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5 OMIM references -
7 associated genes
9 signs/symptoms
COMMON GENES: 4
PROTEIN INTERACTIONS: 2
7 OMIM references -
8 associated genes
5 signs/symptoms
46,XY partial gonadal dysgenesis
46,XY complete gonadal dysgenesis

GATA4 CBX2
MAP3K1 DHH
NR0B1 DMRT1
NR5A1 DMRT2
SRY MAP3K1
WT1 NR0B1
WWOX NR5A1
SRY


COMMON
GENES
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NR0B1
GATA4
(0.95)
(0.76)
NR5A1
NR5A1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2



46,XY partial gonadal dysgenesis
46,XY complete gonadal dysgenesis

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

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

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 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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
7 OMIM references -
No MeSH references

46,XY partial gonadal dysgenesis
46,XY complete gonadal dysgenesis

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


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