Features include always present findings: Nyctalopia and Macrocephaly; and very common findings: Downslanted palpebral fissures, Macrotia, Low-set ears, and Brachydactyly and others. 46 total HPO annotations.

CWC27 encodes CWC27 spliceosome associated cyclophilin (472 aa). As part of the spliceosome, plays a role in pre-mRNA splicing. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity. Highest expression in Cells EBV-transformed lymphocytes (32.7 TPM) and Cells Cultured fibroblasts (30.0 TPM).

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome is caused by mutations in the CWC27 gene on chromosome 5.

CWC27 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for CWC27 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for metaphyseal chondrodysplasia-retinitis pigmentosa syndrome has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 8 very common features, 6 common features.

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

No clinical trials have been registered for metaphyseal chondrodysplasia-retinitis pigmentosa syndrome.

161 publications have been identified in PubMed for metaphyseal chondrodysplasia-retinitis pigmentosa syndrome. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (16%).