Details of Disease

General Information of Disease (ID: DISP9B0B)

• Disease Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
• Synonyms: osteomyelitis, STERILE multifocal, with periostitis and pustulosis; Interleukin 1 receptor antagonist deficiency; deficiency of interleukin-1 receptor antagonist; OMPP; autoinflammatory disease due to interleukin-1 receptor antagonist deficiency; Interleukin-1 receptor antagonist deficiency; deficiency of the Interleukin-1 receptor antagonist; DIRA
• 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.
• Disease Hierarchy:
  DIST1OU2: Chronic recurrent multifocal osteomyelitis
  DISP9B0B: Sterile multifocal osteomyelitis with periostitis and pustulosis
• Disease Identifiers:
  MONDO ID: MONDO_0013021
  MESH ID: C557815
  UMLS CUI: C2748507
  OMIM ID: 612852
  MedGen ID: 411230
  Orphanet ID: 210115
  SNOMED CT ID: 773702002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL1RN	TT6GSR3	Strong	Autosomal recessive	[1]
IL1RN	TT6GSR3	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL1RN	OT308CBE	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.J Clin Immunol. 2017 Jul;37(5):445-451. doi: 10.1007/s10875-017-0399-1. Epub 2017 May 15.