Sterile multifocal osteomyelitis with periostitis and pustulosis
Synonyms: Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA · Interleukin-1 receptor antagonist deficiency · OMPP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sterile multifocal osteomyelitis with periostitis and pustulosis | Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA · Interleukin-1 receptor antagonist deficiency · OMPP |
| fr | Ostéomyélite stérile multifocale avec périostéite et pustulose | DIRA · Déficit de l'antagoniste du récepteur à l'interleukine-1 · Maladie auto-inflammatoire par déficit de l'antagoniste du récepteur à l'interleukine-1 |
| de | Sterile multifokale Osteomyelitis mit Periostitis und Pustulose | Autoinflammatorische Krankheit durch Interleukin-1-Rezeptorantagonist-Mangel · DIRA · Interleukin-1-Rezeptorantagonist-Mangel · OMPP |
| es | Osteomielitis multifocal estéril con periostitis y pustulosis | DIRA · Deficiencia del antagonista del receptor de interleuquina 1 · Enfermedad autoinflamatoria por deficiencia del antagonista del receptor de interleuquina 1 · OMPP |
| it | Osteomielite multifocale sterile con periostosi e pustolosi | DIRA · Deficit dell'antagonista del recettore dell'interleuchina-1 · Malattia autoinfiammatoria da deficit dell'antagonista del recettore dell'interleuchina-1 · OMPP |
| nl | Steriele multifocale osteomyelitis met periostitis en pustulose | Auto-inflammatoire ziekte door deficiëntie van interleukine-1-receptorantagonist · DIRA · Deficiëntie van interleukine-1-receptorantagonist · OMPP |
| pt | Doença autoinflamatória por deficiência do antagonista do recetor da interleucina-1 | |
| pl | Jałowe wieloogniskowe zapalenie kości i szpiku z zapaleniem okostnej i krostkowicą | Choroba autoimmunologiczna z powodu niedoboru antagonisty receptora interleukiny-1 · DIRA · Niedobór antagonisty receptora interleukiny-1 · OMPP |
| cs | Sterilní multifokální osteomyelitida s periostitidou a pustulózou | DIRA · Deficit antagonisty interleukinu 1 · OMPP · Autoimunitní choroba způsobená deficitem antagonisty interleukin-1 receptoru |
| uk | Стерильний мультифокальний остеомієліт з періоститом та пустульозом | Автозапальне захворювання, спричинене дефіцитом антагоніста рецептора інтерлейкіну-1 · DIRA · Дефіцит антагоністів рецепторів інтерлейкіну-1 · OMPP |
| zh | 无菌多病灶骨髓炎伴骨膜炎和脓疱病 | 白细胞介素-1受体抗体剂缺乏所致自身炎症性疾病 |
| tr | Periostitis ve püstüloz ile seyreden steril multifokal osteomiyelit | DİRA · OMPP · İnterlökin-1 reseptör antagonisti eksikliği · İnterlökin-1 reseptör antagonist eksikliğine bağlı otoinflamatuar hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612852 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | not yet validated |
| ICD-11 | 4A00.Y | NTBT | index | validated |
| MONDO | 0013021 | E | validated | |
| MeSH | C557815 | E | validated | |
| UMLS | C2748507 | E | validated | |
| GARD | 10516 | E | validated | |
| MedDRA | 10072224 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324942Pyogenic autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL1RN | Disease-causing germline mutation(s) in | Assessed | HGNC:6000 | ENSG00000136689 | 147679 | 2q14.1 | interleukin 1 receptor antagonist | 19494218[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 24131530[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24131530[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210115
- This record as JSON: /data/d/210115.json