Cytoscape Web
Click node...


5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
17q11 microdeletion syndrome

GATA4 NF1
MAP3K1 RNF135
NR0B1 SUZ12
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
WT1
(0.63)
(0.63)
SUZ12
SUZ12



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
17q11 microdeletion syndrome
NF1 RNF135 SUZ12



46,XY partial gonadal dysgenesis
17q11 microdeletion syndrome

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

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion 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 circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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

46,XY partial gonadal dysgenesis

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)


17q11 microdeletion syndrome

(no data available)