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Foveal hypoplasia - presenile cataract

1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
6 associated genes
12 signs/symptoms

Foveal hypoplasia - presenile cataract

Peters anomaly

PAX6	(UniProt - OMIM)		CYP1B1	(UniProt - OMIM)
			FOXC1	(UniProt - OMIM)
			HDAC9	(UniProt - OMIM)
			PAX6	(UniProt - OMIM)
			PITX2	(UniProt - OMIM)
			TGFB2	(UniProt - OMIM)


COMMON GENES	PAX6

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Peters anomaly
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - Peters congenital glaucoma

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): (no data available)

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537884


COMMON SIGNS	- Anomalies of eyes and vision - Cataract / lens opacification - Nystagmus

Foveal hypoplasia - presenile cataract		Peters anomaly
	Very frequent - Autosomal dominant inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint		Very frequent - Autosomal recessive inheritance - Microcornea Frequent - Corneal dystrophy Occasional - Anomalies of teeth and dentition - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus - Corneal clouding / opacity / vascularisation - Dental malocclusion - Hypoplastic mandibula / partial absence of the mandibula