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7 OMIM references -
8 associated genes
5 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
3 OMIM references -
4 associated genes
16 signs/symptoms
46,XY complete gonadal dysgenesis
46,XX gonadal dysgenesis

CBX2 BMP15
DHH FSHR
DMRT1 NR5A1
DMRT2 PSMC3IP
MAP3K1
NR0B1
NR5A1
SRY


COMMON
GENES
NR5A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NR0B1
(0.95)
NR5A1



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
46,XX gonadal dysgenesis
BMP15 FSHR PSMC3IP



46,XY complete gonadal dysgenesis
46,XX gonadal dysgenesis

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

Synonym(s):
- 46,XX complete gonadal dysgenesis
- 46,XX ovarian dysgenesis
- 46,XX pure gonadal dysgenesis
- FSH-RO
- Follicular stimulating hormone-resistant ovaries
- Hypergonadotropic ovarian dysgenesis
- XX female gonadal dysgenesis
- XX-GD

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 developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric 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: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D023961


COMMON
SIGNS
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- X-linked recessive inheritance


46,XY complete gonadal dysgenesis
46,XX gonadal dysgenesis

Very frequent
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia



Very frequent
- Autosomal dominant inheritance
- Primary amenorrhea
- Sterility / hypofertility

Frequent
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hearing loss / hypoacusia / deafness
- Long hand / arachnodactyly
- Lung fibrosis
- Metabolic anomalies
- Microcephaly
- Precocious menopause / secondary amenorrhea
- Short stature / dwarfism / nanism