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5 OMIM references -
7 associated genes
9 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
2 associated genes
19 signs/symptoms
46,XY partial gonadal dysgenesis
Desmoplastic small round cell tumor

GATA4 EWSR1
MAP3K1 WT1
NR0B1
NR5A1
SRY
WT1
WWOX


COMMON
GENES
WT1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Desmoplastic small round cell tumor
EWSR1



46,XY partial gonadal dysgenesis
Desmoplastic small round cell tumor

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

Synonym(s):
- DSRCT

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 abdominal surgical disease
- Rare oncologic 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: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: sporadic

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D058405


COMMON
SIGNS
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testis anomalies


46,XY partial gonadal dysgenesis
Desmoplastic small round cell tumor

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

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


Very frequent
- Acute abdominal pain / colic
- Digestive neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Peritoneal diseases
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Frequent
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intestinal obstruction / ileus
- Mediastinal / hilar adenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Anaemia
- Ascitis
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy