systemic lupus erythematosus 18
MONDO:1060185Mondo
Findings
No curated finding names systemic lupus erythematosus 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
58 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.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- AlopeciaHPOHP:0001596
- 2 of 2 reported patients
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Anti-dsDNA antibody positivityHPOHP:0020151
- 3 of 3 reported patients
- Anti-myeloperoxidase antibody positivityHPOHP:0033559
- 1 of 1 reported patient
- Anti-Sm antibody positivityHPOHP:0033040
- 1 of 1 reported patient
- Anticardiolipin IgG antibody positivityHPOHP:0020136
- 1 of 1 reported patient
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 1 reported patient
- ArthritisHPOHP:0001369
- 1 of 1 reported patient
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
Show the remaining 46
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 2 of 2 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Elevated circulating creatinine concentrationHPOHP:0003259
- 3 of 3 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- Facial erythemaHPOHP:0001041
- 1 of 1 reported patient
Genes
1 gene
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.
- PLD4HGNC:23792
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: systemic lupus erythematosus 18
- Also called
- SLEB18systemic lupus erythematosus related to PLD4