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5 OMIM references -
7 associated genes
9 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 3
1 OMIM reference -
9 associated genes
13 signs/symptoms
46,XY partial gonadal dysgenesis
Tetralogy of Fallot

GATA4 CITED2
MAP3K1 GATA4
NR0B1 GATA5
NR5A1 GATA6
SRY GDF1
WT1 GJA5
WWOX JAG1
NKX2-5
ZFPM2


COMMON
GENES
GATA4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
GATA4
NR5A1
(0.96)
(0.9)
(0.76)
NKX2-5
ZFPM2
GATA4



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Tetralogy of Fallot
CITED2 GATA5 GATA6 GDF1 GJA5
JAG1 NKX2-5 ZFPM2



46,XY partial gonadal dysgenesis
Tetralogy of Fallot

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

Synonym(s):
(no synonyms)

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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013771

46,XY partial gonadal dysgenesis
Tetralogy of Fallot

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
- Autosomal dominant inheritance
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes