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Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Cleidocranial dysplasia

2 OMIM references -
1 associated gene
40 signs/symptoms

Li-Fraumeni syndrome

Cleidocranial dysplasia

CHEK2	(UniProt - OMIM)		RUNX2	(UniProt - OMIM)
TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	RUNX2

Citations in the biomedical literature:

Li-Fraumeni syndrome		Cleidocranial dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Cleidocranial dysostosis

	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 odontologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D016864		External references: 2 OMIM references - 1 MeSH reference: D002973


COMMON SIGNS	- Autosomal dominant inheritance

Li-Fraumeni syndrome		Cleidocranial dysplasia
	Very frequent - Acute leukemia - 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 - Anomalies of teeth and dentition - Clavicle absent / abnormal - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Narrow / sloping shoulders - Repeat respiratory infections - Short stature / dwarfism / nanism - Supernumerary teeth / polyodontia - Wormian bones Frequent - Anomalies of ear and hearing - Anomalies of the ribs - Chronic / relapsing otitis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Hearing loss / hypoacusia / deafness - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Sacro-coccyx / sacrum anomaly - Short hand / brachydactyly - Sloping forehead - Small face Occasional - Apnea / sleep apnea - Brachycephaly / flat occiput - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Genu valgum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Motor deficit / trouble - Mutiple fractures / bone fragility - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Tapered fingers - Thumb anomalies (excluding hypoplasia)