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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
13 signs/symptoms
46,XY partial gonadal dysgenesis
Multiple endocrine neoplasia type 1

GATA4 CDKN1A
MAP3K1 CDKN1B
NR0B1 CDKN2B
NR5A1 CDKN2C
SRY MEN1
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WT1
(0.63)
MEN1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1



46,XY partial gonadal dysgenesis
Multiple endocrine neoplasia type 1

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

Synonym(s):
- MEN 1
- Wermer syndrome

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 endocrine disease
- Rare gastroenterologic disease
- Rare genetic 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: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018761

46,XY partial gonadal dysgenesis
Multiple endocrine neoplasia type 1

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
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- Hypercalcemia
- Hyperparathyroidy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Neoplasms / tumors
- Parathyroids anomalies
- Structural anomalies of the pancreas

Frequent
- Cortico-adrenal hyperplasia / hypersecretion
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Thyroid anomalies
- Xanthomas / lipomas