Taxonomy of rare genetic metabolic bone disorders

摘要: This article reports a taxonomic classification of rare skeletal diseases based on metabolic phenotypes. It was prepared by The Skeletal Rare Diseases Working Group the International Osteoporosis Foundation (IOF) and includes 116 OMIM phenotypes with 86 affected genes. comprise group commonly associated severe clinical consequences. In recent years, description radiographic features several genetic bone disorders paralleled discovery key molecular pathways involved in regulation mineral metabolism. Including this information may improve recognition management patients. IOF recognized need formed (SRD-WG) basic scientists who developed taxonomy their pathogenesis. (RGMBDs) comprises phenotypes, genes related to homeostasis. were divided into four major groups, namely, due altered osteoclast, osteoblast, or osteocyte activity; matrix proteins; microenvironmental regulators; deranged calciotropic hormonal activity. provides first comprehensive will help development common shared diagnostic therapeutic for these patients also creation international registries diseases, step tests next generation sequencing performing large intervention trials assess efficacy orphan drugs.