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. 2015 Oct;26(10):2529-58.
doi: 10.1007/s00198-015-3188-9. Epub 2015 Jun 13.

Taxonomy of rare genetic metabolic bone disorders

L Masi  1 , D Agnusdei  2 , J Bilezikian  3 , D Chappard  4 , R Chapurlat  5 , L Cianferotti  1 , J-P Devolgelaer  6 , A El Maghraoui  7 , S Ferrari  8 , M K Javaid  9 , J-M Kaufman  10 , U A Liberman  11 , G Lyritis  12 , P Miller  13 , N Napoli  14 , E Roldan  15 , S Papapoulos  16 , N B Watts  17 , M L Brandi  18
Affiliations

Taxonomy of rare genetic metabolic bone disorders

L Masi et al. Osteoporos Int. 2015 Oct.

Erratum in

  • Erratum to: Taxonomy of rare genetic metabolic bone disorders.
    Masi L, Agnusdei D, Bilezikian J, Chappard D, Chapurlat R, Cianferotti L, Devolgelaer JP, El Maghraoui A, Ferrari S, Javaid K, Kaufman JM, Liberman UA, Lyritis G, Miller P, Napoli N, Roldan E, Papapoulos S, Watts NB, Brandi ML. Masi L, et al. Osteoporos Int. 2015 Nov;26(11):2717-8. doi: 10.1007/s00198-015-3237-4. Osteoporos Int. 2015. PMID: 26370825 No abstract available.

Abstract

This article reports a taxonomic classification of rare skeletal diseases based on metabolic phenotypes. It was prepared by The Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation (IOF) and includes 116 OMIM phenotypes with 86 affected genes.

Introduction: Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences. In recent years, the description of the clinical phenotypes and radiographic features of several genetic bone disorders was paralleled by the discovery of key molecular pathways involved in the regulation of bone and mineral metabolism. Including this information in the description and classification of rare skeletal diseases may improve the recognition and management of affected patients.

Methods: IOF recognized this need and formed a Skeletal Rare Diseases Working Group (SRD-WG) of basic and clinical scientists who developed a taxonomy of rare skeletal diseases based on their metabolic pathogenesis.

Results: This taxonomy of rare genetic metabolic bone disorders (RGMBDs) comprises 116 OMIM phenotypes, with 86 affected genes related to bone and mineral homeostasis. The diseases were divided into four major groups, namely, disorders due to altered osteoclast, osteoblast, or osteocyte activity; disorders due to altered bone matrix proteins; disorders due to altered bone microenvironmental regulators; and disorders due to deranged calciotropic hormonal activity.

Conclusions: This article provides the first comprehensive taxonomy of rare metabolic skeletal diseases based on deranged metabolic activity. This classification will help in the development of common and shared diagnostic and therapeutic pathways for these patients and also in the creation of international registries of rare skeletal diseases, the first step for the development of genetic tests based on next generation sequencing and for performing large intervention trials to assess efficacy of orphan drugs.

Keywords: Bone metabolism; Genetic bone diseases; Metabolic bone diseases; Rare bone diseases; Taxonomy.

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