Features include always present findings: Elevated platelet count (thrombocytosis), Quotidian fever, Periodic fever, and Elevated white blood cell count (increased total leukocyte count); and common findings: Antinuclear antibody positivity. 6 total HPO annotations.

LACC1 encodes laccase domain containing 1 (430 aa). Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthine. Highest expression in Brain Spinal cord cervical c-1 (14.4 TPM) and Brain Substantia nigra (12.1 TPM).

Juvenile arthritis due to defect in LACC1 is associated with mutations in the LACC1 gene on chromosome 13.

LACC1 is classified as a druggable target with score 0.0.

Genetic testing for LACC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for juvenile arthritis due to defect in LACC1 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 common feature.

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

110 publications have been identified in PubMed for juvenile arthritis due to defect in LACC1. Research spans Epidemiology / Natural History (37%), Review / Meta-Analysis (20%), and Clinical Trial Publication (15%).