KEGG   DISEASE: 骨粗鬆症
エントリ  
H01593                                                             
名称    
骨粗鬆症
  下位グループ
小児または若年発症の発達遅滞を伴う骨粗鬆症 (OPDD)
概要    
Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values fall progressively with age, the prevalence of osteoporosis increases with age. It has been estimated that approximately 50% of all women will have osteoporosis by the age of 80. Studies in twins and families indicate that genetic factors play an important role in the regulation of BMD and other determinants of osteoporotic fracture risk. Osteoporosis is a polygenic disorder, determined by the effects of several genes, each with relatively modest effects. Population-based studies and case-control studies have similarly identified polymorphisms in several candidate genes that have been associated with bone mass or osteoporotic fracture, including the vitamin D receptor, oestrogen receptor and collagen gene. Bisphosphonates, and in some patients denosumab, are first-line drugs for osteoporosis.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  骨症または軟骨変性症
   FB83  骨減少症
    H01593  骨粗鬆症
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06505  WNT シグナリング
   H01593  骨粗鬆症
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H01593  骨粗鬆症
パスウェイ 
hsa04310 Wnt signaling pathway   
hsa04820 Cytoskeleton in muscle cells   
ネットワーク
nt06505 WNT signaling
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
(BMND1) LRP5 [HSA:4041] [KO:K03068]
(BMND12) UGT2B17 [HSA:7367] [KO:K00699]
(BMND15) MIR2861 [HSA:100422910]
(BMND16) WNT1 [HSA:7471] [KO:K03209]
(BMND17) LGR4 [HSA:55366] [KO:K04309]
(BMND18) PLS3 [HSA:5358] [KO:K17336]
(OPDD) COPB2 [HSA:9276] [KO:K17302]
PDLIM4 [HSA:8572] [KO:K23353]
CALCR [HSA:799] [KO:K04576]
COL1A1 [HSA:1277] [KO:K06236]
COL1A2 [HSA:1278] [KO:K06236]
治療薬   
テリパラチド酢酸塩 [DR:D03358]
テリパラチド [DR:D06078]
アバロパラチド酢酸塩 [DR:D11563]
メテノロン酢酸エステル [DR:D01375]
エストラジオール [DR:D00105]
エストリオール [DR:D00185]
テストステロンエナント酸エステル・吉草酸エストラジオール [DR:D04454]
エストラジオール・レボノルゲストレル [DR:D09187]
アルファカルシドール [DR:D01518]
カルシトリオール [DR:D00129]
エルデカルシトール [DR:D07578]
メナテトレノン [DR:D00100]
L-アスパラギン酸カルシウム水和物 [DR:D01598]
リン酸水素カルシウム水和物 [DR:D00937]
ラロキシフェン塩酸塩 [DR:D02217]
ラロキシフェン塩酸塩水和物 [DR:D10606]
バゼドキシフェン酢酸塩 [DR:D03062]
エルカトニン [DR:D03287]
エチドロン酸二ナトリウム [DR:D00314]
アレンドロン酸ナトリウム水和物 [DR:D00939]
イバンドロン酸ナトリウム水和物 [DR:D04486]
リセドロン酸ナトリウム水和物 [DR:D03234]
ゾレドロン酸水和物 [DR:D01968]
イプリフラボン [DR:D01338]
デノスマブ [DR:D03684]
ロモソズマブ [DR:D10156]
ミノドロン酸水和物 [DR:D09198]
リンク   
ICD-11: FB83.1
ICD-10: M80 M81 M82
MeSH: D010024
OMIM: 166710 601884 612560 613418 615221 615311 300910 619884
文献    
  著者
Stewart TL, Ralston SH
  タイトル
Role of genetic factors in the pathogenesis of osteoporosis.
  雑誌
J Endocrinol 166:235-45 (2000)
DOI:10.1677/joe.0.1660235
文献    
  著者
Noordin S, Glowacki J
  タイトル
Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing.
  雑誌
Rheumatol Int 36:1-6 (2016)
DOI:10.1007/s00296-015-3319-9
文献    
  著者
Saito M, Marumo K
  タイトル
Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus.
  雑誌
Osteoporos Int 21:195-214 (2010)
DOI:10.1007/s00198-009-1066-z
文献    
PMID:12908099 (PDLIM4)
  著者
Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M
  タイトル
Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women.
  雑誌
J Hum Genet 48:342-5 (2003)
DOI:10.1007/s10038-003-0035-1
文献    
PMID:9675109 (CALCR)
  著者
Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML
  タイトル
Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women.
  雑誌
Biochem Biophys Res Commun 248:190-5 (1998)
DOI:10.1006/bbrc.1998.8880
文献    
PMID:8841196 (COL1A1)
  著者
Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH
  タイトル
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.
  雑誌
Nat Genet 14:203-5 (1996)
DOI:10.1038/ng1096-203
文献    
PMID:2052622 (COL1A2)
  著者
Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ
  タイトル
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
  雑誌
Proc Natl Acad Sci U S A 88:5423-7 (1991)
DOI:10.1073/pnas.88.12.5423
文献    
PMID:14727154 (LRP5)
  著者
Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K
  タイトル
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
  雑誌
J Hum Genet 49:80-6 (2004)
DOI:10.1007/s10038-003-0111-6
文献    
PMID:18992858 (UGT2B17)
  著者
Yang TL, Chen XD, Guo Y, Lei SF, Wang JT, Zhou Q, Pan F, Chen Y, Zhang ZX, Dong SS, Xu XH, Yan H, Liu X, Qiu C, Zhu XZ, Chen T, Li M, Zhang H, Zhang L, Drees BM, Hamilton JJ, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW
  タイトル
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.
  雑誌
Am J Hum Genet 83:663-74 (2008)
DOI:10.1016/j.ajhg.2008.10.006
文献    
PMID:19920351 (MIR2861)
  著者
Li H, Xie H, Liu W, Hu R, Huang B, Tan YF, Xu K, Sheng ZF, Zhou HD, Wu XP, Luo XH
  タイトル
A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans.
  雑誌
J Clin Invest 119:3666-77 (2009)
DOI:10.1172/JCI39832
文献    
PMID:23499310 (WNT1)
  著者
Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH
  タイトル
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
  雑誌
Am J Hum Genet 92:590-7 (2013)
DOI:10.1016/j.ajhg.2013.02.009
文献    
PMID:23644456 (LGR4)
  著者
Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K
  タイトル
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
  雑誌
Nature 497:517-20 (2013)
DOI:10.1038/nature12124
文献    
PMID:24088043 (PLS3)
  著者
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G
  タイトル
PLS3 mutations in X-linked osteoporosis with fractures.
  雑誌
N Engl J Med 369:1529-36 (2013)
DOI:10.1056/NEJMoa1308223
文献    
PMID:34450031 (COPB2)
  著者
Marom R, Burrage LC, Venditti R, Clement A, Blanco-Sanchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Westerfield M, De Matteis MA, Lee B
  タイトル
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
  雑誌
Am J Hum Genet 108:1710-1724 (2021)
DOI:10.1016/j.ajhg.2021.08.002
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