ODCs

Cytoscape Web

Click node...

Foveal hypoplasia - presenile cataract

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial hypospadias

4 OMIM references -
2 associated genes
1 sign/symptom

Foveal hypoplasia - presenile cataract

Familial hypospadias

PAX6	(UniProt - OMIM)		AR	(UniProt - OMIM)
			MAMLD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.87)	AR

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Familial hypospadias
	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 genetic disease - Rare urogenital 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references

Foveal hypoplasia - presenile cataract		Familial hypospadias
	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		Very frequent - Hypospadias / epispadias / bent penis