ODCs

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4 OMIM references -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Moyamoya disease

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

ACTA2	(UniProt - OMIM)		EP300	(UniProt - OMIM)
RNF213	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTA2	(0.65)	EP300

Citations in the biomedical literature:

Moyamoya disease		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: (no data available)

	External references: 4 OMIM references - 2 MeSH references: C536991 / D009072		External references: 1 OMIM reference - No MeSH references

Moyamoya disease
	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
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)