ODCs

Cytoscape Web

Click node...

45,X/46,XY mixed gonadal dysgenesis

2 associated genes
No signs/symptoms info

COMMON GENES: 1

46,XX testicular disorder of sex development

3 OMIM references -
3 associated genes
5 signs/symptoms

45,X/46,XY mixed gonadal dysgenesis

46,XX testicular disorder of sex development

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


COMMON GENES	SRY

Citations in the biomedical literature:

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

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic		Epidemiological data: (no data available)

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

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)