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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Primary peritoneal carcinoma
1 associated gene
9 signs/symptoms
46,XY partial gonadal dysgenesis
Primary peritoneal carcinoma

GATA4
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)
WT1
(UniProt - OMIM)
WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAP3K1
(0.63)
BRCA1


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Primary peritoneal carcinoma
BRCA1



46,XY partial gonadal dysgenesis
Primary peritoneal carcinoma

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- EOPPC
- Extra-ovarian primary peritoneal carcinoma
- PPC
- Primary peritoneal serous carcinoma
- Serous surface papillary carcinoma
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: adulthood
Average age of death: normal
Type of inheritance: unknown
External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)

46,XY partial gonadal dysgenesis
Primary peritoneal carcinoma

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
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Very frequent
- Acute abdominal pain / colic
- Anomalies of the abdominal wall
- Constipation
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Peritoneal diseases
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Early death / lethality