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branchiootorenal syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

branchiootorenal syndrome 2

MONDO:0012575

Also known as:SIX5 branchio-oto-renal syndromebranchio-oto-renal syndrome caused by mutation in SIX5branchiootorenal syndrome type 2

Overview

Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.

GeneticsAutosomal dominant · SIX5 (chr 19)

ResearchLimited published research (8 articles)

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: Renal dysplasia, Preauricular skin tag, Hearing loss (hearing impairment), and Hemifacial hypoplasia and 1 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Renal dysplasia, Reduced kidney function (renal insufficiency)

Genetic Landscape

SIX5 function has not been fully characterized.

Branchiootorenal syndrome 2 is associated with mutations in the SIX5 gene on chromosome 19.

Diagnosis

Genetic testing for SIX5 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 branchiootorenal syndrome 2.

8 publications have been identified in PubMed for branchiootorenal syndrome 2. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Review / Meta-Analysis (13%).

Recent Publications

Khan S (2026). [PMID: 41675802](https://pubmed.ncbi.nlm.nih.gov/41675802/). *Ann Med Surg (Lond)*. [Case Report / Case Series]
Goto SI (2026). [PMID: 41842599](https://pubmed.ncbi.nlm.nih.gov/41842599/). *Acta Otolaryngol*. [Epidemiology / Natural History]
Chen S (2025). [PMID: 41069697](https://pubmed.ncbi.nlm.nih.gov/41069697/). *J Otol*. [Case Report / Case Series]
Chen Y (2025). [PMID: 40850800](https://pubmed.ncbi.nlm.nih.gov/40850800/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Basic Science / Preclinical]
Yuan YY (2025). [PMID: 40010783](https://pubmed.ncbi.nlm.nih.gov/40010783/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610896

GARD

Genetic and Rare Diseases Info Center

GARD:15503

Questions for Your Care Team

→Should I pursue genetic testing for SIX5, 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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branchiootorenal syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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