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orofacial cleft 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofacial cleft 5

MONDO:0012142

Also known as:MSX1 orofacial cleftorofacial cleft caused by mutation in MSX1orofacial cleft type 5

Overview

Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.

GeneticsAutosomal dominant · MSX1 (chr 4)

OnsetCONGENITAL

Clinical Presentation

Features include: Cleft palate and Cleft upper lip.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Cleft upper lip

Age of onset: at birth.

Explore clinical features

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.

MSX1 encodes msh homeobox 1 (303 aa). Acts as a transcriptional repressor. Capable of transcription autoinactivation. Highest expression in Cervix Endocervix (129.5 TPM) and Cervix Ectocervix (81.9 TPM).

Orofacial cleft 5 is associated with mutations in the MSX1 gene on chromosome 4.

The MSX1 protein participates in Expression of MSX1 in the neural plate border, Expression of TFAP2A in the neural plate border, and Specification of the neural plate border pathways.

MSX1 is classified as a druggable target (Transcription Factor Complex category) with score 0.0.

Diagnosis

Genetic testing for MSX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for orofacial cleft 5 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 orofacial cleft 5.

34 publications have been identified in PubMed for orofacial cleft 5. Research spans Basic Science / Preclinical (26%), Epidemiology / Natural History (26%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Laboratory research	9	26%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608874

GARD

Genetic and Rare Diseases Info Center

GARD:18305

Questions for Your Care Team

→Should I pursue genetic testing for MSX1, 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 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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