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orofaciodigital syndrome XV (OFD15) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome XV

MONDO:0014932

Also known as:OFD15orofaciodigital syndrome type XVOfds 15

Overview

GeneticsAutosomal recessive · KIAA0753 (chr 17)

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: Cerebellar vermis hypoplasia, Wide nasal bridge, Anteverted nares, and Postaxial hand polydactyly and others.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Postaxial hand polydactyly

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.

KIAA0753 encodes KIAA0753 (967 aa). Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2. Highest expression in Esophagus Muscularis (26.9 TPM) and Testis (24.8 TPM).

Orofaciodigital syndrome XV is associated with mutations in the KIAA0753 gene on chromosome 17.

KIAA0753 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIAA0753 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 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 orofaciodigital syndrome XV.

10 publications have been identified in PubMed for orofaciodigital syndrome XV. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (40%), and Clinical Trial Publication (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617127

GARD

Genetic and Rare Diseases Info Center

GARD:16197

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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orofaciodigital syndrome XV

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

orofaciodigital syndrome XV

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