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Microphthalmia - cataract

4 OMIM references -
4 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Isolated aniridia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Microphthalmia - cataract

Isolated aniridia

CRYBA4	(UniProt - OMIM)		PAX6	(UniProt - OMIM)
SIX6	(UniProt - OMIM)
TMEM114	(UniProt - OMIM)
VSX2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VSX2	(0.82)	PAX6

Citations in the biomedical literature:

Microphthalmia - cataract		Isolated aniridia
	Synonym(s): - Congenital cataract - microphthalmia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Microphthalmia - cataract		Isolated aniridia
	Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Coloboma of iris - Retinoschisis / retinal / chorioretinal coloboma		Very frequent - Aniridia / iris hypoplasia - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma