ODCs

Click node...

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

COMMON GENES: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Autosomal dominant keratitis

Foveal hypoplasia - presenile cataract

PAX6

Citations in the biomedical literature:

Autosomal dominant keratitis		Foveal hypoplasia - presenile cataract
	Synonym(s): - Hereditary keratitis		Synonym(s): - O'Donnell-Pappas syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Diseases of the eye and adnexa -

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

	External references: 1 OMIM reference - 1 MeSH reference: C537022		External references: 1 OMIM reference - No MeSH references

Foveal hypoplasia - presenile cataract
	Very frequent - Anomalies of eyes and vision - Autosomal dominant inheritance - Cataract / lens opacification - Diffuse / generalised skin hyperpigmentation / melanoderma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint
Autosomal dominant keratitis
(no data available)