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1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
4 OMIM references -
2 associated genes
1 sign/symptom
46,XX ovotesticular disorder of sex development
Familial hypospadias

SOX9 AR
SRY MAMLD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SRY
(0.87)
AR



Citations in the biomedical literature:


46,XX ovotesticular disorder of sex development
SOX9 SRY
Familial hypospadias
AR MAMLD1



46,XX ovotesticular disorder of sex development
Familial hypospadias

Synonym(s):
- 46,XX ovotesticular DSD
- True hermaphroditism

Synonym(s):
(no synonyms)

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 genetic disease
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D050090
External references:
4 OMIM references -
No MeSH references


COMMON
SIGNS
- Hypospadias / epispadias / bent penis


46,XX ovotesticular disorder of sex development
Familial hypospadias

Very frequent
- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Bifid scrotum
- Horizontal folds on scrotum
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- True hermaphrodism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urogenital sinus
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Chromosomal or genetic anomaly


(no more signs)