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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
8 OMIM references -
10 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Osteogenesis imperfecta type 3

GATA4 BMP1
MAP3K1 COL1A1
NR0B1 COL1A2
NR5A1 CREB3L1
SRY CRTAP
WT1 LEPRE1
WWOX PPIB
SERPINF1
SERPINH1
WNT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WWOX
(0.63)
(0.63)
LEPRE1
PPIB



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Osteogenesis imperfecta type 3
BMP1 COL1A1 COL1A2 CREB3L1 CRTAP LEPRE1
PPIB SERPINF1 SERPINH1 WNT1



46,XY partial gonadal dysgenesis
Osteogenesis imperfecta type 3

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

Synonym(s):
- OI type 3
- Progressive deforming osteogenesis imperfecta
- Severe osteogenesis imperfecta

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic 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: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
8 OMIM references -
1 MeSH reference: C536044

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)


Osteogenesis imperfecta type 3

(no data available)