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Browse result for Severe osteopetrosis

※ introduction

    Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Sch?nberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break. It is one of the hereditary causes of osteosclerosis. It is considered to be the prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning osteoclasts and their inability to resorb bone. Although human osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features, all forms share a single pathogenic nexus in the osteoclast. The exact molecular defects or location of the mutations taking place are unknown. Osteopetrosis was first described in 1903, by German radiologist Albers-Sch?nberg.

Reference
Wiki: Severe osteopetrosis



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00021P129316714
SRC
Proto-oncogene tyrosine-protein kinase Src
Homo sapiens