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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 5
12 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Giant cell glioblastoma

GATA4 EGFR
MAP3K1 FGFR1
NR0B1 FGFR3
NR5A1 IDH1
SRY LZTR1
WT1 MGMT
WWOX NFKBIA
PPARG
SEPT14
TACC1
TACC3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WT1
MAP3K1
NR0B1
MAP3K1
(0.89)
(0.86)
(0.63)
(0.63)
(0.52)
TP53
TP53
TP53
PPARG
NFKBIA



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Giant cell glioblastoma
EGFR FGFR1 FGFR3 IDH1 LZTR1 MGMT
NFKBIA PPARG SEPT14 TACC1 TACC3 TP53



46,XY partial gonadal dysgenesis
Giant cell glioblastoma

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

Synonym(s):
(no synonyms)

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

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


Giant cell glioblastoma

(no data available)