Furthermore, early-onset osteoporosis has been characterized as a heterozygous mutation of the Wnt family member 1 (WNT1) gene, while autosomal-recessive loss-of-function mutations at c.1096G > A/p.V366 M of the LRP5 gene, encoding for a receptor within the Wnt pathway, were identified as responsible for osteoporosis-pseudoglioma syndrome [129,165]. The gene discussed is LRP5; the disease is osteoporosis.