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

CBX2 BRCA1
DHH BRCA2
DMRT1 CHEK2
DMRT2 ELAC2
MAP3K1 EPHB2
NR0B1 HNF1B
NR5A1 HOXB13
SRY 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 complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Familial prostate cancer
BRCA1 BRCA2 CHEK2 ELAC2 EPHB2 HNF1B
HOXB13 MSMB MSR1 NBN RNASEL SRD5A2



46,XY complete gonadal dysgenesis
Familial prostate cancer

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

Synonym(s):
(no synonyms)

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 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: 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:
19 OMIM references -
1 MeSH reference: C537243

46,XY complete 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



Familial prostate cancer

(no data available)