Cytoscape Web
Click node...


7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
14 OMIM references -
17 associated genes
No signs/symptoms info
46,XY complete gonadal dysgenesis
Familial atrial fibrillation

CBX2 ABCC9
DHH GATA4
DMRT1 GATA5
DMRT2 GATA6
MAP3K1 GJA5
NR0B1 KCNA5
NR5A1 KCNE1
SRY KCNE2
KCNJ2
KCNQ1
NKX2-5
NPPA
NUP155
PITX2
SCN1B
SCN2B
SCN5A


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Familial atrial fibrillation
ABCC9 GATA4 GATA5 GATA6 GJA5 KCNA5
KCNE1 KCNE2 KCNJ2 KCNQ1 NKX2-5 NPPA
NUP155 PITX2 SCN1B SCN2B SCN5A



46,XY complete gonadal dysgenesis
Familial atrial fibrillation

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 cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
14 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



Familial atrial fibrillation

(no data available)