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Testicular regression syndrome
1 OMIM reference -
1 associated gene
12 connected diseases
10 signs/symptoms
Disease Type of connection
45,X / 46,XY mixed gonadal dysgenesis
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
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
Synonym(s):
- ETRS
- Embryonic testicular regression syndrome
- TRS
- Vanishing testes syndrome
- Vanishing testis syndrome
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 -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SRY Q05066480000
Very frequent
- Ambiguous genitalia
- Autosomal recessive inheritance
- Late puberty / hypogonadism / hypogenitalism
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Male pseudohermaphrodism / lack of virilisation
- Micropenis / small penis / agenesis
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Face / facial anomalies