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5 OMIM references -
7 associated genes
9 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
11 signs/symptoms
46,XY partial gonadal dysgenesis
Nephroblastoma

GATA4 DIS3L2
MAP3K1 H19
NR0B1 POU6F2
NR5A1 WT1
SRY
WT1
WWOX


COMMON
GENES
WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
(0.63)
H19



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Nephroblastoma
DIS3L2 H19 POU6F2



46,XY partial gonadal dysgenesis
Nephroblastoma

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

Synonym(s):
- Renal embryonic tumor
- Wilms tumor

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 genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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: 1-9 / 100 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: D009396

46,XY partial gonadal dysgenesis
Nephroblastoma

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)


Very frequent
- Acute abdominal pain / colic
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Neoplasms / tumors

Occasional
- Aniridia / iris hypoplasia
- Chronic arterial hypertension
- Fever / chilling
- Hematuria / microhematuria
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Weight loss / loss of appetite / break in weight curve / general health alteration