Features include always present findings: Anteverted nares, Profound intellectual disability, Elevated erythrocyte AICA-ribotide concentration, and Low muscle tone (hypotonia) and others; and very common findings: Seizure, Fused labia minora, Prominent forehead, and Thin upper lip vermilion and others. 24 total HPO annotations.

ATIC encodes 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (592 aa). Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis. Highest expression in Cells EBV-transformed lymphocytes (154.0 TPM) and Cells Cultured fibroblasts (101.0 TPM).

AICA-ribosiduria is associated with mutations in the ATIC gene on chromosome 2.

The ATIC protein participates in ATIC(1-230)-ALK(1059-1620) fusion, ATIC(1-229)-ALK(1058-1620) fusion, and ATIC(1-230)-p-7Y-ALK(1059-1620) fusion pathways.

ATIC is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 1.6.

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

Phenotype severity distribution: 13 always present features, 10 very common features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for AICA-ribosiduria. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Shi Y (2025). [PMID: 40217360](https://pubmed.ncbi.nlm.nih.gov/40217360/). *Acta epileptologica*. [Review / Meta-Analysis]

• Weng WC (2025). [PMID: 39604553](https://pubmed.ncbi.nlm.nih.gov/39604553/). *European journal of human genetics : EJHG*. [Case Report / Case Series]

• Peng Z (2025). [PMID: 40623538](https://pubmed.ncbi.nlm.nih.gov/40623538/). *Free radical biology &amp; medicine*. [Basic Science / Preclinical]

• Shi X (2024). [PMID: 39129491](https://pubmed.ncbi.nlm.nih.gov/39129491/). *American journal of physiology. Cell physiology*. [Basic Science / Preclinical]