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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Ebstein malformation
1 OMIM reference -
1 associated gene
19 signs/symptoms
46,XY partial gonadal dysgenesis
Ebstein malformation

GATA4
(UniProt - OMIM)
 MYH7
(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)
WWOX
(0.63)
MYH7


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Ebstein malformation
MYH7



46,XY partial gonadal dysgenesis
Ebstein malformation

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- Ebstein anomaly of the tricuspid valve
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 surgical cardiac 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: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
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
Ebstein malformation

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
- Asthenia / fatigue / weakness
- Atrial septal defect / interauricular communication
- Autosomal recessive inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Prematurity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- tricuspid valve atresia / stenosis / narrowing
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly

Frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac rhythm disorder / arrhythmia
- Cardiac septal defect
- Patent ductus arteriosus
- Thoracic / chest pain

Occasional
- Arterial embolism / thrombosis
- Arterial pulse abolition
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Endocardium anomalies / fibroelastosis / endocarditis
- Heart / cardiac failure
- Transient cerebral ischemia / stroke