Features include always present findings: Anemia of inadequate production and Failure to thrive; and very common findings: Asthma and Exocrine pancreatic insufficiency. 16 total HPO annotations.

COX4I2 encodes cytochrome c oxidase subunit 4I2 (171 aa). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. Highest expression in Lung (78.7 TPM) and Thyroid (28.1 TPM).

Pancreatic insufficiency-anemia-hyperostosis syndrome is associated with mutations in the COX4I2 gene on chromosome 20.

The COX4I2 protein participates in TIMM21 carries COX4, COX5A, COX6C to MT-CO1:MITRAC pathway.

COX4I2 is classified as a druggable target (Enzyme and Transporter categories) with score 0.0.

Genetic testing for COX4I2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pancreatic insufficiency-anemia-hyperostosis syndrome has been reported in the published literature.

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

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

No clinical trials have been registered for pancreatic insufficiency-anemia-hyperostosis syndrome.

212 publications have been identified in PubMed for pancreatic insufficiency-anemia-hyperostosis syndrome. Research spans Review / Meta-Analysis (37%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (11%).