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vitamin D-dependent rickets, type 2A

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.

Synonyms

  • Pddr 2A
  • Pseudovitamin D-deficiency, type 2A
  • VDDR2A
  • VDR vitamin D-dependent rickets, type 2
  • generalised resistance to 1,25-dihydroxyvitamin D
  • generalized resistance to 1,25-dihydroxyvitamin D
  • hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia
  • hypocalcemic vitamin D-resistant rickets
  • rickets, hereditary vitamin D-resistant
  • rickets, vitamin D-resistant, type IIA
  • rickets-alopecia syndrome
  • vitamin D dependent rickets 2a
  • vitamin D receptor deficiency rickets
  • vitamin D-dependent rickets, type 2 caused by mutation in VDR
  • vitamin D-dependent rickets, type 2A
  • vitamin D-dependent rickets, type 2A, with or without alopecia
  • vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol
  • vitamin d-dependent rickets type II with alopecia
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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