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46,XX testicular disorder of sex development

3 OMIM references -
3 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated aniridia

1 OMIM reference -
1 associated gene
8 signs/symptoms

46,XX testicular disorder of sex development

Isolated aniridia

SOX3	(UniProt - OMIM)		PAX6	(UniProt - OMIM)
SOX9	(UniProt - OMIM)
SRY	(UniProt - OMIM)


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

Citations in the biomedical literature:

46,XX testicular disorder of sex development		Isolated aniridia
	Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

46,XX testicular disorder of sex development		Isolated aniridia
	Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Late puberty / hypogonadism / hypogenitalism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - X-linked recessive inheritance		Very frequent - Aniridia / iris hypoplasia - Autosomal dominant inheritance - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma