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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 2
4 OMIM references -
13 associated genes
No signs/symptoms info
46,XY complete gonadal dysgenesis
Hereditary breast and ovarian cancer syndrome

CBX2 BARD1
DHH BRCA1
DMRT1 BRCA2
DMRT2 BRIP1
MAP3K1 CHEK2
NR0B1 MRE11A
NR5A1 NBN
SRY PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
NR5A1
(0.63)
(0.63)
BRCA1
BARD1



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



46,XY complete gonadal dysgenesis
Hereditary breast and ovarian cancer syndrome

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 gynecologic or obstetric disease
- Rare oncologic 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:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

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



Hereditary breast and ovarian cancer syndrome

(no data available)