ORPHA:85414
Systemic-onset juvenile idiopathic arthritis
Synonyms: Still disease · Systemic-onset JIA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Unknown
- Age of onset
- Childhood
- Status
- active
A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Systemic-onset juvenile idiopathic arthritis | Still disease · Systemic-onset JIA |
| fr | Arthrite juvénile idiopathique systémique | AJI systémique · Maladie de Still |
| de | Arthritis, idiopathische juvenile, systemische | Still-Krankheit · sJIA |
| es | Artritis idiopática juvenil de inicio sistémico | AIJ de inicio sistémico · Enfermedad de Still |
| it | Artrite idiopatica giovanile a esordio sistemico | JIA a esordio sistemico · Malattia di Still |
| nl | Juveniele idiopathische artritis met systemische aanvang | JIA met systemische aanvang · Ziekte van Still |
| pt | Artrite juvenil idiopática de início sistémico | Doença Still · Febre persistente indeterminada |
| pl | Uogólnione idiopatyczne młodzieńcze zapalenie stawów o wczesnym początku | Choroba Stilla · Uogólnione zapalenie wielostawowe |
| cs | Systémová forma juvenilní idiopatické artritidy | Stillova choroba · Systémová polyartritida · Systémová JIA |
| uk | Системний ювенільний ідіопатичний артрит | Хвороба Стілла · Системний початок ЮРА |
| zh | 全身型幼年特发性关节炎 | 系统性多关节炎 |
| tr | Sistemik başlangıçlı jüvenil idiyopatik artrit | Stil hastalığı · Sistemik başlangıçlı JIA · Sistemik poliartrit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604302 | E | validated | |
| OMIM | 618795 | BTNT | validated | |
| ICD-10 | M08.2 | E | specific | validated |
| ICD-11 | FA24.4 | E | specific | validated |
| MONDO | 0019434 | E | validated | |
| UMLS | C0087031 | E | validated | |
| GARD | 10966 | E | validated | |
| MedDRA | 10042061 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:92Juvenile idiopathic arthritis
rare respiratory diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders - ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LACC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26789 | ENSG00000179630 | 613409 | 13q14.11 | laccase domain containing 1 | 25220867[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 26598658[PMID] |
| IL6 | Major susceptibility factor in | Not yet assessed | HGNC:6018 | ENSG00000136244 | 147620 | 7p15.3 | interleukin 6 | |
| MIF | Major susceptibility factor in | Not yet assessed | HGNC:7097 | ENSG00000240972 | 153620 | 22q11.23 | macrophage migration inhibitory factor |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.1 / 100 000 | Worldwide | Value and class | Validated | 24210707[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.6 / 100 000 | Worldwide | Value and class | Validated | 24210707[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.
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HPO phenotypes
22 annotations · validated 2024-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0002960 | Autoimmunity | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001945 | Fever | |
| HP:0001386 | Joint swelling | |
| HP:0005681 | Juvenile rheumatoid arthritis | |
| HP:0000988 | Skin rash | |
| Frequent (79-30%) | ||
| HP:0002716 | Lymphadenopathy | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0012122 | Anterior uveitis | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0000099 | Glomerulonephritis | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0033430 | Non-infectious meningitis | |
| HP:0000938 | Osteopenia | |
| HP:0001701 | Pericarditis | |
| HP:0002202 | Pleural effusion | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 27392503[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85414
- This record as JSON: /data/d/85414.json