Proteasome-associated autoinflammatory syndrome
Synonyms: ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome · PRAAS · Proteasome disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proteasome-associated autoinflammatory syndrome | ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome · PRAAS · Proteasome disability syndrome |
| fr | Syndrome auto-inflammatoire lié au protéasome | PRAAS · Syndrome ALDD · Syndrome auto-inflammatoire-lipodystrophie-dermatoses |
| de | Proteasom-assoziiertes autoinflammatorisches Syndrom | ALDD-Syndrom · Autoinflammation-Lipodystrophie-Dermatose-Syndrom · PRAAS · Störung der Proteasom-Funktionalität |
| es | Síndrome autoinflamatorio asociado al proteosoma | PRAAS · Síndrome de ALDD · Síndrome de autoinflamación-lipodistrofia-dermatosis · Síndrome de discapacidad por proteosoma |
| it | Sindrome autoinfiammatoria correlata al proteasoma | PRAAS · Sindrome ALDD · Sindrome autoinfiammatoria proteasoma-correlata · Sindrome autoinfiammatoria-lipodistrofia-dermatosi |
| nl | Proteasoom-geassocieerd auto-inflammatoir syndroom | ALDD-syndroom · Auto-inflammatie - lipodystrofie - dermatose-syndroom · PRAAS · Proteasoomdisfunctie-syndroom |
| pt | Síndrome autoinflamatório associado aos proteossomas | |
| pl | Zespół niestabilności proteasomów | PRAAS · Zespół ALDD · Zespół autozapalenia związany z proteasomami · Zespół autozapalenie-lipodystrofia-dermatozy |
| cs | Syndrom postižení proteazomu | ALDD syndrom · PRAAS · Autoimunitní syndrom asociovaný s proteazomem · Syndrom zahrnující autozáněty, lipodystrofii a dermatózu |
| uk | Протеасома-асоційований аутозапальний синдром | Синдром ALDD · Синдром аутозапалення-ліподистрофії-дерматозу · PRAAS · Синдром протеасомної інвалідності |
| zh | 蛋白酶体相关自身炎症综合征 | 自身炎症-脂质营养不良-皮肤病综合征 |
| tr | Proteazomla -ilişkili otoinflamatuar sendrom | PRAAS · ALDD sendromu · Proteazom sakatlık sendromu · Otoinflamasyon-lipodistrofi-dermatoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256040 | BTNT | validated | |
| OMIM | 617591 | BTNT | validated | |
| OMIM | 618048 | BTNT | validated | |
| OMIM | 619175 | BTNT | validated | |
| OMIM | 619183 | BTNT | validated | |
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0009726 | 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 (5):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2615Nakajo-Nishimura syndrome moved to · inactive
- ORPHA:324999JMP syndrome moved to · inactive
- ORPHA:325004CANDLE syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSMB8 | Disease-causing germline mutation(s) in | Assessed | HGNC:9545 | ENSG00000204264 | 177046 | 6p21.32 | proteasome 20S subunit beta 8 | 21852578[PMID]_21129723[PMID]_21953331[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24131530[PMID] |
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 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/324977
- This record as JSON: /data/d/324977.json