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Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Schimke immuno-osseous dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

Li-Fraumeni syndrome

Schimke immuno-osseous dysplasia

CHEK2	(UniProt - OMIM)		SMARCAL1	(UniProt - OMIM)
TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	SMARCAL1

Citations in the biomedical literature:

Li-Fraumeni syndrome		Schimke immuno-osseous dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Schimke syndrome - Spondyloepiphyseal dysplasia - nephrotic syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare odontologic disease - Rare renal disease

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

	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: child / adolescent Type of inheritance: autosomal recessive

	External references: 3 OMIM references - 1 MeSH reference: D016864		External references: 1 OMIM reference - 1 MeSH reference: C536629

Li-Fraumeni syndrome		Schimke immuno-osseous dysplasia
	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		Very frequent - Abnormal vertebral size / shape - Anaemia - Autosomal recessive inheritance - Complete / partial microdontia - Depressed nasal bridge - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intrauterine growth retardation - Long / large / bulbous nose - Lordosis - Lymphopenia - Nephrotic syndrome - Pigmented naevi / naevus pigmentosus / lentigo - Proteinuria - Renal glomerular defect / glomerulopathy - Short neck - Short stature / dwarfism / nanism - T-cell deficiency / cellular immunity deficiency - Thrombocytopenia / thrombopenia Frequent - Cafe-au-lait spot