ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Isolated aniridia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.79)	PAX6

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Isolated aniridia

	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 developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood 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

Isolated aniridia
	Very frequent - Aniridia / iris hypoplasia - Autosomal dominant inheritance - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)