X-linked hypophosphatemia

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

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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

• hypophosphatemia

External links

• Template:Chorus