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7 OMIM references -
8 associated genes
5 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
46,XY complete gonadal dysgenesis
46,XX ovotesticular disorder of sex development

CBX2 SOX9
DHH SRY
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


COMMON
GENES
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NR5A1
(0.86)
SOX9



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
46,XX ovotesticular disorder of sex development
SOX9



46,XY complete gonadal dysgenesis
46,XX ovotesticular disorder of sex development

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

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

Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease
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 -
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: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Abnormal / polycystic ovaries


46,XY complete gonadal dysgenesis
46,XX ovotesticular disorder of sex development

Very frequent
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



Very frequent
- Ambiguous genitalia
- Bifid scrotum
- Horizontal folds on scrotum
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypospadias / epispadias / bent penis
- 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