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46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
1 OMIM reference -
1 associated gene
1 connected disease
11 signs/symptoms
Disease Type of connection
Familial prostate cancer
Synonym(s):
- Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
SRD5A2 P31213607306
Very frequent
- Ambiguous genitalia
- Autosomal recessive inheritance
- Bifid scrotum
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypospadias / epispadias / bent penis
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urogenital sinus