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

GATA4 SOX3
MAP3K1 SOX9
NR0B1 SRY
NR5A1
SRY
WT1
WWOX


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 partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
46,XX testicular disorder of sex development
SOX3 SOX9



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

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

Synonym(s):
- 46,XX testicular DSD
- De la Chapelle syndrome
- XX, male 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 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: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Ambiguous genitalia


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

Very frequent
- 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
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance