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46,XX testicular disorder of sex development

3 OMIM references -
3 associated genes
5 signs/symptoms

COMMON GENES: 1

45,X/46,XY mixed gonadal dysgenesis

2 associated genes
No signs/symptoms info

46,XX testicular disorder of sex development

45,X/46,XY mixed gonadal dysgenesis

SOX3	(UniProt - OMIM)		SRY	(UniProt - OMIM)
SOX9	(UniProt - OMIM)		TSPY1	(UniProt - OMIM)
SRY	(UniProt - OMIM)


COMMON GENES	SRY

Citations in the biomedical literature:

46,XX testicular disorder of sex development		45,X/46,XY mixed gonadal dysgenesis
	Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome		Synonym(s): - 45,X/46,XY MGD - 45,X0/46,XY MGD - 45,X0/46,XY mixed gonadal dysgenesis

	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 endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital 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: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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

46,XX testicular disorder of sex development
	Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Late puberty / hypogonadism / hypogenitalism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - X-linked recessive inheritance
45,X/46,XY mixed gonadal dysgenesis
(no data available)