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3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 3
1 OMIM reference -
3 associated genes
14 signs/symptoms
Li-Fraumeni syndrome
Muir-Torre syndrome

CHEK2 MLH1
TP53 MSH2
MSH6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CHEK2
TP53
TP53
(0.89)
(0.73)
(0.63)
MSH2
MSH2
MSH6



Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Muir-Torre syndrome
MLH1 MSH2 MSH6



Li-Fraumeni syndrome
Muir-Torre syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
1 MeSH reference: D055653


COMMON
SIGNS
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer


Li-Fraumeni syndrome
Muir-Torre syndrome

Very frequent
- Acute leukemia
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves 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
- Adenoma sebaceum
- Skin tumors / lumps / epidermal cysts

Frequent
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer