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
Dr. Michael Econs
Endocrinology
Elite in X-Linked Hypophosphatemia
Dr. Michael Econs
Endocrinology

Indiana University Health University Hospital

550 University Blvd, 
Indianapolis, IN 
317-944-5000
Languages Spoken:
English
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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.

Elite in X-Linked Hypophosphatemia
Dr. Thomas J. Weber
Endocrinology
Elite in X-Linked Hypophosphatemia
Dr. Thomas J. Weber
Endocrinology

Duke Endocrinology Clinic - Clinic 1A

30 Duke Medicine Cir, 
Durham, NC 
919-668-5360
Experience:
37+ years
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Thomas Weber is an Endocrinologist practicing medicine in Durham, North Carolina. He has been practicing medicine for over 37 years. Dr. Weber is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Hypophosphatemia, Rickets, X-Linked Hypophosphatemia, Malnutrition, and Parathyroidectomy. Dr. Weber is board certified in American Board Of Internal Med, Endocrinology, Diabetes & Meta.

 
 
 
 
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Elite in X-Linked Hypophosphatemia
Dr. Erik Imel
Endocrinology
Elite in X-Linked Hypophosphatemia
Dr. Erik Imel
Endocrinology

IU Health Physicians Endocrinology Metabolism & Diabetes (University BLVD)

550 University Blvd # 2180, 
Indianapolis, IN 
317-843-0000
Languages Spoken:
English
See accepted insurances

Erik Imel is an Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Imel is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses X-Linked Hypophosphatemia, Malnutrition, Osteomalacia, Albright's Hereditary Osteodystrophy, and Parathyroidectomy.

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What are the latest X-Linked Hypophosphatemia Clinical Trials?
Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR)
Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR)
Enrollment Status: Recruiting
Publish Date: April 16, 2026
Intervention Type: Biological

Summary: FGF23 is the cornerstone of phosphate / calcium / vitamin D metabolism: it is synthesized mainly by osteocytes and acts as a phosphaturizing agent, inhibitor of dihydroxyvitamin D, and inhibitor of synthesis and secretion of PTH in most tissues. The specific role of FGF23 on bone has yet to be demonstrated. In osteoblasts, overexpression of FGF23 in vitro suppresses not only osteoblastic different...

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The ENERGY Study: An Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 in Infants With Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficiency or ATP-binding Cassette Sub-family C Member 6 (ABCC6) Deficiency
The ENERGY Study: An Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 in Infants With Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficiency or ATP-binding Cassette Sub-family C Member 6 (ABCC6) Deficiency
Enrollment Status: Recruiting
Publish Date: March 24, 2026
Intervention Type: Drug
Study Phase: Phase 1

Summary: The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.

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