Systemic-onset juvenile idiopathic arthritis

General Information (adopted from Orphanet):

Synonyms, Signs: SYSTEMIC JUVENILE RHEUMATOID ARTHRITIS
Systemic polyarthritis
Still disease
Number of Symptoms 12
OrphanetNr: 85414
OMIM Id: 604302
ICD-10: M08.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 of 100 000 [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Juvenile idiopathic arthritis
 -Rare respiratory disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
2
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
3
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
4
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
5
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
6
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
7
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
8
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
9
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
10
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
11
 (HPO:0100721) Mediastinal lymphadenopathy Frequent [Orphanet] 19 / 7739
12
 (HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Systemic juvenile rheumatoid arthritis is a subset of juvenile chronic, or idiopathic, arthritis, representing approximately 11% of patients with this disease. The systemic-onset form represents a subgroup most likely to be associated with severe, debilitating, extraarticular features, and ...
Molecular genetics OMIM Fishman et al. (1998) found a relationship between a polymorphism of IL6 (147620.0001) and systemic juvenile rheumatoid arthritis.

Donn et al. (2001) identified a G-to-C transition at position -173 of the MIF gene (153620.0001) and screened ...