systemic lupus erythematosus
Findings
No curated finding names systemic lupus erythematosus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.
Definition from the Mondo Disease Ontology (MONDO:0007915), read 2026-09-29. CC BY 4.0.
Features
46 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.
- AnorexiaHPOHP:0002039
- Very frequent (80% to 99% of cases)
- Antinuclear antibody positivityHPOHP:0003493
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- MalaiseHPOHP:0033834
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- Malar rashHPOHP:0025300
- 44 of 57 reported patients
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- 18 of 57 reported patients
- Frequent (30% to 79% of cases)
- Anti-complement component C1q antibody positivityHPOHP:0034077
- Frequent (30% to 79% of cases)
- Anti-ribosome Po antibody positivityHPOHP:0034076
- Frequent (30% to 79% of cases)
- Anti-titin antibody positivityHPOHP:5000038
- Frequent (30% to 79% of cases)
Show the remaining 34
- Antineutrophil antibody positivityHPOHP:0003453
- Frequent (30% to 79% of cases)
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- Decreased circulating complement C3 concentrationHPOHP:0005421
- Frequent (30% to 79% of cases)
- Decreased circulating complement C4 concentrationHPOHP:0045042
- Frequent (30% to 79% of cases)
- Decreased total leukocyte countHPOHP:0001882
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
Genes
35 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.
- PRKCDHGNC:9399
- Definitive · ClinGen · Autosomal recessive · 2024
- SAT1HGNC:10540
- Strong · PanelApp Australia · X-linked · 2025
- TREX1HGNC:12269
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Unknown · 2025
- P2RY8HGNC:15524
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- UNC93B1HGNC:13481
- Moderate · ClinGen · Semidominant · 2025
Where it sits
- Narrower terms (12)
- autosomal systemic lupus erythematosus type 16
- bullous systemic lupus erythematosus
- central nervous system lupus
- neonatal lupus erythematosus
- pediatric systemic lupus erythematosus
- systemic lupus erythematosus 17
- systemic lupus erythematosus 18
- systemic lupus erythematosus related to C1QA
- systemic lupus erythematosus related to C1QB
- systemic lupus erythematosus related to C1QC
- systemic lupus erythematosus related to C1S
- systemic lupus erythematosus related to C4A
Other names
7 names
Resolves to: systemic lupus erythematosus
- Also called
- disseminated lupus erythematosusLupuslupus erythematosus, systemicSLESLE - lupus erythematosus, systemicsystemic lupus erythematosus (disease)systemic lupus erythematosus susceptibility to