VDR function has not been fully characterized.

Vitamin D-dependent rickets, type 2A is associated with mutations in the VDR gene on chromosome 12.

Genetic testing for VDR is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features.

No clinical trials have been registered for vitamin D-dependent rickets, type 2A.

13 publications have been identified in PubMed for vitamin D-dependent rickets, type 2A. Research spans Case Report / Case Series (62%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (15%).

Recent Publications

• Lodefalk M (2025). [PMID: 40383122](https://pubmed.ncbi.nlm.nih.gov/40383122/). *Hormone research in paediatrics*. [Case Report / Case Series]

• Mehak NU (2025). [PMID: 40219799](https://pubmed.ncbi.nlm.nih.gov/40219799/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]

• Improda N (2025). [PMID: 40225330](https://pubmed.ncbi.nlm.nih.gov/40225330/). *Frontiers in endocrinology*. [Case Report / Case Series]

• Hasegawa K (2025). [PMID: 40201379](https://pubmed.ncbi.nlm.nih.gov/40201379/). *Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology*. [Case Report / Case Series]

• Muto M (2025). [PMID: 40763778](https://pubmed.ncbi.nlm.nih.gov/40763778/). *Nephrology (Carlton, Vic.)*. [Case Report / Case Series]

• Mura-Escorche G (2025). [PMID: 40943461](https://pubmed.ncbi.nlm.nih.gov/40943461/). *International journal of molecular sciences*. [Case Report / Case Series]

• Suzuki S (2025). [PMID: 41083377](https://pubmed.ncbi.nlm.nih.gov/41083377/). *The Journal of veterinary medical science*. [Epidemiology / Natural History]

• Mathew V (2025). [PMID: 39862309](https://pubmed.ncbi.nlm.nih.gov/39862309/). *Pediatric nephrology (Berlin, Germany)*. [Epidemiology / Natural History]

• Chiramel MJ (2025). [PMID: 39716449](https://pubmed.ncbi.nlm.nih.gov/39716449/). *Pediatric dermatology*. [Case Report / Case Series]

• Han S (2025). [PMID: 40768184](https://pubmed.ncbi.nlm.nih.gov/40768184/). *Journal of endocrinological investigation*. [Case Report / Case Series]