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Osteoclast-Rich Osteopetrosis

MedGen UID:
1373678
•Concept ID:
C4330904
•
Disease or Syndrome

Definition

A form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteoclast-Rich Osteopetrosis

Professional guidelines

PubMed

Osteopetrosis: genetics, treatment and new insights into osteoclast function.
Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH
Nat Rev Endocrinol 2013 Sep;9(9):522-36. Epub 2013 Jul 23 doi: 10.1038/nrendo.2013.137. PMID: 23877423

Recent clinical studies

Etiology

Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, Amling M, Howaldt HP, Kornak U
J Bone Miner Res 2020 Jul;35(7):1322-1332. Epub 2020 Mar 19 doi: 10.1002/jbmr.3995. PMID: 32119750

Diagnosis

Heritable sclerosing bone disorders: presentation and new molecular mechanisms.
de Vernejoul MC, Kornak U
Ann N Y Acad Sci 2010 Mar;1192:269-77. doi: 10.1111/j.1749-6632.2009.05244.x. PMID: 20392246
Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor.
Nicholls BM, Bredius RG, Hamdy NA, Gerritsen EJ, Lankester AC, Hogendoorn PC, Nesbitt SA, Horton MA, Flanagan AM
J Bone Miner Res 2005 Dec;20(12):2264-70. Epub 2005 Aug 8 doi: 10.1359/JBMR.050807. PMID: 16294279

Prognosis

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.
Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C
Bone 2017 Apr;97:126-129. Epub 2017 Jan 14 doi: 10.1016/j.bone.2017.01.012. PMID: 28095295

Clinical prediction guides

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.
Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C
Bone 2017 Apr;97:126-129. Epub 2017 Jan 14 doi: 10.1016/j.bone.2017.01.012. PMID: 28095295

Supplemental Content

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    Practice guidelines

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