Vitamin D-dependent rickets, type 2

Common Name(s)

Vitamin D-dependent rickets, type 2

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B ({600785}) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Vitamin D-dependent rickets, type 2" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.
 

Status: Recruiting

Condition Summary: Autosomal Dominant Hypophosphatemic Rickets

 

Last Updated: 9 Aug 2017

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Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
 

Status: Recruiting

Condition Summary: Generalized Arterial Calcification of Infancy; Autosomal Recessive Hypophosphatemic Rickets Type 2

 

Last Updated: 14 Aug 2018

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Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets
 

Status: Recruiting

Condition Summary: Hypophosphatemia; Hypophosphatemic Rickets; Pain, Chronic

 

Last Updated: 26 Jun 2018

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