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vitamin D-dependent rickets, type 3 (VDDR3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitamin D-dependent rickets, type 3

MONDO:0033640

Also known as:VDDR3

Overview

GeneticsAutosomal dominant · CYP3A4 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Flared metaphysis, Metaphyseal cupping, Low serum calcitriol, and Decreased circulating calcifediol concentration; and common findings: Delayed ability to walk. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating parathyroid hormone level, Elevated circulating alkaline phosphatase concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CYP3A4 encodes cytochrome P450 family 3 subfamily A member 4 (503 aa). A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids. Highest expression in Liver (335.3 TPM) and Small Intestine Terminal Ileum (48.2 TPM).

Vitamin D-dependent rickets, type 3 is associated with mutations in the CYP3A4 gene on chromosome 7.

The CYP3A4 protein participates in CYP3A4 can N-demethylate loperamide, CYP3A4 oxidizes PREDN,PREDL, and CYP3A4 monooxygenates ATV to 2-OH-ATV pathways.

CYP3A4 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 0.1.

Diagnosis

Genetic testing for CYP3A4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 1 common feature.

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.

No clinical trials have been registered for vitamin D-dependent rickets, type 3.

15 publications have been identified in PubMed for vitamin D-dependent rickets, type 3. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	6	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619073

GARD

Genetic and Rare Diseases Info Center

GARD:18171

Questions for Your Care Team

→Should I pursue genetic testing for CYP3A4, and what would the results mean for my family?
→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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Kisho

vitamin D-dependent rickets, type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

vitamin D-dependent rickets, type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications