ARX encodes aristaless related homeobox (562 aa). Transcription factor. Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C. Positively modulates transcription of KDM5C. Highest expression in Ovary (139.1 TPM) and Brain Anterior cingulate cortex BA24 (11.7 TPM).

Corpus callosum agenesis-abnormal genitalia syndrome is associated with mutations in the ARX gene on chromosome X.

The ARX protein participates in SLIT2 gene expression is stimulated by ISL1 and Primary multipotent pancreatic progenitor cell produces trunk bipotent pancreatic progenitor cell pathways.

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

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

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for corpus callosum agenesis-abnormal genitalia syndrome.

203 publications have been identified in PubMed for corpus callosum agenesis-abnormal genitalia syndrome. Kisho has analyzed 143 by research type. Research spans Basic Science / Preclinical (41%), Review / Meta-Analysis (36%), and Clinical Trial Publication (6%).

Recent Publications

• Wei B (2026). [PMID: 41782252](https://pubmed.ncbi.nlm.nih.gov/41782252/). *Ophthalmic Genet*. [Basic Science / Preclinical]

• Valdes-Socin H (2026). [PMID: 41485595](https://pubmed.ncbi.nlm.nih.gov/41485595/). *Ann Endocrinol (Paris)*. [Review / Meta-Analysis]

• Zhou 周长银 C (2026). [PMID: 41824582](https://pubmed.ncbi.nlm.nih.gov/41824582/). *Sci Adv*. [Basic Science / Preclinical]

• Dikov D (2026). [PMID: 41800508](https://pubmed.ncbi.nlm.nih.gov/41800508/). *Can J Urol*. [Basic Science / Preclinical]

• Song J (2026). [PMID: 40865634](https://pubmed.ncbi.nlm.nih.gov/40865634/). *J Adv Res*. [Basic Science / Preclinical]

• Hiratsuka D (2026). [PMID: 41577072](https://pubmed.ncbi.nlm.nih.gov/41577072/). *Fertil Steril*. [Review / Meta-Analysis]

• Chi H (2026). [PMID: 41486686](https://pubmed.ncbi.nlm.nih.gov/41486686/). *Gynecol Endocrinol*. [Review / Meta-Analysis]

• Shan H (2026). [PMID: 41565656](https://pubmed.ncbi.nlm.nih.gov/41565656/). *Nat Commun*. [Basic Science / Preclinical]

• Shen H (2026). [PMID: 41711693](https://pubmed.ncbi.nlm.nih.gov/41711693/). *Food Funct*. [Review / Meta-Analysis]

• Zhang Y (2026). [PMID: 41543032](https://pubmed.ncbi.nlm.nih.gov/41543032/). *J Endocrinol*. [Basic Science / Preclinical]