| Title |
Taxonomy of rare genetic metabolic bone disorders
|
|---|---|
| Published in |
Osteoporosis International, June 2015
|
| DOI | 10.1007/s00198-015-3188-9 |
| Pubmed ID | |
| Authors |
L. Masi, D. Agnusdei, J. Bilezikian, D. Chappard, R. Chapurlat, L. Cianferotti, J.-P. Devolgelaer, A. El Maghraoui, S. Ferrari, M. K. Javaid, J.-M. Kaufman, U. A. Liberman, G. Lyritis, P. Miller, N. Napoli, E. Roldan, S. Papapoulos, N. B. Watts, M. L. Brandi |
| 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. 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. 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. 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. 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. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Colombia | 1 | 2% |
| Unknown | 52 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 15% |
| Student > Ph. D. Student | 7 | 13% |
| Researcher | 6 | 11% |
| Professor | 5 | 9% |
| Student > Doctoral Student | 5 | 9% |
| Other | 11 | 21% |
| Unknown | 11 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 38% |
| Agricultural and Biological Sciences | 7 | 13% |
| Biochemistry, Genetics and Molecular Biology | 5 | 9% |
| Nursing and Health Professions | 4 | 8% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
| Other | 4 | 8% |
| Unknown | 12 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 49. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 January 2021.
All research outputs
#723,797
of 22,811,321 outputs
Outputs from Osteoporosis International
#86
of 3,609 outputs
Outputs of similar age
#9,331
of 264,753 outputs
Outputs of similar age from Osteoporosis International
#3
of 95 outputs
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