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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
45,X/46,XY mixed gonadal dysgenesis
Aneurysm - osteoarthritis syndrome

SRY SMAD3
TSPY1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SRY
(0.7)
SMAD3



Citations in the biomedical literature:


45,X/46,XY mixed gonadal dysgenesis
SRY TSPY1
Aneurysm - osteoarthritis syndrome
SMAD3



45,X/46,XY mixed gonadal dysgenesis
Aneurysm - osteoarthritis syndrome

Synonym(s):
- 45,X/46,XY MGD
- 45,X0/46,XY MGD
- 45,X0/46,XY mixed gonadal dysgenesis

Synonym(s):
- AOS
- Loeys-Dietz syndrome with osteoarthritis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic 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: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.