ORPHA:829
Adult-onset Still disease
Synonyms: AOSD · Wissler-Fanconi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset Still disease | AOSD · Wissler-Fanconi syndrome |
| fr | Maladie de Still de l'adulte | AOSD · MSA · Syndrome de Wissler-Fanconi |
| de | Still-Syndrom des Erwachsenen | AOSD · Wissler-Fanconi-Syndrom |
| es | Enfermedad de Still del adulto | AOSD · Síndrome de Wissler-Fanconi |
| it | Malattia di Still a esordio nell'adulto | AOSD · Sindrome di Wissler-Fanconi |
| nl | Ziekte van Still met aanvang op volwassen leeftijd | AOSD · Syndroom van Wissler-Fanconi |
| pt | Doença Still com início na idade adulta | Síndrome Wissler-Fanconi |
| pl | Choroba Stilla z początkiem w wieku dorosłym | AOSD · Zespół Wisslera i Fanconiego |
| cs | Stillova nemoc s nástupem v dospělém věku | AOSD · Wisslerův-Fanconiho syndrom · Wissler-Fanconiho syndrom |
| uk | Хвороба Стілла, що починається у дорослих | AOSD · Синдром Вісслера-Фанконі |
| zh | 成人Still病 | Wissler-Fanconi综合征 |
| tr | Erişkin başlangıçlı Still hastalığı | AOSD · Wissler-Fanconi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M06.1 | E | specific | validated |
| ICD-11 | FA23 | E | specific | validated |
| MONDO | 0019355 | E | validated | |
| MeSH | D016706 | E | validated | |
| UMLS | C0085253 | E | validated | |
| GARD | 436 | E | validated | |
| MedDRA | 10064056 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.16 / 100 000 | France | Value and class | Validated | 7668903[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | Japan | Value and class | Validated | 9465547[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.9 / 100 000 | Japan | Value and class | Validated | 25382730[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | Norway | Value and class | Validated | 16467042[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.9 / 100 000 | Norway | Value and class | Validated | 16467042[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_16467042[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.62 / 100 000 | Turkey | Value and class | Validated | 26320744[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.77 / 100 000 | Turkey | Value and class | Validated | 26320744[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.
6
HPO phenotypes
59 annotations · validated 2024-06-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | Diagnostic criterion |
| HP:0005059 | Arthralgia/arthritis | Diagnostic criterion |
| HP:0001369 | Arthritis | Diagnostic criterion |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0010783 | Erythema | Diagnostic criterion |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | Diagnostic criterion |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001974 | Increased total leukocyte count | Diagnostic criterion |
| HP:0001386 | Joint swelling | |
| HP:0011897 | Neutrophilia | Diagnostic criterion |
| HP:0000989 | Pruritus | |
| HP:0000988 | Skin rash | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001903 | Anemia | |
| HP:0025406 | Asthenia | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | Diagnostic criterion |
| HP:0008940 | Generalized lymphadenopathy | |
| HP:0002240 | Hepatomegaly | Diagnostic criterion |
| HP:6000933 | Koebner Phenomenon | |
| HP:0002716 | Lymphadenopathy | Diagnostic criterion |
| HP:0040186 | Maculopapular exanthema | |
| HP:0003326 | Myalgia | |
| HP:0033050 | Pharyngalgia | Diagnostic criterion |
| HP:0025439 | Pharyngitis | Diagnostic criterion |
| HP:0002202 | Pleural effusion | |
| HP:0002102 | Pleuritis | |
| HP:0001744 | Splenomegaly | Diagnostic criterion |
| HP:0005828 | Transient pulmonary infiltrates | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0002039 | Anorexia | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0100773 | Cartilage destruction | |
| HP:0012544 | Elevated circulating aldolase concentration | |
| HP:0001298 | Encephalopathy | |
| HP:0012156 | Hemophagocytosis | |
| HP:0012115 | Hepatitis | |
| HP:0006515 | Interstitial pneumonitis | |
| HP:0002840 | Lymphadenitis | |
| HP:0012819 | Myocarditis | |
| HP:0002018 | Nausea | |
| HP:0001733 | Pancreatitis | |
| HP:0001701 | Pericarditis | |
| HP:0000093 | Proteinuria | |
| HP:0002098 | Respiratory distress | |
| HP:0002923 | Rheumatoid factor positive | |
| Very rare (<4-1%) | ||
| HP:0011034 | Amyloidosis | |
| HP:0000509 | Conjunctivitis | |
| HP:0005521 | Disseminated intravascular coagulation | |
| HP:0100534 | Episcleritis | |
| HP:0033430 | Non-infectious meningitis | |
| HP:0000554 | Uveitis | |
| Excluded (0%) | ||
| HP:0002665 | Lymphoma | Diagnostic criterion |
| HP:0100806 | Sepsis | Diagnostic criterion |
| HP:0031693 | Severe Epstein Barr virus infection | Diagnostic criterion |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 34175791[PMID]_30855928[PMID]_19028363[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/829
- This record as JSON: /data/d/829.json