Cytoscape Web
Click node...

46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Renal coloboma syndrome
1 OMIM reference -
1 associated gene
14 signs/symptoms
46,XY partial gonadal dysgenesis
Renal coloboma syndrome

GATA4
(UniProt - OMIM)
 PAX2
(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)
WT1
(0.62)
PAX2


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Renal coloboma syndrome
PAX2



46,XY partial gonadal dysgenesis
Renal coloboma syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Coloboma of optic nerve with renal disease
- Papillo-renal 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 developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare renal 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:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY partial gonadal dysgenesis
Renal coloboma syndrome

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
- Autosomal dominant inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Renal failure

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Multicystic kidney / renal dysplasia
- Myopia
- Vesicorenal / vesicoureteral reflux
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of the optic nerve
- Hearing loss / hypoacusia / deafness
- Hyperextensible joints / articular hyperlaxity
- Nystagmus
- Retinoschisis / retinal / chorioretinal coloboma
- Strabismus / squint