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45,X/46,XY mixed gonadal dysgenesis
2 associated genes
13 connected diseases
No signs/symptoms info
Disease Type of connection
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Partial chromosome Y deletion
Testicular regression syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- 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 gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

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
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
SRY Q05066480000
TSPY1 Q01534480100
No signs/symptoms info available.