sterile multifocal osteomyelitis with periostitis and pustulosis
Findings
No curated finding names sterile multifocal osteomyelitis with periostitis and pustulosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.
Definition from the Mondo Disease Ontology (MONDO:0013021), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
22 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.
- AbscessHPOHP:0025615
- 2 of 2 reported patients
- Broad ribsHPOHP:0000885
- 9 of 9 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 4 of 4 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 3 of 3 reported patients
- Epidermal acanthosisHPOHP:0025092
- 3 of 3 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 2 of 2 reported patients
- Flaring of rib cageHPO
Show the remaining 10
- OsteopeniaHPOHP:0000938
- 1 of 1 reported patient
- PustuleHPOHP:0200039
- 9 of 9 reported patients · Neonatal onset
- 1 of 1 reported patient · Neonatal onset
- 2 of 2 reported patients · Neonatal onset
- 1 of 1 reported patient
- Skin rashHPOHP:0000988
- 1 of 1 reported patient
- OsteolysisHPOHP:0002797
- 11 of 12 reported patients
- Fetal distressHPOHP:0025116
- 5 of 9 reported patients · Fetal onset
- Fused cervical vertebraeHPOHP:0002949
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.
- IL1RNHGNC:6000
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: sterile multifocal osteomyelitis with periostitis and pustulosis
- Also called
- autoinflammatory disease due to interleukin-1 receptor antagonist deficiencydeficiency of the Interleukin-1 receptor antagonistDIRAInterleukin-1 receptor antagonist deficiencyOMPP