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orofacial cleft 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofacial cleft 10

MONDO:0013378

Also known as:SUMO1 orofacial cleftorofacial cleft 10, isolated casesorofacial cleft caused by mutation in SUMO1

Overview

Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.

GeneticsSporadic (not inherited) · SUMO1 (chr 2)

Clinical Presentation

Features include always present findings: Unilateral cleft palate and Unilateral cleft lip.

Organ System	Phenotype Count	Example Features
Head and neck	2	Unilateral cleft palate, Unilateral cleft lip

Explore clinical features

Genetic Landscape

SUMO1 function has not been fully characterized.

Orofacial cleft 10 is associated with mutations in the SUMO1 gene on chromosome 2.

Diagnosis

Genetic testing for SUMO1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for orofacial cleft 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 orofacial cleft 10.

108 publications have been identified in PubMed for orofacial cleft 10. Research spans Epidemiology / Natural History (46%), Basic Science / Preclinical (17%), and Gene Therapy / Novel Therapeutics (15%).

Research Type	Count	% of Total
Disease patterns and progression	50	46%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613705

GARD

Genetic and Rare Diseases Info Center

GARD:18306

Questions for Your Care Team

→Should I pursue genetic testing for SUMO1, 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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orofacial cleft 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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