X-Linked Hypophosphatemia
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X-Linked Hypophosphatemia Overview

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Learn About X-Linked Hypophosphatemia

What is the definition of X-Linked Hypophosphatemia?
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.
What are the alternative names for X-Linked Hypophosphatemia?
  • X-linked hypophosphatemia
  • HPDR
  • Hypophophatemia, X-linked
  • Hypophophatemic vitamin D-resistant rickets
  • Hypophosphatemic rickets, X-linked dominant
  • Vitamin D-Resistant Rickets, X-linked
  • X-linked hypophosphatemic rickets
  • XLH
Who are the top X-Linked Hypophosphatemia Local Doctors?
Elite in X-Linked Hypophosphatemia
Elite in X-Linked Hypophosphatemia
Referral may be required
Florence, IT 

Maria Brandi practices practicing medicine in Florence, Italy. Brandi is rated as an Elite expert by MediFind in the treatment of X-Linked Hypophosphatemia. They are also highly rated in 50 other conditions, according to our data. Their clinical expertise encompasses Osteoporosis, X-Linked Hypophosphatemia, Hypophosphatemia, Parathyroidectomy, and Hormone Replacement Therapy (HRT).

Elite in X-Linked Hypophosphatemia
Elite in X-Linked Hypophosphatemia
Referral may be required
401 Smyth Rd, R250H, K1H 8L1, 
Ottawa, ON, CA 

Leanne Ward practices practicing medicine in Ottawa, Canada. Ms. Ward is rated as an Elite expert by MediFind in the treatment of X-Linked Hypophosphatemia. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Rickets, X-Linked Hypophosphatemia, Hypophosphatemia, and Malnutrition.

 
 
 
 
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Elite in X-Linked Hypophosphatemia
Dr. Michael J. Econs
Endocrinology
Elite in X-Linked Hypophosphatemia
Dr. Michael J. Econs
Endocrinology
Referral required

Office

1120 W Michigan St, 
Indianapolis, IN 
317-274-1339
Languages Spoken:
English
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Accepting New Patients

Michael Econs is an Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Econs is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Osteosclerosis Autosomal Dominant, Osteopetrosis, X-Linked Hypophosphatemia, and Hypophosphatemia. Dr. Econs is currently accepting new patients.

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What are the latest X-Linked Hypophosphatemia Clinical Trials?
ATP (Adenosine Triphosphate) Concentration Measurement by Phosphorus-31 Spectroscopy in Phosphate Diabetes
ATP (Adenosine Triphosphate) Concentration Measurement by Phosphorus-31 Spectroscopy in Phosphate Diabetes
Enrollment Status: Recruiting
Publish Date: July 23, 2026
Intervention Type: Diagnostic test
Study Phase: Not Applicable

Summary: Phosphate diabetes is defined by urinary phosphate wasting due to impaired tubular reabsorption. It can be classified based on either a genetic or acquired origin. Chronic hypophosphatemia causes rickets in children, leading to growth disorders, bone deformities, and bone pain. In adults, it results in osteomalacia, pseudofractures, as well as muscle fatigue and weakness during exertion. X-linked ...

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An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH)
An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH)
Enrollment Status: Recruiting
Publish Date: July 09, 2026

Summary: This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH). The main objective of this XLH Registry is to collect data to characterise the treatment, progression and long-term outcomes of XLH in both adult and paediatric settings.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center