ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
8 signs/symptoms

Foveal hypoplasia - presenile cataract

Isolated aniridia

PAX6

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Isolated aniridia
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		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


COMMON SIGNS	- Autosomal dominant inheritance - Cataract / lens opacification - Nystagmus

Foveal hypoplasia - presenile cataract		Isolated aniridia
	Very frequent - Anomalies of eyes and vision - Diffuse / generalised skin hyperpigmentation / melanoderma - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint		Very frequent - Aniridia / iris hypoplasia - Macular dystrophy / absence / hypoplasia of the macula - Visual loss / blindness / amblyopia Frequent - Corneal clouding / opacity / vascularisation - Glaucoma