ODCs

Click node...

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

Morning glory syndrome


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		Morning glory syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Ectasic coloboma - Volubilis 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 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: unknown

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

Morning glory syndrome
	Very frequent - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinitis pigmentosa / retinal pigmentary changes - Strabismus / squint - Visual loss / blindness / amblyopia Occasional - Cataract / lens opacification - Coloboma of the optic nerve - Nystagmus - Retinal detachment
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)