Cytoscape Web
Click node...


5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 3
46,XY partial gonadal dysgenesis
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

GATA4 CTNNA3
MAP3K1 DSC2
NR0B1 DSG2
NR5A1 DSP
SRY JUP
WT1 LMNA
WWOX PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WWOX
WWOX
(0.63)
(0.63)
(0.49)
DSP
JUP
LMNA



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



46,XY partial gonadal dysgenesis
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

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

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
- Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, classic form

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 cardiac disease
- Rare genetic disease

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

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:
No 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 isolated arrhythmogenic ventricular dysplasia, right dominant form

(no data available)