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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
10 OMIM references -
12 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Left ventricular noncompaction

GATA4 ACTC1
MAP3K1 DTNA
NR0B1 LDB3
NR5A1 LMNA
SRY MIB1
WT1 MYBPC3
WWOX MYH7
MYH7B
PRDM16
TAZ
TNNT2
TPM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WWOX
(0.63)
(0.49)
MYH7
LMNA



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Left ventricular noncompaction
ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
MYH7 MYH7B PRDM16 TAZ TNNT2 TPM1



46,XY partial gonadal dysgenesis
Left ventricular noncompaction

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

Synonym(s):
- LVNC
- Left ventricular hypertrabeculation
- Spongy myocardium

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:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
10 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)


Left ventricular noncompaction

(no data available)