ODCs

Click node...

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Ocular albinism with congenital sensorineural deafness

Foveal hypoplasia - presenile cataract

MITF	(UniProt - OMIM)		PAX6	(UniProt - OMIM)
TYR	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF	(0.92)	PAX6

Citations in the biomedical literature:

Ocular albinism with congenital sensorineural deafness		Foveal hypoplasia - presenile cataract
	Synonym(s): - Waardenburg syndrome type 2 with ocular albinism		Synonym(s): - O'Donnell-Pappas syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: (no data available)		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 - No MeSH references		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
Ocular albinism with congenital sensorineural deafness
(no data available)