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Disorder of bone

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
Synonyms: Bone disease; Bone disorder; Rare bone disease related to a common gene or pathway defect
SNOMED CT: Bone disease (76069003); Osteopathia (76069003); Disorder of bone (76069003)
 
Monarch Initiative: MONDO:0005381
Orphanet: ORPHA364803

Definition

Diseases of bones. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of bone

Professional guidelines

PubMed

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR
Osteoporos Int 2019 Sep;30(9):1713-1722. Epub 2019 Mar 26 doi: 10.1007/s00198-019-04921-y. PMID: 30915507
Shapiro JR, Lewiecki EM
J Bone Miner Res 2017 Oct;32(10):1977-1980. Epub 2017 Aug 16 doi: 10.1002/jbmr.3226. PMID: 28731215

Recent clinical studies

Etiology

Han X, Shen J, Chen S, Cai Z, Zhu Y, Yi W, Li K, Cai W, Tao B, Cui W, Bai D
Biomaterials 2023 Apr;295:122057. Epub 2023 Feb 15 doi: 10.1016/j.biomaterials.2023.122057. PMID: 36805244
Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Li Y, Li J, Chen L, Xu L
Curr Stem Cell Res Ther 2020;15(7):639-645. doi: 10.2174/1574888X15666200501235735. PMID: 32357819
Sprague SM
Curr Opin Endocrinol Diabetes Obes 2010 Dec;17(6):535-9. doi: 10.1097/MED.0b013e3283400945. PMID: 21030840
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

Diagnosis

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Appelman-Dijkstra NM, Papapoulos SE
Best Pract Res Clin Endocrinol Metab 2018 Oct;32(5):657-668. Epub 2018 May 26 doi: 10.1016/j.beem.2018.05.005. PMID: 30449547
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Dec;101(6):711-720. Epub 2018 Oct 10 doi: 10.1111/ejh.13153. PMID: 30055055
Winn N, Lalam R, Cassar-Pullicino V
Wien Med Wochenschr 2017 Feb;167(1-2):9-17. Epub 2016 Oct 19 doi: 10.1007/s10354-016-0517-3. PMID: 27761746
Sprague SM
Curr Opin Endocrinol Diabetes Obes 2010 Dec;17(6):535-9. doi: 10.1097/MED.0b013e3283400945. PMID: 21030840

Therapy

Damasiewicz MJ, Nickolas TL
Curr Opin Nephrol Hypertens 2020 Mar;29(2):221-226. doi: 10.1097/MNH.0000000000000585. PMID: 31833938Free PMC Article
Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR
Osteoporos Int 2019 Sep;30(9):1713-1722. Epub 2019 Mar 26 doi: 10.1007/s00198-019-04921-y. PMID: 30915507
Ferraz-de-Souza B, Correa PH
Arq Bras Endocrinol Metabol 2013 Nov;57(8):577-82. doi: 10.1590/s0004-27302013000800001. PMID: 24343625
Bolland MJ, Cundy T
J Clin Pathol 2013 Nov;66(11):924-7. Epub 2013 Sep 16 doi: 10.1136/jclinpath-2013-201688. PMID: 24043712
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

Prognosis

Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M
Int J Mol Sci 2021 Apr 21;22(9) doi: 10.3390/ijms22094303. PMID: 33919113Free PMC Article
Li Y, Li J, Chen L, Xu L
Curr Stem Cell Res Ther 2020;15(7):639-645. doi: 10.2174/1574888X15666200501235735. PMID: 32357819
Bolland MJ, Cundy T
J Clin Pathol 2013 Nov;66(11):924-7. Epub 2013 Sep 16 doi: 10.1136/jclinpath-2013-201688. PMID: 24043712
Griz L, Caldas G, Bandeira C, Assunção V, Bandeira F
Arq Bras Endocrinol Metabol 2006 Aug;50(4):814-22. doi: 10.1590/s0004-27302006000400026. PMID: 17117306
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

Clinical prediction guides

Mahmoud I, Bouden S, Sahli M, Rouached L, Ben Tekaya A, Tekaya R, Saidane O, Abdelmoula L
J Pediatr Orthop B 2024 May 1;33(3):283-289. Epub 2023 Jun 20 doi: 10.1097/BPB.0000000000001104. PMID: 37339526
Jeffery TC, Chang AB, Conwell LS
Cochrane Database Syst Rev 2023 Jan 10;1(1):CD002010. doi: 10.1002/14651858.CD002010.pub5. PMID: 36625789Free PMC Article
Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M
Int J Mol Sci 2021 Apr 21;22(9) doi: 10.3390/ijms22094303. PMID: 33919113Free PMC Article
Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR
Osteoporos Int 2019 Sep;30(9):1713-1722. Epub 2019 Mar 26 doi: 10.1007/s00198-019-04921-y. PMID: 30915507
Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S
Arch Dis Child 2014 Mar;99(3):211-5. Epub 2013 Nov 25 doi: 10.1136/archdischild-2013-305037. PMID: 24276437

Recent systematic reviews

Mahmoud I, Bouden S, Sahli M, Rouached L, Ben Tekaya A, Tekaya R, Saidane O, Abdelmoula L
J Pediatr Orthop B 2024 May 1;33(3):283-289. Epub 2023 Jun 20 doi: 10.1097/BPB.0000000000001104. PMID: 37339526
Jeffery TC, Chang AB, Conwell LS
Cochrane Database Syst Rev 2023 Jan 10;1(1):CD002010. doi: 10.1002/14651858.CD002010.pub5. PMID: 36625789Free PMC Article
Brenckmann C, Papaioannou A
Cochrane Database Syst Rev 2001;(4):CD002010. doi: 10.1002/14651858.CD002010. PMID: 11687132

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