ORPHA:85410
Oligoarticular juvenile idiopathic arthritis
Synonyms: Oligoarticular JIA · Pauciarticular chronic arthritis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Childhood
- Status
- active
A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oligoarticular juvenile idiopathic arthritis | Oligoarticular JIA · Pauciarticular chronic arthritis |
| fr | Arthrite juvénile idiopathique oligoarticulaire | AJI oligoarticulaire · Arthrite chronique pauci-articulaire · Oligoarthrite juvénile |
| de | Arthritis, idiopathische juvenile, oligoartikuläre | Arthritis, chronische pauciartikuläre · Oligoarthritis mit antinukleäre Faktoren · Oligoartikuläre JIA |
| es | Artritis idiopática juvenil oligoarticular | AIJ oligoarticular · Artritis crónica pauciarticular |
| it | Artrite idiopatica giovanile oligoarticolare | Artrite pauciarticolare cronica |
| nl | Oligoarticulaire juveniele idiopathische artritis | Oligoarticulaire JIA · Pauciarticulaire chronische artritis |
| pt | Artrite oligoarticular juvenil | |
| pl | Młodzieńcze zapalenie kilku stawów | JIA pojedynczych stawów · Przewlekłe zapalenie kilku stawów |
| cs | Oligoartikulární forma juvenilní idiopatické artritidy | Pauciartikulární juvenilní artritida |
| uk | Олігосуглобовий ювенільний ідіопатичний артрит | Олігосуглобовий ЮРА · Хронічний суглобово-суглобовий хронічний артрит |
| zh | 少关节型幼年特发性关节炎 | 少关节型慢性关节炎 |
| tr | Oligoartiküler jüvenil idiyopatik artrit | Oligoartiküler JIA · Pauciartiküler kronik artrit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M08.4 | E | specific | validated |
| ICD-11 | FA24.0 | E | specific | validated |
| MONDO | 0019433 | E | validated | |
| MeSH | C536312 | E | validated | |
| UMLS | C2931171 | E | validated | |
| GARD | 4261 | 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:280926Systemic diseases with anterior uveitis
rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:247839OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies referred to · inactive
- ORPHA:247846OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies referred to · inactive
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANKRD55 | Major susceptibility factor in | Not yet assessed | HGNC:25681 | ENSG00000164512 | 615189 | 5q11.2 | ankyrin repeat domain 55 | 23603761[PMID] |
| CD247 | Major susceptibility factor in | Assessed | HGNC:1677 | ENSG00000198821 | 186780 | 1q24.2 | CD247 molecule | 22294642[PMID] |
| IL2RA | Major susceptibility factor in | Assessed | HGNC:6008 | ENSG00000134460 | 147730 | 10p15.1 | interleukin 2 receptor subunit alpha | 22294642[PMID] |
| IL2RB | Major susceptibility factor in | Not yet assessed | HGNC:6009 | ENSG00000100385 | 146710 | 22q12.3 | interleukin 2 receptor subunit beta | 23603761[PMID] |
| PTPN2 | Major susceptibility factor in | Assessed | HGNC:9650 | ENSG00000175354 | 176887 | 18p11.21 | protein tyrosine phosphatase non-receptor type 2 | 22294642[PMID] |
| PTPN22 | Major susceptibility factor in | Assessed | HGNC:9652 | ENSG00000134242 | 600716 | 1p13.2 | protein tyrosine phosphatase non-receptor type 22 | 23603761[PMID] |
| STAT4 | Major susceptibility factor in | Assessed | HGNC:11365 | ENSG00000138378 | 600558 | 2q32.2-q32.3 | signal transducer and activator of transcription 4 | 23603761[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20.5 / 100 000 | Europe | Value and class | Not yet 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.
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HPO phenotypes
20 annotations · validated 2021-05-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0001369 | Arthritis | |
| HP:0040313 | Oligoarthritis | |
| Frequent (79-30%) | ||
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0002960 | Autoimmunity | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001508 | Failure to thrive | |
| HP:0030356 | Increased serum interferon-gamma level | |
| HP:0001382 | Joint hypermobility | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0000554 | Uveitis | |
| Occasional (29-5%) | ||
| HP:0007833 | Anterior chamber synechiae | |
| HP:0000585 | Band keratopathy | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0000518 | Cataract | |
| HP:0000501 | Glaucoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28428675[PMID]_26968301[PMID]_21621220[PMID]_21320644[PMID]_28052441[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85410
- This record as JSON: /data/d/85410.json