Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
Synonyms: Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20 · Early-onset autoinflammatory syndrome associated with TNFAIP3 · HA20-related monogenic Behcet-like disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare autoinflammatory syndrome characterized by mostly early-onset, recurrent, refractory fever attacks, painful and recurrent mucosal ulceration affecting predominantly gastrointestinal (that may lead to inflammatory bowel disease), oral and genital areas. Additional variable features may include skin rash, psoriasis, axillary dermal abscesses, musculoskeletal disorders, polyarthritis, arthralgia, and autoimmune thyroid disorder. Ocular manifestations (including uveitis, chorioretinal scarring and macular fibrosis secondary to retinal vasculitis) are infrequent.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20 · Early-onset autoinflammatory syndrome associated with TNFAIP3 · HA20-related monogenic Behcet-like disease |
| fr | Syndrome autoinflammatoire à début précoce lié à une haploinsuffisance en A20 | Maladie de Behçet-like à début précoce associée à TNFAIP3 · Maladie de Behçet-like à début précoce liéé à une haploinsuffisance de A20 |
| de | Früh einsetzendes autoinflammatorisches Syndrom durch A20-Haploinsuffizienz | A20-Haploinsuffizienz-Syndrom · Behcet-artiges familiäres autoinflammatorisches Syndrom Typ 1 · HA20-assoziierte monogene Behçet-ähnliche Krankheit · TNFAIP3-assoziiertes früh einsetzendes autoinflammatorisches Syndrom |
| es | Síndrome autoinflamatorio por haploinsuficiencia de A20 de inicio precoz | EAI por HA20 de inicio precoz · Enfermedad autoinflamatoria por HA20 de inicio precoz · Enfermedad monogénica por HA20 similar a Behçet · Síndrome autoinflamatorio asociado al gen TNFAIP3 de inicio precoz |
| it | Sindrome autoinfiammatoria ad esordio precoce da aploinsufficienza di A20 | AID ad esordio precoce da HA20 · Malattia autoinfiammatoria ad esordio precoce da HA20 · Malattia monogenica simil-Behçet correlata a HA20 · Sindrome autoinfiammatoria ad esordio precoce correlata a TNFAIP3 · Malattia monogenica simil-Behçet correlata a HA20 |
| nl | Vroeg optredend auto-inflammatoir syndroom door A20-haploinsufficiëntie | HA20-gerelateerde monogene Behçet-achtige ziekte · Vroeg optredend AID door HA20 · Vroeg optredend auto-inflammatoir syndroom geassocieerd met TNFAIP3 · Vroeg optredende auto-inflammatoire aandoening door HA20 |
| pt | Síndrome auto-inflamatório de início precoce devido a haploinsuficiência A20 | AID de início precoce devido a HA20 · Doença auto-inflamatória de início precoce devido a HA20 · Doença monogénica Behecet-like HA20-relacionada · Síndrome auto-inflamatório de início precoce associado a TNFAIP3 |
| pl | Zespół autozapalny o wczesnym początku z powodu haploinsufficiencji A20 | = en |
| cs | Autoinflamatorní syndrom způsobený haploinsuficiencí A20 s časným nástupem | = en |
| uk | Ранній аутозапальний синдром, зумовлений гаплонедостатністю А20 | Ранній початок СНІДу, спричиненого HA20 · Ранній початок аутозапального захворювання, спричиненого HA20 · Ранній аутозапальний синдром, асоційований з TNFAIP3 · Повязана з HA20 моногенна хвороба Бехчета |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616744 | E | validated | |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0800045 | E | validated | |
| MONDO | 800045 | E | validated | |
| UMLS | C5925090 | 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:619238Rare hereditary autoinflammatory disease
rare genetic diseases - ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324953Unclassified autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFAIP3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11896 | ENSG00000118503 | 191163 | 6q23.3 | TNF alpha induced protein 3 | 30810840[PMID]_26642243[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/674762
- This record as JSON: /data/d/674762.json