Features include always present findings: Pulmonary hypoplasia, Talipes equinovarus, Cystic liver disease, and Liver scarring (fibrosis) (hepatic fibrosis) and others; and very common findings: Postaxial hand polydactyly. 19 total HPO annotations.

CC2D2A encodes coiled-coil and C2 domain containing 2A (1,620 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Highest expression in Artery Tibial (16.4 TPM) and Colon Sigmoid (15.6 TPM).

Meckel syndrome, type 6 is associated with mutations in the CC2D2A gene on chromosome 4.

The CC2D2A protein participates in Anchoring of the basal body to the plasma membrane pathway.

CC2D2A is classified as a druggable target with score 0.0.

Genetic testing for CC2D2A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for Meckel syndrome, type 6.

7 publications have been identified in PubMed for Meckel syndrome, type 6. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).

Recent Publications

• Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]

• Lo Giudice M (2025). [PMID: 40565597](https://pubmed.ncbi.nlm.nih.gov/40565597/). *Genes (Basel)*. [Case Report / Case Series]

• Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]

• Yao Y (2025). [PMID: 40235744](https://pubmed.ncbi.nlm.nih.gov/40235744/). *Quant Imaging Med Surg*. [Case Report / Case Series]

• Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes (Basel)*. [Review / Meta-Analysis]