Details of Disease

General Information of Disease (ID: DIST1OU2)

• Disease Name: Chronic recurrent multifocal osteomyelitis
• Synonyms: multifocal osteomyelitis, chronic; chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis; CMO; osteomyelitis, chronic multifocal; chronic recurrent multifocal osteomyelitis (disease); chronic multifocal osteomyelitis; non-bacterial osteomyelitis; chronic recurrent multifocal osteomyelitis; NBO; CRMO; CNO/CRMO
• Definition: Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
• Disease Hierarchy:
  DISCMCGL: Autoinflammatory syndrome
  DIS0VUZL: Osteomyelitis
  DIS8I9FS: Hereditary disorder of connective tissue
  DIST1OU2: Chronic recurrent multifocal osteomyelitis
• Disease Identifiers:
  MONDO ID: MONDO_0009813
  MESH ID: C535456
  UMLS CUI: C0410422
  OMIM ID: 259680
  MedGen ID: 140822
  Orphanet ID: 324964

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPT1B	TTDL0NY	Strong	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC37A2	DTU58HL	Strong	Biomarker	[2]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BLOC1S4	OTDCFUJC	Limited	Biomarker	[3]
LPIN2	OTRRTMXX	Disputed	Biomarker	[4]
PSTPIP2	OTG6F93V	Disputed	Genetic Variation	[5]
FAM20C	OTW5YZ7X	Strong	Genetic Variation	[2]
FBLIM1	OTFHXMON	Strong	Genetic Variation	[6]
RIMS1	OT10T7CK	Strong	Genetic Variation	[7]
RPE	OT0XT3JU	Strong	Altered Expression	[8]
SCARF2	OT0X0ZLC	Strong	Genetic Variation	[2]
SH3BP2	OT90JNBS	Strong	Biomarker	[9]

References

• [1] Mast cells enhance sterile inflammation in chronic nonbacterial osteomyelitis.Dis Model Mech. 2019 Aug 20;12(8):dmm040097. doi: 10.1242/dmm.040097.
• [2] Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.PLoS Genet. 2016 May 17;12(5):e1006037. doi: 10.1371/journal.pgen.1006037. eCollection 2016 May.
• [3] Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence.Clin Exp Rheumatol. 2011 Nov-Dec;29(6):1040-3. Epub 2011 Dec 22.
• [4] Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.Clin Orthop Relat Res. 2007 Sep;462:11-9. doi: 10.1097/BLO.0b013e3180986d73.
• [5] The nonreceptor tyrosine kinase SYK drives caspase-8/NLRP3 inflammasome-mediated autoinflammatory osteomyelitis.J Biol Chem. 2020 Mar 13;295(11):3394-3400. doi: 10.1074/jbc.RA119.010623. Epub 2019 Nov 12.
• [6] Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).PLoS One. 2017 Jul 7;12(7):e0181222. doi: 10.1371/journal.pone.0181222. eCollection 2017.
• [7] Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.Ophthalmic Genet. 2017 Mar-Apr;38(2):178-182. doi: 10.1080/13816810.2016.1183215. Epub 2016 May 13.
• [8] Quantitative analysis of vitreous inflammation using optical coherence tomography in patients receiving sub-Tenon's triamcinolone acetonide for uveitic cystoid macular oedema.Br J Ophthalmol. 2017 Feb;101(2):175-179. doi: 10.1136/bjophthalmol-2015-308008. Epub 2016 May 5.
• [9] Autoinflammatory bone disorders.Curr Opin Rheumatol. 2007 Sep;19(5):492-8. doi: 10.1097/BOR.0b013e32825f5492.