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).

Intellectual disability, X-linked, with or without seizures, ARX-related 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.

Biomarker and diagnostic research for intellectual disability, X-linked, with or without seizures, ARX-related has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 2 common features.

No clinical trials have been registered for intellectual disability, X-linked, with or without seizures, ARX-related.

229 publications have been identified in PubMed for intellectual disability, X-linked, with or without seizures, ARX-related. Kisho has analyzed 156 by research type. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (12%).

Recent Publications

• Li Y (2026). [PMID: 40683950](https://pubmed.ncbi.nlm.nih.gov/40683950/). *Cell Death Differ*. [Basic Science / Preclinical]

• Pichon E (2026). [PMID: 41025404](https://pubmed.ncbi.nlm.nih.gov/41025404/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]

• Bruschi F (2026). [PMID: 41144879](https://pubmed.ncbi.nlm.nih.gov/41144879/). *Mov Disord*. [Basic Science / Preclinical]

• Wright MA (2026). [PMID: 40696909](https://pubmed.ncbi.nlm.nih.gov/40696909/). *J Child Neurol*. [Review / Meta-Analysis]

• Pierpont EI (2026). [PMID: 40988568](https://pubmed.ncbi.nlm.nih.gov/40988568/). *Brain*. [Epidemiology / Natural History]

• Miller JS (2026). [PMID: 41260060](https://pubmed.ncbi.nlm.nih.gov/41260060/). *Pediatr Neurol*. [Epidemiology / Natural History]

• Marten LM (2026). [PMID: 41177236](https://pubmed.ncbi.nlm.nih.gov/41177236/). *Free Radic Biol Med*. [Basic Science / Preclinical]

• Boelaert K (2026). [PMID: 41508830](https://pubmed.ncbi.nlm.nih.gov/41508830/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]

• Muenzer J (2026). [PMID: 41467650](https://pubmed.ncbi.nlm.nih.gov/41467650/). *N Engl J Med*. [Clinical Trial Publication]

• Li J (2026). [PMID: 41986485](https://pubmed.ncbi.nlm.nih.gov/41986485/). *Eur J Pediatr*. [Epidemiology / Natural History]