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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Pulverulent cataract
46,XX ovotesticular disorder of sex development

CRYBB1 SOX9
CRYGC SRY
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAF
(0.79)
SOX9



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
46,XX ovotesticular disorder of sex development
SOX9 SRY



Pulverulent cataract
46,XX ovotesticular disorder of sex development

Synonym(s):
- Dusty cataract

Synonym(s):
- 46,XX ovotesticular DSD
- True hermaphroditism

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D050090

46,XX ovotesticular disorder of sex development

Very frequent
- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Bifid scrotum
- Horizontal folds on scrotum
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypospadias / epispadias / bent penis
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- True hermaphrodism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urogenital sinus
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Chromosomal or genetic anomaly


Pulverulent cataract

(no data available)