ORPHA:251304
Infantile onset panniculitis with uveitis and systemic granulomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare granulomatous autoinflammatroy syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile onset panniculitis with uveitis and systemic granulomatosis | |
| fr | Panniculite infantile avec uvéite et granulomatose systémique | |
| de | Pannikulitis mit Uveitis und systemischer Granulomatose, infantile Form | |
| es | Paniculitis de inicio en el lactante con uveitis y granulomatosis sistémica | |
| it | Panniculite ad esordio neonatale con uveite e granulomatosi sistemica | |
| nl | Infantiele panniculitis met uveïtis en systemische granulomatose | |
| pt | Paniculite de início na infância com uveíte e granulomatose sistémica | |
| pl | Zapalenie tkanki tłuszczowej o początku w wieku dziecięcym z zapaleniem błony naczyniowej i ziarniniakowatością układową | |
| cs | Pannikulitida dětského věku s uveitidou a systémovou granulomatózou | |
| uk | Інфантильний паннікуліт з увеїтом та системним гранулематозом | |
| zh | 婴儿起病脂膜炎伴葡萄膜炎和全身性肉芽肿病 | |
| tr | Üveit ve sistemik granülomatoz ile seyreden infantil başlangıçlı pannikülit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M08.8 | NTBT | attributed | validated |
| ICD-11 | EB7Y | NTBT | index | validated |
| MONDO | 0016661 | E | validated | |
| UMLS | C4750785 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:324930Granulomatous autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324950Granulomatous autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 18035159[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18035159[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251304
- This record as JSON: /data/d/251304.json