Features include always present findings: Decreased circulating complement C3 concentration, Antinuclear antibody positivity, Systemic lupus erythematosus, and Decreased circulating complement C4 concentration; and very common findings: Anti-dsDNA antibody positivity. 7 total HPO annotations.

DNASE1L3 encodes deoxyribonuclease 1L3 (305 aa). Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends. Highest expression in Spleen (106.0 TPM) and Kidney Medulla (29.1 TPM).

Autosomal systemic lupus erythematosus type 16 is caused by mutations in the DNASE1L3 gene on chromosome 3.

DNASE1L3 is classified as a druggable target (Druggable Genome category) with score 8.7.

Genetic testing for DNASE1L3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal systemic lupus erythematosus type 16 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 very common feature, 2 common features.

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

No clinical trials have been registered for autosomal systemic lupus erythematosus type 16.

213 publications have been identified in PubMed for autosomal systemic lupus erythematosus type 16. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (20%).