Taxonomy of XXXX .

@entity1 @entity170 @entity79 @entity74 @entity1141
UNASSIGNED: This article reports a taxonomic classification of rare @entity1141 based on metabolic phenotypes. It was prepared by The Skeletal Rare Diseases Working Group of the International @entity170 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 @entity79 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 @entity1141 may improve the recognition and management of affected @entity1 . 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 @entity1141 based on their metabolic pathogenesis. RESULTS: This taxonomy of @entity74 ( @entity74 ) 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 @entity1141 based on deranged metabolic activity. This classification will help in the development of common and shared diagnostic and therapeutic pathways for these @entity1 and also in the creation of international registries of rare @entity1141 , 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.
