ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
1 sign/symptom

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Pancreatic hypoplasia - diabetes - congenital heart disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.73)	GATA6

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Pancreatic hypoplasia - diabetes - congenital heart disease
	Synonym(s): (no synonyms)		Synonym(s): - Yorifuji-Okuno syndrome

	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 (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

Pancreatic hypoplasia - diabetes - congenital heart disease
	Very frequent - Stillbirth / neonatal death
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)