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vitamin D-dependent rickets, type 2 (HVDRR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitamin D-dependent rickets, type 2

MONDO:0019642

Also known as:HVDRRVDDR IIVDDR2

Find Clinical TrialsTrials

Overview

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (9 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for vitamin D-dependent rickets, type 2. Research spans Case Report / Case Series (56%), Clinical Trial Publication (22%), and Review / Meta-Analysis (11%).

Recent Publications

Linglart A (2026). [PMID: 42044650](https://pubmed.ncbi.nlm.nih.gov/42044650/). *Lancet Diabetes Endocrinol*. [Clinical Trial Publication]
Munteanu M (2026). [PMID: 41176198](https://pubmed.ncbi.nlm.nih.gov/41176198/). *Bone*. [Clinical Trial Publication]
Köprülü Ö (2025). [PMID: 40959932](https://pubmed.ncbi.nlm.nih.gov/40959932/). *Turkish archives of pediatrics*. [Case Report / Case Series]
Suzuki S (2025). [PMID: 41083377](https://pubmed.ncbi.nlm.nih.gov/41083377/). *The Journal of veterinary medical science*. [Case Report / Case Series]
Goldberg R (2025). [PMID: 40241811](https://pubmed.ncbi.nlm.nih.gov/40241811/). *Case reports in endocrinology*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93160

GARD

Genetic and Rare Diseases Info Center

GARD:16805

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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vitamin D-dependent rickets, type 2

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team