ATAD3A encodes ATPase family AAA domain containing 3A (586 aa). Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. Highest expression in Cells EBV-transformed lymphocytes (34.4 TPM) and Cells Cultured fibroblasts (32.1 TPM).

Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal is associated with mutations in the ATAD3A gene on chromosome 1.

ATAD3A is classified as a druggable target with score 0.0.

Genetic testing for ATAD3A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature, 8 common features.

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

No clinical trials have been registered for pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal.

4 publications have been identified in PubMed for pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Gülbahçe A (2026). [PMID: 42199495](https://pubmed.ncbi.nlm.nih.gov/42199495/). *Mol Syndromol*. [Case Report / Case Series]

• Messina M (2025). [PMID: 38872485](https://pubmed.ncbi.nlm.nih.gov/38872485/). *J Inherit Metab Dis*. [Review / Meta-Analysis]

• Brügel M (2024). [PMID: 39605788](https://pubmed.ncbi.nlm.nih.gov/39605788/). *Front Neurosci*. [Review / Meta-Analysis]

• Alayoubi AM (2024). [PMID: 39455833](https://pubmed.ncbi.nlm.nih.gov/39455833/). *Sci Rep*. [Case Report / Case Series]