X-linked hypophosphatemia

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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.

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