Cytoscape Web
Click node...


5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
19 OMIM references -
12 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Familial prostate cancer

GATA4 BRCA1
MAP3K1 BRCA2
NR0B1 CHEK2
NR5A1 ELAC2
SRY EPHB2
WT1 HNF1B
WWOX HOXB13
MSMB
MSR1
NBN
RNASEL
SRD5A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.63)
BRCA1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Familial prostate cancer
BRCA1 BRCA2 CHEK2 ELAC2 EPHB2 HNF1B
HOXB13 MSMB MSR1 NBN RNASEL SRD5A2



46,XY partial gonadal dysgenesis
Familial prostate cancer

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

Synonym(s):
(no synonyms)

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 genetic disease
- Rare oncologic disease
- Rare urogenital disease

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

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:
19 OMIM references -
1 MeSH reference: C537243

46,XY partial 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)


Familial prostate cancer

(no data available)