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

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


COMMON
GENES
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

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

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

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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

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

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

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



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)