Features include always present findings: Microtia; and common findings: Overfolded helix, Vesicoureteral reflux, Anal atresia, and Bifid uterus and others. 11 total HPO annotations.

DACT1 encodes dishevelled binding antagonist of beta catenin 1 (836 aa). Involved in regulation of intracellular signaling pathways during development. Highest expression in Artery Aorta (39.4 TPM) and Nerve Tibial (38.2 TPM).

Townes-Brocks syndrome 2 is associated with mutations in the DACT1 gene on chromosome 14.

The DACT1 protein participates in Degradation of DVL pathway.

DACT1 is classified as a druggable target with score 0.0.

Genetic testing for DACT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Townes-Brocks syndrome 2 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 7 common features.

No clinical trials have been registered for Townes-Brocks syndrome 2.

7 publications have been identified in PubMed for Townes-Brocks syndrome 2. Research spans Case Report / Case Series (86%) and Diagnostic / Biomarker (14%).

Recent Publications

• Tsunoda S (2026). [PMID: 42027198](https://pubmed.ncbi.nlm.nih.gov/42027198/). *Kidney Med*. [Case Report / Case Series]

• Asagai Y (2025). [PMID: 40658219](https://pubmed.ncbi.nlm.nih.gov/40658219/). *Pediatric nephrology (Berlin, Germany)*. [Diagnostic / Biomarker]

• Paripović A (2025). [PMID: 42148001](https://pubmed.ncbi.nlm.nih.gov/42148001/). *Balkan J Med Genet*. [Case Report / Case Series]

• Liang R (2025). [PMID: 39910415](https://pubmed.ncbi.nlm.nih.gov/39910415/). *BMC pediatrics*. [Case Report / Case Series]

• Ilhan O (2024). [PMID: 38721582](https://pubmed.ncbi.nlm.nih.gov/38721582/). *Journal of pediatric genetics*. [Case Report / Case Series]

• Liu X (2024). [PMID: 38584358](https://pubmed.ncbi.nlm.nih.gov/38584358/). *Nephrology (Carlton, Vic.)*. [Case Report / Case Series]