VEXAS syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare autoinflammatory syndrome characterized by adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis, and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | VEXAS syndrome | |
| fr | Syndrome VEXAS | |
| de | VEXAS-Syndrom | |
| es | Síndrome VEXAS | Vacuolas, enzima E1, ligado al cromosoma X, autoinflamatorio, somático |
| it | Sindrome VEXAS | Sindrome autoinfiammatoria somatica legata all'X con vacuoli e interessamento dell'enzima E1 |
| nl | VEXAS-syndroom | Vacuole, E1-enzym, X-gebonden, auto-inflammatoir, somatisch |
| pt | Síndrome VEXAS | |
| pl | Zespół VEXAS | Wakuole, enzym E1, sprzężony z chromosomem X, autozapalny, somatyczny |
| cs | Syndrom VEXAS | |
| uk | Синдром VEXAS | |
| zh | VEXAS syndrome | |
| tr | VEXAS syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301054 | E | validated | |
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0026777 | E | validated | |
| MeSH | C000721467 | E | validated | |
| UMLS | C5435753 | E | validated | |
| MedDRA | 10085860 | 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 (3):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:156143Predominantly medium-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBA1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:12469 | ENSG00000130985 | 314370 | Xp11.3 | ubiquitin like modifier activating enzyme 1 | 33108101[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 34489099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/596753
- This record as JSON: /data/d/596753.json