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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
13 signs/symptoms
Chuvash erythrocytosis
Systemic-onset juvenile idiopathic arthritis

VHL IL6
MIF


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VHL
(0.82)
MIF



Citations in the biomedical literature:


Chuvash erythrocytosis
VHL
Systemic-onset juvenile idiopathic arthritis
IL6 MIF



Chuvash erythrocytosis
Systemic-onset juvenile idiopathic arthritis

Synonym(s):
- Chuvash polycythemia
- Von Hippel-Lindau-dependent polycythemia

Synonym(s):
- Still disease
- Systemic polyarthritis

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare respiratory disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Systemic-onset juvenile idiopathic arthritis

Very frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Autoimmunity / autoimmune reaction / autoantibodies
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cutaneous rash
- Fever / chilling
- Hydrarthrosis / articular / joint effusion

Frequent
- Mediastinal / hilar adenopathies

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Acute abdominal pain / colic
- Hepatomegaly / liver enlargement (excluding storage disease)
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Splenomegaly


Chuvash erythrocytosis

(no data available)