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vitamin D-dependent rickets, type 1A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitamin D-dependent rickets, type 1A

MONDO:0020723

Also known as:vitamin D-dependent rickets, type I1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective1-Alpha-Hydroxylase deficiency

Overview

GeneticsAutosomal recessive · CYP27B1 (chr 12)

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: Delayed eruption of teeth, Elevated circulating alkaline phosphatase concentration, Renal phosphate wasting, and Postnatal growth retardation and others. 52 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Femoral bowing, Subperiosteal bone resorption, Sparse bone trabeculae

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.

CYP27B1 encodes cytochrome P450 family 27 subfamily B member 1 (508 aa). A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Highest expression in Kidney Cortex (11.9 TPM) and Thyroid (6.4 TPM).

Vitamin D-dependent rickets, type 1A is associated with mutations in the CYP27B1 gene on chromosome 12.

The CYP27B1 protein participates in CYP27B1 D320Tfs*32, Defective CYP27B1 causes VDDR1A, and Defective CYP27B1 causes VDDR1B pathways.

CYP27B1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 8.0.

Diagnosis

Genetic testing for CYP27B1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present features.

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 1A.

12 publications have been identified in PubMed for vitamin D-dependent rickets, type 1A. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	5	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:264700

GARD

Genetic and Rare Diseases Info Center

GARD:18636

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 1A

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 1A

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