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3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
13 signs/symptoms
Li-Fraumeni syndrome
Systemic-onset juvenile idiopathic arthritis

CHEK2 IL6
TP53 MIF


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.65)
MIF



Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Systemic-onset juvenile idiopathic arthritis
IL6 MIF



Li-Fraumeni syndrome
Systemic-onset juvenile idiopathic arthritis

Synonym(s):
(no synonyms)

Synonym(s):
- Still disease
- Systemic polyarthritis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare respiratory disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

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

External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
No MeSH references

Li-Fraumeni syndrome
Systemic-onset juvenile idiopathic arthritis

Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer


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