ORPHA:324933
Mixed autoinflammatory and autoimmune syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
A group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mixed autoinflammatory and autoimmune syndrome | |
| fr | Syndrome mixte auto-inflammatoire et auto-immun | |
| de | Autoinflammatorisches und autoimmunes Syndrom, gemischtes | |
| es | Síndrome autoinflamatorio y autoinmune mixto | |
| it | Sindrome mista autoinfiammatoria e autoimmune | |
| nl | Gemengd auto-inflammatoir en auto-immuun syndroom | |
| pt | Síndrome autoinflamatória e autoimune mista | |
| pl | Mieszany zespół autozapalny i autoimmunologiczny | |
| cs | Smíšený autoinflamatorní a autoimunitní syndrom | |
| uk | Змішаний аутозапальний та аутоімунний синдром | |
| zh | 混合性自身炎症和自身免疫综合征 | |
| tr | Karma otoinflamatuar ve otoimmün sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17956 | E | validated | |
| UMLS | C5680958 | 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:93665Autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:319719Autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
Children (7):
- ORPHA:324530Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- ORPHA:329173Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- ORPHA:619948Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
- ORPHA:658946Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
- ORPHA:695807Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
- ORPHA:300359PLCG2-associated antibody deficiency and immune dysregulation
- ORPHA:1214Progressive hemifacial atrophy
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/324933
- This record as JSON: /data/d/324933.json