autoinflammation with pulmonary and cutaneous vasculitis
MONDO:0957204Mondo
Findings
No curated finding names autoinflammation with pulmonary and cutaneous vasculitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
10 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Interstitial pneumonitisHPOHP:0006515
- 1 of 1 reported patient
- PetechiaeHPOHP:0000967
- 1 of 1 reported patient
- PurpuraHPOHP:0000979
- 1 of 1 reported patient
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- Restrictive ventilatory defectHPOHP:0002091
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Vasculitis in the skinHPOHP:0200029
- 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.
- HCKHGNC:4840
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of