Synonyms CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA, CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA, Calcinosis, Tumoral, With Hyperphosphatemia + [24] |
Introduction An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone. |
Target |
Mechanism Phosphates modulators |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication |
Drug Highest PhaseApproved |
First Approval Ctry. / Loc. JP |
First Approval Date30 Mar 2012 |
Start Date01 Mar 2008 |
Sponsor / Collaborator |
Start Date19 Nov 2001 |
Sponsor / Collaborator |