Details of Disease

General Information of Disease (ID: DISVX3P2)

Disease Name Testicular anomalies with or without congenital heart disease
Synonyms TACHD; testicular anomalies with or without congenital heart disease
Disease Hierarchy
DISYKSRF: Genetic disease
DISMNH0C: 46,XY partial gonadal dysgenesis
DISVX3P2: Testicular anomalies with or without congenital heart disease
Disease Identifiers
MONDO ID
MONDO_0014239
UMLS CUI
C3809858
OMIM ID
615542
MedGen ID
816188

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GATA4 TT1VDN2 Limited Biomarker [1]
GATA4 TT1VDN2 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATA4 OTQHWAZG Definitive Autosomal dominant [2]
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References

1 Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1597-602. doi: 10.1073/pnas.1010257108. Epub 2011 Jan 10.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.