autosomal systemic lupus erythematosus type 16
Findings
No curated finding names autosomal systemic lupus erythematosus type 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.
Definition from the Mondo Disease Ontology (MONDO:0013743), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Antinuclear antibody positivityHPOHP:0003493
- 17 of 17 reported patients
- Decreased circulating complement C3 concentrationHPOHP:0005421
- 17 of 17 reported patients
- Decreased circulating complement C4 concentrationHPOHP:0045042
- 17 of 17 reported patients
- Systemic lupus erythematosusHPOHP:0002725
- 17 of 17 reported patients
- Anti-dsDNA antibody positivityHPOHP:0020151
- 16 of 17 reported patients
- Lupus nephritisHPOHP:0033726
- 11 of 17 reported patients
- Perinuclear antineutrophil antibody positivity
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNASE1L3HGNC:2959
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- C1RHGNC:1246
- Supportive · Orphanet · Autosomal dominant · 2021
- DNASE1HGNC:2956
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: autosomal systemic lupus erythematosus type 16
- Also called
- SLEB16systemic lupus erythematosus 16systemic lupus erythematosus related to DNASE1L3systemic lupus erythematosus type 16