ODCs

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3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

4 OMIM references -
2 associated genes
15 signs/symptoms

Li-Fraumeni syndrome

Focal facial dermal dysplasia

CHEK2	(UniProt - OMIM)		CYP26C1	(UniProt - OMIM)
TP53	(UniProt - OMIM)		TWIST2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.56)	TWIST2

Citations in the biomedical literature:

Li-Fraumeni syndrome		Focal facial dermal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Bitemporal aplasia cutis congenital - Brauer syndrome - FFDD type I - Hereditary symmetrical aplastic nevi of temples

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D016864		External references: 4 OMIM references - 2 MeSH references: C536385 / C537068


COMMON SIGNS	- Autosomal dominant inheritance

Li-Fraumeni syndrome		Focal facial dermal 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 - Abnormal fat distribution / lipodystrophy - Abnormal scarring / cheloids / hypertrophic scars - Anomalies of eyelids, eyelashes and lacrimal system - Facial dysmorphism - Irregular / in bands / reticular skin hyperpigmentation - Muscle anomalies - Rippled skin - Skin hypoplasia / aplasia / atrophy Frequent - Anomalies of mouth, lip and philtrum - Anomalies of nose and olfaction - Depressed nasal bridge - Eyebrows anomalies - Pointed chin - Puffy eyelids