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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
1 sign/symptom
46,XY partial gonadal dysgenesis
Familial progressive cardiac conduction defect

GATA4 NKX2-5
MAP3K1 SCN1B
NR0B1 SCN5A
NR5A1 TRPM4
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Familial progressive cardiac conduction defect
NKX2-5 SCN1B SCN5A TRPM4



46,XY partial gonadal dysgenesis
Familial progressive cardiac conduction defect

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

Synonym(s):
- Familial Lenègre disease
- Familial Lev disease
- Familial Lev-Lenègre disease
- Familial PCCD
- Familial progressive heart block
- Hereditary bundle branch defect

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: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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

46,XY partial gonadal dysgenesis
Familial progressive cardiac conduction defect

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)


Frequent
- Cardiac rhythm disorder / arrhythmia