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vitamin D-dependent rickets, type 2B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitamin D-dependent rickets, type 2B

MONDO:0010931

Also known as:hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopeciavitamin D dependent rickets 2bvitamin D receptor signaling defect rickets

Overview

Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.

GeneticsSporadic (not inherited)

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 sometimes findings: Alopecia and Elevated circulating parathyroid hormone level. 19 total HPO annotations.

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

Diagnosis

Biomarker and diagnostic research for vitamin D-dependent rickets, type 2B has been reported in the published literature.

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 2B.

133 publications have been identified in PubMed for vitamin D-dependent rickets, type 2B. Research spans Basic Science / Preclinical (21%), Review / Meta-Analysis (19%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Laboratory research	28	21%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 3:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600785

GARD

Genetic and Rare Diseases Info Center

GARD:18170

Questions for Your Care Team

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Kisho

vitamin D-dependent rickets, type 2B

Overview

Clinical Presentation

Diagnosis

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 2B

Overview

Clinical Presentation

Diagnosis

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