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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 2
9 OMIM references -
8 associated genes
No signs/symptoms info
46,XY complete gonadal dysgenesis
Colobomatous microphthalmia

CBX2 ABCB6
DHH GDF3
DMRT1 GDF6
DMRT2 SHH
MAP3K1 SOX2
NR0B1 STRA6
NR5A1 TENM3
SRY VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBX2
NR5A1
(0.63)
(0.52)
SOX2
SOX2



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2



46,XY complete gonadal dysgenesis
Colobomatous microphthalmia

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

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst

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 eye disease
- Rare genetic 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:
(no data available)

External references:
7 OMIM references -
No MeSH references
External references:
9 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



Colobomatous microphthalmia

(no data available)