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High bone mass osteogenesis imperfecta

MedGen UID:
1672817
•Concept ID:
C5190607
•
Disease or Syndrome
Synonyms: High bone mass OI; high bone mass OI; high bone mass osteogenesis imperfecta
SNOMED CT: High bone mass osteogenesis imperfecta (782781006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017791
Orphanet: ORPHA314029

Definition

A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHigh bone mass osteogenesis imperfecta

Professional guidelines

PubMed

Challenges of Fracture Management for Adults With Osteogenesis Imperfecta.
Gil JA, DeFroda SF, Sindhu K, Cruz AI Jr, Daniels AH
Orthopedics 2017 Jan 1;40(1):e17-e22. Epub 2016 Oct 13 doi: 10.3928/01477447-20161006-04. PMID: 27735980
ENDOCRINOLOGY AND ADOLESCENCE: Osteoporosis in children: diagnosis and management.
Saraff V, Högler W
Eur J Endocrinol 2015 Dec;173(6):R185-97. Epub 2015 Jun 3 doi: 10.1530/EJE-14-0865. PMID: 26041077
Osteogenesis imperfecta: practical treatment guidelines.
Antoniazzi F, Mottes M, Fraschini P, Brunelli PC, Tatò L
Paediatr Drugs 2000 Nov-Dec;2(6):465-88. doi: 10.2165/00128072-200002060-00005. PMID: 11127846

Recent clinical studies

Etiology

Imaging in osteogenesis imperfecta: Where we are and where we are going.
Gazzotti S, Sassi R, Aparisi Gómez MP, Moroni A, Brizola E, Miceli M, Bazzocchi A
Eur J Med Genet 2024 Apr;68:104926. Epub 2024 Feb 16 doi: 10.1016/j.ejmg.2024.104926. PMID: 38369057
Osteoporosis in children and young adults.
Sakka SD
Best Pract Res Clin Rheumatol 2022 Sep;36(3):101776. Epub 2022 Sep 13 doi: 10.1016/j.berh.2022.101776. PMID: 36109301
A Contemporary View of the Definition and Diagnosis of Osteoporosis in Children and Adolescents.
Ward LM, Weber DR, Munns CF, Högler W, Zemel BS
J Clin Endocrinol Metab 2020 May 1;105(5):e2088-97. doi: 10.1210/clinem/dgz294. PMID: 31865390Free PMC Article
Bone mass and mineralization in osteogenesis imperfecta.
Fratzl-Zelman N, Misof BM, Klaushofer K, Roschger P
Wien Med Wochenschr 2015 Jul;165(13-14):271-7. Epub 2015 Jul 25 doi: 10.1007/s10354-015-0369-2. PMID: 26208477
WNT signaling in bone homeostasis and disease: from human mutations to treatments.
Baron R, Kneissel M
Nat Med 2013 Feb;19(2):179-92. Epub 2013 Feb 6 doi: 10.1038/nm.3074. PMID: 23389618

Diagnosis

Imaging in osteogenesis imperfecta: Where we are and where we are going.
Gazzotti S, Sassi R, Aparisi Gómez MP, Moroni A, Brizola E, Miceli M, Bazzocchi A
Eur J Med Genet 2024 Apr;68:104926. Epub 2024 Feb 16 doi: 10.1016/j.ejmg.2024.104926. PMID: 38369057
A Contemporary View of the Definition and Diagnosis of Osteoporosis in Children and Adolescents.
Ward LM, Weber DR, Munns CF, Högler W, Zemel BS
J Clin Endocrinol Metab 2020 May 1;105(5):e2088-97. doi: 10.1210/clinem/dgz294. PMID: 31865390Free PMC Article
Genetic control of bone mass.
Boudin E, Fijalkowski I, Hendrickx G, Van Hul W
Mol Cell Endocrinol 2016 Sep 5;432:3-13. Epub 2015 Dec 30 doi: 10.1016/j.mce.2015.12.021. PMID: 26747728
Bone mass and mineralization in osteogenesis imperfecta.
Fratzl-Zelman N, Misof BM, Klaushofer K, Roschger P
Wien Med Wochenschr 2015 Jul;165(13-14):271-7. Epub 2015 Jul 25 doi: 10.1007/s10354-015-0369-2. PMID: 26208477
ENDOCRINOLOGY AND ADOLESCENCE: Osteoporosis in children: diagnosis and management.
Saraff V, Högler W
Eur J Endocrinol 2015 Dec;173(6):R185-97. Epub 2015 Jun 3 doi: 10.1530/EJE-14-0865. PMID: 26041077

