X-linked hypophosphatemia
| X-linked hypophosphatemia | |
| ICD-10 | E83.3 |
|---|---|
| ICD-9 | 275.3 |
| OMIM | 307800 |
| DiseasesDB | 6513 |
| eMedicine | ped/1128 |
| MeSH | D007015 |
X-linked hypophosphatemia (hypophosphatemic rickets, vitamin D-resistant rickets) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that ingestion of Vitamin D is relatively ineffective.
It is associated with the gene PHEX on chromosome Xp22.1, which encodes a product that inactivates hormone-like substances (phosphatonins) that promote phosphate excretion and impair bone mineralization.
See also
External links