hypocomplementemic urticarial vasculitis
Findings
No curated finding names hypocomplementemic urticarial vasculitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.
Definition from the Mondo Disease Ontology (MONDO:0018227), read 2026-09-29. CC BY 4.0.
Features
47 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.
- PruritusHPOHP:0000989
- Very frequent (80% to 99% of cases)
- Reduced circulating complement concentrationHPOHP:0004431
- Very frequent (80% to 99% of cases)
- Skin rashHPOHP:0000988
- Very frequent (80% to 99% of cases)
- Small vessel vasculitisHPOHP:0011944
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- AngioedemaHPOHP:0100665
- Frequent (30% to 79% of cases)
- Arthritis
Show the remaining 35
- GlomerulopathyHPOHP:0100820
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- HemoptysisHPOHP:0002105
- Frequent (30% to 79% of cases)
- Inflammatory abnormality of the eyeHPOHP:0100533
- Frequent (30% to 79% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
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.
- DNASE1L3HGNC:2959
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hypocomplementemic urticarial vasculitis
- Also called
- anti-C1q vasculitisMac Duffie hypocomplementemic urticarial vasculitisMac Duffie syndromeMcDuffie hypocomplementemic urticarial vasculitisMcDuffie syndrome