| H00506 | |
| H番号 | H00506 |
| 名称 | 骨形成不全症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | パミドロン酸二ナトリウム水和物 [DR:D00941] |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:20855225 著者 Michou L, Brown JP タイトル Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. 雑誌 Joint Bone Spine 78:252-8 (2011) DOI:10.1016/j.jbspin.2010.07.010 PMID:19878741 著者 Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM タイトル Classification of Osteogenesis Imperfecta revisited. 雑誌 Eur J Med Genet 53:1-5 (2010) DOI:10.1016/j.ejmg.2009.10.007 PMID:22863190 (OI5) 著者 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 タイトル A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. 雑誌 Am J Hum Genet 91:343-8 (2012) DOI:10.1016/j.ajhg.2012.06.005 PMID:21353196 (OI6) 著者 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 タイトル Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. 雑誌 Am J Hum Genet 88:362-71 (2011) DOI:10.1016/j.ajhg.2011.01.015 PMID:17055431 (OI7) 著者 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 タイトル CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. 雑誌 Cell 127:291-304 (2006) DOI:10.1016/j.cell.2006.08.039 PMID:17277775 (OI8) 著者 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 タイトル Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. 雑誌 Nat Genet 39:359-65 (2007) DOI:10.1038/ng1968 PMID:19781681 (OI9) 著者 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 タイトル PPIB mutations cause severe osteogenesis imperfecta. 雑誌 Am J Hum Genet 85:521-7 (2009) DOI:10.1016/j.ajhg.2009.09.001 PMID:20188343 (OI10) 著者 Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH タイトル Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 雑誌 Am J Hum Genet 86:389-98 (2010) DOI:10.1016/j.ajhg.2010.01.034 PMID:22718341 (OI11) 著者 Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC タイトル Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 雑誌 Hum Mutat 33:1589-98 (2012) DOI:10.1002/humu.22139 PMID:20579626 (OI12) 著者 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 タイトル Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. 雑誌 Am J Hum Genet 87:110-4 (2010) DOI:10.1016/j.ajhg.2010.05.016 PMID:22482805 (OI13) 著者 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 タイトル Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. 雑誌 Am J Hum Genet 90:661-74 (2012) DOI:10.1016/j.ajhg.2012.02.026 PMID:23316006 (OI14) 著者 Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS タイトル A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. 雑誌 Hum Mutat 34:582-6 (2013) DOI:10.1002/humu.22274 PMID:23434763 (OI15) 著者 Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F タイトル Mutations in WNT1 are a cause of osteogenesis imperfecta. 雑誌 J Med Genet 50:345-8 (2013) DOI:10.1136/jmedgenet-2013-101567 PMID:28817112 (OI16) 著者 Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH タイトル Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. 雑誌 Genet Med 20:411-419 (2018) DOI:10.1038/gim.2017.115 PMID:26027498 (OI17) 著者 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 タイトル Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 雑誌 Am J Hum Genet 96:979-85 (2015) DOI:10.1016/j.ajhg.2015.04.021 PMID:29358272 (OI18) 著者 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 タイトル FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. 雑誌 J Med Genet 55:278-284 (2018) DOI:10.1136/jmedgenet-2017-104999 PMID:27380894 (OI19) 著者 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 タイトル MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. 雑誌 Nat Commun 7:11920 (2016) DOI:10.1038/ncomms11920 PMID:31564437 (OI20) 著者 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 タイトル Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 雑誌 Am J Hum Genet 105:836-843 (2019) DOI:10.1016/j.ajhg.2019.08.008 PMID:33053334 (OI21) 著者 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 タイトル Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. 雑誌 Am J Hum Genet 107:989-999 (2020) DOI:10.1016/j.ajhg.2020.09.009 PMID:32181939 (OI22) 著者 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 タイトル Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. 雑誌 J Bone Miner Res 35:1470-1480 (2020) DOI:10.1002/jbmr.4011 |