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
Wikimedia Foundation.
2010.
Look at other dictionaries:
X-linked hypophosphatemia — a form of familial hypophosphatemic rickets, with X linked dominant inheritance and caused by mutation at locus Xp22.2 p22.1; the bone disease is due to defects in the resorption of phosphate by the proximal renal tubule and in the regulation of… … Medical dictionary
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X-linked hypophosphatemic rickets — X linked hypophosphatemia … Medical dictionary
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XLH — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 6513 ICD10 = ICD9 = ICDO = OMIM = 307800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D053098X linked Hypophosphatemia (XLH) is a genetic disease characterized by mutation in the… … Wikipedia
