ODCs

Click node...

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
5 signs/symptoms

Foveal hypoplasia - presenile cataract

46,XX testicular disorder of sex development


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.52)	SOX3

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		46,XX testicular disorder of sex development
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - 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: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D058531

Foveal hypoplasia - presenile cataract		46,XX testicular disorder of sex development
	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 - Abnormal / polycystic ovaries - Ambiguous genitalia - Late puberty / hypogonadism / hypogenitalism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - X-linked recessive inheritance