autoinflammatory disease, systemic, with vasculitis
MONDO:0957271Mondo
Findings
No curated finding names autoinflammatory disease, systemic, with vasculitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
55 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 painHPOHP:0002027
- 3 of 3 reported patients
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Anti-Sm antibody positivityHPOHP:0033040
- 1 of 1 reported patient
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- 1 of 1 reported patient
- Antimitochondrial antibody positivityHPOHP:0030167
- 1 of 1 reported patient
- ArthralgiaHPOHP:0002829
- 2 of 2 reported patients
- ArthritisHPOHP:0001369
- 1 of 1 reported patient
- Ascending tubular aorta aneurysmHPOHP:0004970
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Atopic dermatitisHPOHP:0001047
- 1 of 1 reported patient
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 1 of 1 reported patient
Show the remaining 43
- ColitisHPOHP:0002583
- 2 of 2 reported patients
- Congenital hydroceleHPOHP:4000037
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- ConjunctivitisHPOHP:0000509
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 2 reported patients
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.
- LYNHGNC:6735
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023