Features include always present findings: Decreased body weight, Severe short stature, Microcephaly, and Underdeveloped nasal alae and others; and common findings: Steep acetabular roof and Severe failure to thrive. 12 total HPO annotations.

CPAP encodes centrosome assembly and centriole elongation protein (1,338 aa). Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Highest expression in Testis (36.1 TPM) and Thyroid (26.9 TPM).

Seckel syndrome 4 is associated with mutations in the CPAP gene on chromosome 13.

The CPAP protein participates in TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain pathway.

CPAP is classified as a druggable target with score 0.0.

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

Phenotype severity distribution: 8 always present features, 2 common features.

No clinical trials have been registered for Seckel syndrome 4.

4 publications have been identified in PubMed for Seckel syndrome 4. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Hudson JJR (2025). [PMID: 40903580](https://pubmed.ncbi.nlm.nih.gov/40903580/). *Nature*. [Basic Science / Preclinical]

• Biven E (2025). [PMID: 41167311](https://pubmed.ncbi.nlm.nih.gov/41167311/). *J Biol Chem*. [Review / Meta-Analysis]

• Jurca AD (2024). [PMID: 39597091](https://pubmed.ncbi.nlm.nih.gov/39597091/). *Medicina (Kaunas)*. [Case Report / Case Series]