ORPHA:85408
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Synonyms: Juvenile polyarthritis without rheumatoid factor · Juvenile rheumatoid factor-negative polyarthritis · Rheumatoid factor-negative polyarticular JIA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Childhood
- Status
- active
A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | Juvenile polyarthritis without rheumatoid factor · Juvenile rheumatoid factor-negative polyarthritis · Rheumatoid factor-negative polyarticular JIA |
| fr | Arthrite juvénile idiopathique polyarticulaire sans facteur rhumatoïde | AJI polyarticulaire sans facteur rhumatoïde · Polyarthrite juvénile facteur rhumatoïde négatif · Polyarthrite juvénile sans facteur rhumatoïde |
| de | Arthritis, idiopathische juvenile polyartikuläre, Rheumafaktor-negative | Juvenile Polyarthritis ohne Rheumafaktor · Polyarthritis, juvenile, Rheumafaktor-negative · Rheumafaktor-negative polyartikuläre JIA |
| es | Artritis idiopática juvenil poliarticular factor reumatoide negativo | AIJ poliarticular factor reumatoide negativo · Poliartritis juvenil factor reumatoide negativo · Poliartritis juvenil sin factor reumatoide |
| it | Artrite idiopatica giovanile poliarticolare con fattore reumatoide negativo | |
| nl | Reumafactor-negatieve polyarticulaire juveniele idiopathische artritis | Juveniele polyartritis zonder reumafactor · Juveniele reumafactor-negatieve polyartritis · Reumafactor-negatieve polyarticulaire JIA |
| pt | Poliartrite sem fator reumatóide | |
| pl | Młodzieńcze zapalenie stawów z ujemnym czynnikiem reumatoidalnym | Zapalenie wielostawowe bez czynnika reumatoidalnego · JIA z ujemnym czynnikiem reumatoidalnym · Zapalenie wielostawowe bez czynnika reumatoidalnego · Młodzieńcze zapalenie wielostawowe bez czynnika reumatoidalnego |
| cs | Juvenilní revmatoidní faktor-negativní polyartritida | Polyartritida bez revmatoidního faktoru |
| uk | Ревматоїдний фактор-негативний поліартикулярний ювенільний ідіопатичний артрит | Ювенільний поліартрит без ревматоїдного фактора · Ювенільний ревматоїдний фактор-негативний поліартрит · Ревматоїдний фактор-негативний поліартикулярний ЮРА |
| zh | 类风湿因子阴性的多关节型幼年特发性关节炎 | 类风湿因子阴性的幼年多发性关节炎 |
| tr | Romatoid faktör-negatif poliartiküler jüvenil idiyopatik artrit | Romatoid faktör negatif poliartiküler JIA · Romatoid faktör olmaksızın jüvenil poliartrit · Jüvenil romatoid faktör-negatif poliartrit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M08.3 | NTBT | inclusion | validated |
| ICD-11 | FA24.1 | NTBT | index | validated |
| MONDO | 19432 | E | validated | |
| UMLS | C3890205 | E | validated | |
| GARD | 3931 | 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:404580Polyarticular juvenile 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:247854OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies referred to · inactive
- ORPHA:247861OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies referred to · inactive
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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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8 / 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
31 annotations · validated 2021-05-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0001785 | Ankle swelling | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0100686 | Enthesitis | |
| HP:0001387 | Joint stiffness | |
| HP:0001386 | Joint swelling | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0005186 | Synovial hypertrophy | |
| HP:0100769 | Synovitis | |
| Occasional (29-5%) | ||
| HP:0001832 | Abnormal metatarsal morphology | |
| HP:0011911 | Abnormality of metacarpophalangeal joint | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0001155 | Abnormality of the hand | |
| HP:0001384 | Abnormality of the hip joint | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0001903 | Anemia | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0001371 | Flexion contracture | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0011134 | Low-grade fever | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0003326 | Myalgia | |
| HP:0040313 | Oligoarthritis | |
| HP:0000554 | Uveitis | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001094 | Iridocyclitis | |
Annotation source: 17336654[PMID]_28418334[PMID]_32119492[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85408
- This record as JSON: /data/d/85408.json