ORPHA:85438
Enthesitis-related juvenile idiopathic arthritis
Synonyms: Enthesitis-related JIA · Juvenile ERA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Enthesitis-related juvenile idiopathic arthritis | Enthesitis-related JIA · Juvenile ERA |
| fr | Arthrite juvénile idiopathique associée aux enthésopathies | AJI associée aux enthésopathies |
| de | Arthritis, idiopathische juvenile, Enthesitis-assoziierte | Enthesitis-assoziierte JIA · Juvenile ERA |
| es | Artritis idiopática juvenil asociada a entesitis | AIJ asociada a entesitis · ARE juvenil |
| it | Entesite correlata all'artrite idiopatica giovanile | Spondiloartropatia giovanile |
| nl | Enthesitis-gerelateerde juveniele idiopathische artritis | Enthesitis-gerelateerde JIA · Juveniele ERA |
| pt | Artrite relacionada com entesite | Artrite relacionada com entesite |
| pl | Młodzieńcze idiopatyczne zapalenie stawów związane z zapaleniem przyczepów ścięgnistych | ERA · JIA związane z zapaleniem przyczepów ścięgnistych |
| cs | Artritida s entezitidou | ERA · Juvenilní spondyloartropatie |
| uk | Ентезит-асоційований ювенільний ідіопатичний артрит | ЮРА, повязаний з ентезитом · Ювенільний ЮРА |
| zh | 附着点炎症相关幼年特发性关节炎 | 附着点炎相关性JIA |
| tr | Entezite bağlı jüvenil idiyopatik artrit | ERA · Entezit-ilişkili JIA |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M08.8 | NTBT | attributed | validated |
| ICD-11 | FA24.3 | E | specific | validated |
| MONDO | 0019437 | E | validated | |
| UMLS | C3495919 | E | validated | |
| GARD | 10969 | 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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5.7 / 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
34 annotations · validated 2021-05-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0100686 | Enthesitis | |
| Frequent (79-30%) | ||
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0008364 | Abnormality of the calcaneus | |
| HP:0100536 | Abnormality of the fascia | |
| HP:0001384 | Abnormality of the hip joint | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0003418 | Back pain | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0040313 | Oligoarthritis | |
| HP:0012317 | Sacroiliac arthritis | |
| HP:0004690 | Thickened Achilles tendon | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001832 | Abnormal metatarsal morphology | |
| HP:0011911 | Abnormality of metacarpophalangeal joint | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0003366 | Abnormality of the femoral neck or head region | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0100711 | Abnormality of the thoracic spine | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0012122 | Anterior uveitis | |
| HP:0031090 | Finger dactylitis | |
| HP:0006217 | Limited mobility of proximal interphalangeal joint | |
| HP:0007813 | Nongranulomatous uveitis | |
| Very rare (<4-1%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0006698 | Dilatation of the ventricular cavity | |
| HP:0000794 | IgA deposition in the glomerulus | |
| HP:0001634 | Mitral valve prolapse | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29609643[PMID]_30884197[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85438
- This record as JSON: /data/d/85438.json