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. JOURNAL Am J Hum Genet 107:989-999 (2020) DOI:10.1016/j.ajhg.2020.09.009 PMID:32181939 (OI22) AUTHORS Dubail J, Brunelle P, Baujat G, Huber C, Doyard M, Michot C, Chavassieux P, Khairouni A, Topouchian V, Monnot S, Koumakis E, Cormier-Daire V TITLE Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. JOURNAL J Bone Miner Res 35:1470-1480 (2020) DOI:10.1002/jbmr.4011 |