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The most common of these is X-linked hypophosphatemia. In this review we will broadly discuss the other less common and clinically distinct forms of renal hypophosphatemia, with a focus on the autosomal dominant and autosomal recessive types.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Recent Findings<\/jats:title>\n                    <jats:p>\n                      Variants in multiple genes cause dominant (\n                      <jats:italic>FGF23, SGK3, FGFR1<\/jats:italic>\n                      ), recessive (\n                      <jats:italic>DMP1, ENPP1, FAM20C<\/jats:italic>\n                      ,\n                      <jats:italic>INPPL1<\/jats:italic>\n                      ) or even somatic (\n                      <jats:italic>NRAS, HRAS, GNAS<\/jats:italic>\n                      , gene fusions) conditions of FGF23 excess, with important phenotypic differences. For example, in autosomal dominant hypophosphatemic rickets due to\n                      <jats:italic>FGF23<\/jats:italic>\n                      variants, iron deficiency drives the phenotype, while\n                      <jats:italic>ENPP1<\/jats:italic>\n                      variants cause phenotypes ranging from severe neonatal vascular calcifications to rickets or osteoporosis. Other gene abnormalities cause FGF23-independent hypophosphatemia, often involving kidney disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Recognizing the different mechanisms and phenotypes of hypophosphatemic conditions is critical to prognosis, management and to developing more effective therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11914-026-00963-4","type":"journal-article","created":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:39:25Z","timestamp":1783395565000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia"],"prefix":"10.1007","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7284-3467","authenticated-orcid":false,"given":"Erik A.","family":"Imel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,7]]},"reference":[{"issue":"3","key":"963_CR1","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1530\/EJE-08-0818","volume":"160","author":"SS Beck-Nielsen","year":"2009","unstructured":"Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. 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