Features include always present findings: Sloping forehead, Cerebellar hypoplasia, and Primary microcephaly; and common findings: Hypoplasia of the brainstem. 13 total HPO annotations.

COASY encodes Coenzyme A synthase (564 aa). Bifunctional enzyme that catalyzes the fourth step of the coenzyme A biosynthetic pathway, the adenylation of 4'-phosphopantetheine, and the fifth step, the phosphorylation of dephospho-CoA to CoA Highest expression in Thyroid (84.3 TPM) and Adrenal Gland (78.3 TPM).

Pontocerebellar hypoplasia, type 12 is associated with mutations in the COASY gene on chromosome 17.

The COASY protein participates in COASY transfers an adenylyl group from ATP to PPANT pathway.

COASY is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

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

Biomarker and diagnostic research for pontocerebellar hypoplasia, type 12 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 common feature.

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

No clinical trials have been registered for pontocerebellar hypoplasia, type 12.

4 publications have been identified in PubMed for pontocerebellar hypoplasia, type 12. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Stander Z (2026). [PMID: 42029543](https://pubmed.ncbi.nlm.nih.gov/42029543/). *Int J Neonatal Screen*. [Diagnostic / Biomarker]

• Sen MK (2025). [PMID: 40735110](https://pubmed.ncbi.nlm.nih.gov/40735110/). *Frontiers in cellular neuroscience*. [Review / Meta-Analysis]

• Cavestro C (2024). [PMID: 39301217](https://pubmed.ncbi.nlm.nih.gov/39301217/). *Frontiers in cellular neuroscience*. [Basic Science / Preclinical]

• Cavestro C (2024). [PMID: 38750253](https://pubmed.ncbi.nlm.nih.gov/38750253/). *Annals of clinical and translational neurology*. [Review / Meta-Analysis]