CHAMP1 encodes chromosome alignment maintaining phosphoprotein 1 (812 aa). Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Highest expression in Cells Cultured fibroblasts (41.1 TPM) and Cells EBV-transformed lymphocytes (39.2 TPM).

Intellectual disability, autosomal dominant 40 is associated with mutations in the CHAMP1 gene on chromosome 13.

CHAMP1 is classified as a druggable target with score 0.0.

Genetic testing for CHAMP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 40 has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 6 very common features, 19 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 40.

13 publications have been identified in PubMed for intellectual disability, autosomal dominant 40. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (23%).

Recent Publications

• da Costa Urbano JC (2026). [PMID: 42050746](https://pubmed.ncbi.nlm.nih.gov/42050746/). *Am J Med Genet A*. [Case Report / Case Series]

• Cipri S (2026). [PMID: 41700448](https://pubmed.ncbi.nlm.nih.gov/41700448/). *American journal of medical genetics. Part A*. [Diagnostic / Biomarker]

• van der Leij M (2026). [PMID: 41680088](https://pubmed.ncbi.nlm.nih.gov/41680088/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Guo W (2026). [PMID: 41810193](https://pubmed.ncbi.nlm.nih.gov/41810193/). *Translational pediatrics*. [Basic Science / Preclinical]

• Russell JK (2026). [PMID: 41709686](https://pubmed.ncbi.nlm.nih.gov/41709686/). *Current opinion in neurology*. [Review / Meta-Analysis]

• Celik VD (2026). [PMID: 41940405](https://pubmed.ncbi.nlm.nih.gov/41940405/). *Mol Syndromol*. [Clinical Trial Publication]

• Videla L (2025). [PMID: 40528282](https://pubmed.ncbi.nlm.nih.gov/40528282/). *Alzheimer's & dementia : the journal of the Alzheimer's Association*. [Review / Meta-Analysis]

• Rafii MS (2025). [PMID: 40818475](https://pubmed.ncbi.nlm.nih.gov/40818475/). *The Lancet. Neurology*. [Review / Meta-Analysis]

• Moses RG (2025). [PMID: 40519070](https://pubmed.ncbi.nlm.nih.gov/40519070/). *American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics*. [Basic Science / Preclinical]

• Roberts JP (2025). [PMID: 40061310](https://pubmed.ncbi.nlm.nih.gov/40061310/). *medRxiv : the preprint server for health sciences*. [Epidemiology / Natural History]