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5 OMIM references -
7 associated genes
9 signs/symptoms
COMMON GENES: 1
11 OMIM references -
12 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

GATA4 ACTN4
MAP3K1 ADCK4
NR0B1 ARHGAP24
NR5A1 CD2AP
SRY INF2
WT1 MYO1E
WWOX NPHS1
NPHS2
PLCE1
PTPRO
TRPC6
WT1


COMMON
GENES
WT1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ACTN4 ADCK4 ARHGAP24 CD2AP INF2 MYO1E
NPHS1 NPHS2 PLCE1 PTPRO TRPC6



46,XY partial gonadal dysgenesis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

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

Synonym(s):
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

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 genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the genitourinary system -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
11 OMIM references -
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)


Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

(no data available)