X linked dominant hypophosphathemia

XLH is inherited in an X-linked dominant manner. This is because the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. A female with XLH has a 50% chance of passing XLH to each of her children. A male with XLH will pass XLH to all of his daughters, but to none of his sons. In some cases, XLH is not inherited from a parent, but occurs in a person with no family history of XLH, due to a new (de novo) mutation in the responsible gene (the PHEX gene).

Last modified
28 July 2019
HP:0001423 X linked dominant

Some diseases only, or mainly, effect males. This occurs when the abnormal gene is on the X chromosome. Because men have one X chromosome and...

Rare Condition

X Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is known as the most common hereditary metabolic rickets with a prevalence of 1:20,000- 60,000. Manifestations are bone deformities (particularly bowing of...