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Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
17q21.31 microdeletion syndrome
1 associated gene
No signs/symptoms info
Li-Fraumeni syndrome
17q21.31 microdeletion syndrome

CHEK2
(UniProt - OMIM)
 KANSL1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP53
(0.52)
KANSL1


Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
17q21.31 microdeletion syndrome
KANSL1



Li-Fraumeni syndrome
17q21.31 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Del(17)(q21.31)
- Monosomy 17q21.31
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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:
No 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


17q21.31 microdeletion syndrome

(no data available)