Rowell syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
A rare rheumatologic disease characterized by combination of systemic or cutaneous lupus erythematosus with erythema multiform-like skin lesions and characteristic immunologic findings including speckled pattern of antinuclear antibody, presence of anti-Ro/SSA or anti-La/SSB antibodies or rheumatoid factor. Chilblains may also be present. Patients may present with fever, hair loss, photosensitivity, polyarthralgia, morning stiffness, fatigue, weight loss and oral ulcers. Middle-aged women are predominantly affected.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rowell syndrome | |
| fr | Syndrome de Rowell | |
| de | Rowell-Syndrom | |
| es | Síndrome de Rowell | |
| it | Sindrome di Rowel | |
| nl | Syndroom van Rowell | |
| pt | Síndrome Rowell | |
| pl | Zespół Rowella | |
| cs | Rowellův syndrom | |
| uk | Синдром Роуелла |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M32.8 | NTBT | attributed | validated |
| ICD-11 | 4A40.0Y | NTBT | attributed | validated |
| MONDO | 0041186 | E | validated | |
| MONDO | 41186 | E | validated | |
| UMLS | C0406637 | 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 (2):
- ORPHA:315350Autoimmune disease with skin involvement
rare skin diseases - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 73 cases | Worldwide | Case(s) | Validated | 22170759[PMID]_32967943[PMID]_32607016[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 22170759[PMID]_32967943[PMID]_32607016[PMID]_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/658584
- This record as JSON: /data/d/658584.json