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UV-sensitive syndrome

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 3

Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

UV-sensitive syndrome

Li-Fraumeni syndrome

ERCC6	(UniProt - OMIM)		CHEK2	(UniProt - OMIM)
ERCC8	(UniProt - OMIM)		TP53	(UniProt - OMIM)
UVSSA	(UniProt - OMIM)


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

Citations in the biomedical literature:

UV-sensitive syndrome		Li-Fraumeni syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Neoplasms -

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

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

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
UV-sensitive syndrome
(no data available)