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Moyamoya disease

4 OMIM references -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

Moyamoya disease

Li-Fraumeni syndrome

ACTA2	(UniProt - OMIM)		CHEK2	(UniProt - OMIM)
RNF213	(UniProt - OMIM)		TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTA2	(0.63)	TP53

Citations in the biomedical literature:

Moyamoya disease		Li-Fraumeni syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 4 OMIM references - 2 MeSH references: C536991 / D009072		External references: 3 OMIM references - 1 MeSH reference: D016864

Moyamoya disease		Li-Fraumeni syndrome
	Very frequent - Autosomal recessive inheritance - Vascular anomalies of skin / mucosae Frequent - Cerebral vascular anomalies - Dilated cerebral ventricles without hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus		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