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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 3
12 associated genes
No signs/symptoms info
46,XY complete gonadal dysgenesis
Gliosarcoma

CBX2 EGFR
DHH FGFR1
DMRT1 FGFR3
DMRT2 IDH1
MAP3K1 LZTR1
NR0B1 MGMT
NR5A1 NFKBIA
SRY PPARG
SEPT14
TACC1
TACC3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
NR0B1
MAP3K1
(0.63)
(0.63)
(0.52)
TP53
PPARG
NFKBIA



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Gliosarcoma
EGFR FGFR1 FGFR3 IDH1 LZTR1 MGMT
NFKBIA PPARG SEPT14 TACC1 TACC3 TP53



46,XY complete gonadal dysgenesis
Gliosarcoma

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 neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: adulthood
Average age of death: -
Type of inheritance: sporadic

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



Gliosarcoma

(no data available)