NLRP3-associated autoinflammatory disease
Synonyms: CAPS · Cryopyrin associated periodic syndrome · Cryopyrinopathy · NLRP3-associated AID · NLRP3-associated autoinflammatory syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NLRP3-associated autoinflammatory disease | CAPS · Cryopyrin associated periodic syndrome · Cryopyrinopathy · NLRP3-associated AID · NLRP3-associated autoinflammatory syndrome |
| fr | Maladie auto-inflammatoire associée à NLRP3 | CAPS · Cryopyrinopathie · Maladie auto-inflammatoire associée à la cryopyrine · Syndrome auto-inflammatoire associé à NLRP3 · Syndrome périodique associé à la cryopyrine |
| de | NLRP3-assoziierte autoinflammatorische Krankheit | CAPS · Cryopyrin-assoziiertes periodisches Syndrom · Cryopyrinopathie · NLRP3-assoziiertes autoinflammatorisches Syndrom |
| es | Enfermedad autoinflamatoria asociada a NLRP3 | CAPS · Criopirinopatía · EAI asociada a NLRP3 · Síndrome autoinflamatorio asociado a NLRP3 · Síndrome periódico asociado a la criopirina |
| it | Malattia autoinfiammatoria correlata a NLRP3 | Sindrome autoinfiammatoria correlata a NLRP3 · AID associata a NLRP3 · Sindrome periodica associata alla criopirina · CAPS · Criopirinopatia |
| nl | NLRP3-geassocieerde auto-inflammatoire ziekte | CAPS · Cryopyrine-geassocieerd periodiek syndroom · Cryopyrinopathie · NLRP3-geassocieerd auto-inflammatoir syndroom |
| pt | Doença auto-inflamatória NLRP3-associada | CAPS · Criopirinopatia · Síndrome auto-inflamatória NLRP3-associada · Síndrome periódica associado à criopirina · AID NLRP3-associada |
| pl | Zespół okresowy zależny od kriopiryny | CAPS · Kriopirynopatia |
| cs | Periodické syndromy asociované s kryopyrinem | CAPS · Kryopyrinopatie |
| uk | NLRP3-асоційоване аутозапальне захворювання | CAPS · Періодичний синдром, асоційований з кріопірином · Кріопіринопатія · NLRP3-асоційована AID · NLRP3-асоційований аутозапальний синдром |
| zh | Cryopyrin蛋白相关的周期性综合征 | NLRP3相关全身性自身炎症性疾病 |
| tr | Kriyopirin -ilişkili periyodik sendrom | CAPS · Kriyopirinopati · NLRP3-ilişkili sistemik otoinflamatuar hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A60.1 | E | specific | validated |
| MONDO | 0016168 | E | validated | |
| MONDO | 16168 | E | validated | |
| MeSH | D056587 | E | validated | |
| UMLS | C2316212 | E | validated | |
| GARD | 10927 | E | validated | |
| MedDRA | 10068850 | 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 (4):
- 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:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.28 / 100 000 | France | Value and class | Validated | 21109514[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/208650
- This record as JSON: /data/d/208650.json