ODCs

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Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

1 OMIM reference -
3 associated genes
24 signs/symptoms

Li-Fraumeni syndrome

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

CHEK2	(UniProt - OMIM)	ACSL4	(UniProt - OMIM)
TP53	(UniProt - OMIM)	AMMECR1	(UniProt - OMIM)
		KCNE1L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	ACSL4

Citations in the biomedical literature:

Li-Fraumeni syndrome		Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
	Synonym(s): (no synonyms)		Synonym(s): - AMME complex - AMME syndrome - ATS-MR

	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 hematologic disease - Rare neurologic 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: - Average age of death: - Type of inheritance: x-linked recessive

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

Li-Fraumeni syndrome		Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
	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 - Anteverted nares / nostrils - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hair and scalp anomalies - Hematuria / microhematuria - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface - Proteinuria - Renal glomerular defect / glomerulopathy - X-linked dominant inheritance Frequent - Hearing loss / hypoacusia / deafness - Hypotonia - Red cell structure / shape anomalies - Renal failure - Tapered fingers - Thick lips - Thin / retracted lips Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Metaphyseal anomaly - Myopia - Patent ductus arteriosus - Strabismus / squint - Supernumerary teeth / polyodontia