ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2015
Taxonomy of rare genetic metabolic bone disorders.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- NOC4L coordinates neuronal and pharyngeal arch development by regulating ribosome biogenesis.Journal of molecular cell biology · 2026Article
- Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa.Orphanet journal of rare diseases · 2025Article
- Bridging the knowledge gap in rare bone disorders: insights from the APCO Asia-Pacific Rare Bone Disorders Engagement (ASPIRE) survey.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- Clinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.BMC medical imaging · 2025Article
- Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.Calcified tissue international · 2025Review
- Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.Calcified tissue international · 2025Review
- A practical use of bone turnover markers in management of patients with skeletal fragility.Endocrine · 2025Review
- Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population.Orphanet journal of rare diseases · 2025Article
- Inhibition of miR338 rescues cleidocranial dysplasia in Runx2 mutant mice partially via the Hif1a-Vegfa axis.Experimental & molecular medicine · 2023Article
- Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate.Scientific reports · 2022Article
- Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.International journal of molecular sciences · 2022Review
- Transcription Factor KLF7 Promotes Osteoclast Differentiation by Suppressing HO-1.Frontiers in genetics · 2022Article
- Congenital Metabolic Bone Disorders as a Cause of Bone Fragility.International journal of molecular sciences · 2021Review
- X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan.Annals of medicine and surgery (2012) · 2021Article
- Bone fragility in patients affected by congenital diseases non skeletal in origin.Orphanet journal of rare diseases · 2021Review
- Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults.Endocrinology and metabolism (Seoul, Korea) · 2020Article
- Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).Orphanet journal of rare diseases · 2020Review
- Drugs for the treatment of metabolic bone diseases.British journal of clinical pharmacology · 2019Article
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- Genetics of osteoporosis: searching for candidate genes for bone fragility.Archives of endocrinology and metabolism · 2016Review
Corrections and comments
- Erratum issued
Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThis 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.
introductionRare 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.
methodsIOF 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.
resultsThis 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.
conclusionsThis 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.
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