Features include always present findings: Inguinal hernia and Cryptorchidism; and common findings: Ambiguous genitalia, Perineal hypospadias, Tetralogy of Fallot, and Corpus cavernosum hypoplasia and others. 9 total HPO annotations.

GATA4 encodes GATA binding protein 4 (442 aa). Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function.

Testicular anomalies with or without congenital heart disease is associated with mutations in the GATA4 gene on chromosome 8.

The GATA4 protein participates in Expression of GATA4 in cardiogenesis, Expression of GATA4 in definitive endoderm, and Expression of GATA4 in lateral plate mesoderm pathways.

GATA4 is classified as a druggable target (Clinically Actionable, Enzyme, and Transcription Factor categories) with score 17.4.

Genetic testing for GATA4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for testicular anomalies with or without congenital heart disease has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 5 common features.

No clinical trials have been registered for testicular anomalies with or without congenital heart disease.

290 publications have been identified in PubMed for testicular anomalies with or without congenital heart disease. Research spans Review / Meta-Analysis (48%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (13%).