Therapy

Safety and Efficacy of Denosumab in Children With Osteogenesis Imperfecta-the First Prospective Comparative Study.
Liu J, Lin X, Sun L, Zhang Q, Jiang Y, Wang O, Xing X, Xia W, Li M
J Clin Endocrinol Metab 2024 Jun 17;109(7):1827-1836. doi: 10.1210/clinem/dgad732. PMID: 38198649Free PMC Article
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Zhou W, van Rooij JG, van de Laarschot DM, Zervou Z, Bruggenwirth H, Appelman-Dijkstra NM, Ebeling PR, Demirdas S, Verkerk AJ, Zillikens MC
J Bone Miner Res 2023 Jun;38(6):896-906. Epub 2023 Apr 19 doi: 10.1002/jbmr.4801. PMID: 37076969Free PMC Article
Osteoporosis in children and young adults.
Sakka SD
Best Pract Res Clin Rheumatol 2022 Sep;36(3):101776. Epub 2022 Sep 13 doi: 10.1016/j.berh.2022.101776. PMID: 36109301
Targeting TGF-β for treatment of osteogenesis imperfecta.
Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B
J Clin Invest 2022 Apr 1;132(7) doi: 10.1172/JCI152571. PMID: 35113812Free PMC Article
Exploiting the WNT Signaling Pathway for Clinical Purposes.
Johnson ML, Recker RR
Curr Osteoporos Rep 2017 Jun;15(3):153-161. doi: 10.1007/s11914-017-0357-0. PMID: 28432596

Prognosis

Imaging in osteogenesis imperfecta: Where we are and where we are going.
Gazzotti S, Sassi R, Aparisi Gómez MP, Moroni A, Brizola E, Miceli M, Bazzocchi A
Eur J Med Genet 2024 Apr;68:104926. Epub 2024 Feb 16 doi: 10.1016/j.ejmg.2024.104926. PMID: 38369057
Evaluation of Body Composition in Paediatric Osteogenesis Imperfecta.
Gilani M, Shepherd S, Nichols B, Gerasimidis K, Choong Wong S, Mason A
J Clin Densitom 2022 Jan-Mar;25(1):81-88. Epub 2021 Jan 30 doi: 10.1016/j.jocd.2021.01.012. PMID: 33582031
A Contemporary View of the Definition and Diagnosis of Osteoporosis in Children and Adolescents.
Ward LM, Weber DR, Munns CF, Högler W, Zemel BS
J Clin Endocrinol Metab 2020 May 1;105(5):e2088-97. doi: 10.1210/clinem/dgz294. PMID: 31865390Free PMC Article
Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Polymorphisms associated with low bone mass and high risk of atraumatic fracture.
Zofkova I, Nemcikova P, Kuklik M
Physiol Res 2015;64(5):621-31. Epub 2015 Mar 24 doi: 10.33549/physiolres.932973. PMID: 25804099

Clinical prediction guides

Imaging in osteogenesis imperfecta: Where we are and where we are going.
Gazzotti S, Sassi R, Aparisi Gómez MP, Moroni A, Brizola E, Miceli M, Bazzocchi A
Eur J Med Genet 2024 Apr;68:104926. Epub 2024 Feb 16 doi: 10.1016/j.ejmg.2024.104926. PMID: 38369057
Safety and Efficacy of Denosumab in Children With Osteogenesis Imperfecta-the First Prospective Comparative Study.
Liu J, Lin X, Sun L, Zhang Q, Jiang Y, Wang O, Xing X, Xia W, Li M
J Clin Endocrinol Metab 2024 Jun 17;109(7):1827-1836. doi: 10.1210/clinem/dgad732. PMID: 38198649Free PMC Article
Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G, Moffatt P, Rauch F
Bone 2022 Jul;160:116400. Epub 2022 Mar 31 doi: 10.1016/j.bone.2022.116400. PMID: 35367406
A Contemporary View of the Definition and Diagnosis of Osteoporosis in Children and Adolescents.
Ward LM, Weber DR, Munns CF, Högler W, Zemel BS
J Clin Endocrinol Metab 2020 May 1;105(5):e2088-97. doi: 10.1210/clinem/dgz294. PMID: 31865390Free PMC Article
Polymorphisms associated with low bone mass and high risk of atraumatic fracture.
Zofkova I, Nemcikova P, Kuklik M
Physiol Res 2015;64(5):621-31. Epub 2015 Mar 24 doi: 10.33549/physiolres.932973. PMID: 25804099

Recent systematic reviews

Do Bisphosphonates Alleviate Pain in Children? A Systematic Review.
Celin MR, Simon JC, Krzak JJ, Fial AV, Kruger KM, Smith PA, Harris GF
Curr Osteoporos Rep 2020 Oct;18(5):486-504. doi: 10.1007/s11914-020-00621-3. PMID: 32960409
HR-pQCT Measures of Bone Microarchitecture Predict Fracture: Systematic Review and Meta-Analysis.
Mikolajewicz N, Bishop N, Burghardt AJ, Folkestad L, Hall A, Kozloff KM, Lukey PT, Molloy-Bland M, Morin SN, Offiah AC, Shapiro J, van Rietbergen B, Wager K, Willie BM, Komarova SV, Glorieux FH
J Bone Miner Res 2020 Mar;35(3):446-459. Epub 2019 Nov 19 doi: 10.1002/jbmr.3901. PMID: 31643098
Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review.
Castillo H, Samson-Fang L; American Academy for Cerebral Palsy and Developmental Medicine Treatment Outcomes Committee Review Panel
Dev Med Child Neurol 2009 Jan;51(1):17-29. doi: 10.1111/j.1469-8749.2008.03222.x. PMID: 19087101

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