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Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
40 signs/symptoms

Li-Fraumeni syndrome

Bloom syndrome

CHEK2	(UniProt - OMIM)		BLM	(UniProt - OMIM)
TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.9)	BLM

Citations in the biomedical literature:

Li-Fraumeni syndrome		Bloom syndrome
	Synonym(s): (no synonyms)		Synonym(s): - BSyn

	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 hematologic disease - Rare immune disease - Rare oncologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

	External references: 3 OMIM references - 1 MeSH reference: D016864		External references: 1 OMIM reference - 1 MeSH reference: D001816


COMMON SIGNS	- Acute leukemia - Lymphoma - Neoplasms / tumors

Li-Fraumeni syndrome		Bloom syndrome
	Very frequent - 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 - 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 - Acute diarrhea - Anomalies of nose and olfaction - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal recessive inheritance - Chromosome breakage - Delayed bone age - Dolichocephaly / scaphocephaly - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Flat cheek bones / malar hypoplasia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Irregular / in bands / reticular skin hyperpigmentation - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Repeat respiratory infections - Short stature / dwarfism / nanism Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Face / facial anomalies - Hypoplastic mandibula / partial absence of the mandibula - Short / small nose - Skin photosensitivity - Telangiectasiae of the skin Occasional - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anodontia / oligodontia / hypodontia - Digestive neoplasm / tumor / carcinoma / cancer - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperhidrosis / increased sweating - Ichthyosis / ichthyosiform dermatitis - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular / patchy skin hypopigmentation - Microcephaly - Prominent / bat ears - Sacral sinus / dimple - Skin tumors / lumps / epidermal cysts - Sterility / hypofertility - Syndactyly of fingers / interdigital palm - Upper limb polydactyly / hexadactyly