Hypophosphatemic Rickets, X-Linked Dominant

Alternative Names

  • Hypophosphatemia, X-Linked
  • HYP
  • XLH
  • Vitamin D-Resistant Rickets, X-Linked
  • Hypophosphatemic Vitamin D-Resistant Rickets
  • HPDR
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

307800

Mode of Inheritance

X-linked dominant

Gene Map Locus

Xp22.11

Description

Hypophosphatemic Rickets, also known as hypophosphatemia, is a genetic condition characterized by low phosphorus levels in the blood and increased phosphorus wastage through excretion in the urine.  Since the condition is X-linked, more males are affected than females. 

The causative gene has been identified to be the PHEX gene on chromosome X. Mutations in this gene have been found to cause proteolytic degradation of at least one extracellular matrix glycoprotein that in turn leads to increased phosphate excretion at the proximal tubule. Bone mineralization is thus impaired, leading to the defects in the skeletal system.

Epidemiology in the Arab World

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Other Reports

Lebanon

Nabbout et al. (2009) reported an 18-year old patient diagnosed with X-linked hypophosphatemia in conjunction with Kallmann syndrome. 

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