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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Familial thoracic aortic aneurysm and aortic dissection

GATA4 ACTA2
MAP3K1 FBN1
NR0B1 MYH11
NR5A1 MYLK
SRY PRKG1
WT1 SMAD3
WWOX TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



46,XY partial gonadal dysgenesis
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- Familial TAAD

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):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
8 OMIM references -
No MeSH references

46,XY partial gonadal dysgenesis

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Familial thoracic aortic aneurysm and aortic dissection

(no data available)