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3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 3
2 OMIM references -
3 associated genes
No signs/symptoms info
Li-Fraumeni syndrome
Cockayne syndrome type 1

CHEK2 ERCC4
TP53 ERCC6
ERCC8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
TP53
CHEK2
(0.9)
(0.63)
(0.52)
ERCC6
ERCC8
ERCC6



Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Cockayne syndrome type 1
ERCC4 ERCC6 ERCC8



Li-Fraumeni syndrome
Cockayne syndrome type 1

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Li-Fraumeni syndrome

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


Cockayne syndrome type 1

(no data available)