X-linked hypophosphatemia
X-linked hypophosphatemia | |
ICD-10 | E83.3 |
---|---|
ICD-9 | 275.3 |
OMIM | 307800 |
DiseasesDB | 6513 |
eMedicine | ped/1128 |
MeSH | D007015 |
Overview
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
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