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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
11 signs/symptoms
46,XY complete gonadal dysgenesis
Nephroblastoma

CBX2 DIS3L2
DHH H19
DMRT1 POU6F2
DMRT2 WT1
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBX2
(0.72)
DIS3L2



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Nephroblastoma
DIS3L2 H19 POU6F2 WT1



46,XY complete gonadal dysgenesis
Nephroblastoma

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

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

Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- 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: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
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:
7 OMIM references -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: D009396

46,XY complete gonadal dysgenesis
Nephroblastoma

Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



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