KDM5C encodes lysine demethylase 5C (1,560 aa). Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Highest expression in Ovary (77.2 TPM) and Uterus (76.8 TPM).

Syndromic X-linked intellectual disability Claes-Jensen type is associated with mutations in the KDM5C gene on chromosome X.

The KDM5C protein participates in NFE2L2-dependent IDH1 gene expression pathway.

KDM5C is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 2.9.

Genetic testing for KDM5C is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 13 always present features, 6 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for syndromic X-linked intellectual disability Claes-Jensen type.

2 publications have been identified in PubMed for syndromic X-linked intellectual disability Claes-Jensen type. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Ghasemi MR (2025). [PMID: 39835750](https://pubmed.ncbi.nlm.nih.gov/39835750/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]

• Meng Y (2025). [PMID: 39948613](https://pubmed.ncbi.nlm.nih.gov/39948613/). *Ital J Pediatr*. [Basic Science / Preclinical]