| X-linked hypophosphatemia | |
|---|---|
| Classification and external resources | |
| ICD-10 | E83.3 |
| ICD-9 | 275.3 |
| OMIM | 307800 |
| DiseasesDB | 6513 |
| eMedicine | ped/1128 |
| MeSH | [1] |
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 can cause bone deformity including short stature and genu varum (bow leggedness).
The leg deformity can be treated with Ilizarov frames and CHAOS surgery.
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
- 00754 at CHORUS
- X-linked hypophosphatemia - the PHEX entry in the OMIM
- The PHEXdb - a database of nucleotide variation in the PHEX gene
- The XLH Network Inc. - a worldwide patient support organization
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