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7 OMIM references -
8 associated genes
5 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
3 OMIM references -
3 associated genes
5 signs/symptoms
46,XY complete gonadal dysgenesis
46,XX testicular disorder of sex development

CBX2 SOX3
DHH SOX9
DMRT1 SRY
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 testicular disorder of sex development
SOX3 SOX9



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

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

Synonym(s):
- 46,XX testicular DSD
- De la Chapelle syndrome
- XX, male syndrome

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 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:
(no data available)

External references:
7 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D058531


COMMON
SIGNS
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance


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

Very frequent
- Male pseudohermaphrodism / lack of virilisation



Very frequent
- Ambiguous genitalia