X-linked hypophosphatemia

X-linked hypophosphatemia

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 6513
ICD10 = ICD10|E|83|3|e|70
ICD9 = ICD9|275.3
ICDO =
OMIM = 307800
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1128
MeshName =
MeshNumber =
MeshID = 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 can cause bone deformity including short stature and genu varum (bow leggedness)

The leg deformity can be treated with lizorov 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.

ee also

* hypophosphatemia

External links

*
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307800 X-linked hypophosphatemia] - the PHEX entry in the OMIM
* [http://www.phexdb.mcgill.ca/ The PHEXdb] - a database of nucleotide variation in the PHEX gene
* [http://xlhnetwork.org/ The XLH Network Inc.] - a worldwide patient support organization


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Look at other dictionaries:

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