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orofacial cleft 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofacial cleft 11

MONDO:0010906

Also known as:BMP4 orofacial cleftorofacial cleft caused by mutation in BMP4orofacial cleft type 11

Overview

Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.

GeneticsPolygenic (multifactorial) · BMP4 (chr 14)

Clinical Presentation

Features include: Cleft palate and Cleft lip.

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

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.

BMP4 encodes bone morphogenetic protein 4 (408 aa). Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis. Highest expression in Vagina (25.9 TPM) and Bladder (23.4 TPM).

Orofacial cleft 11 is associated with mutations in the BMP4 gene on chromosome 14.

BMP4 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for BMP4 is available. Testing is considered confirmatory for diagnosis.

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 11.

75 publications have been identified in PubMed for orofacial cleft 11. Research spans Epidemiology / Natural History (44%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Disease patterns and progression	33	44%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600625

GARD

Genetic and Rare Diseases Info Center

GARD:18303

Questions for Your Care Team

→Should I pursue genetic testing for BMP4, 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 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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