General Information of Disease (ID: DISFCC43)

Disease Name Patent ductus arteriosus 3
Synonyms PDA3; patent ductus arteriosus 3; PRDM6 patent ductus arteriosus; patent ductus arteriosus caused by mutation in PRDM6
Definition Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.
Disease Hierarchy
DIS9P8YS: Patent ductus arteriosus
DISFCC43: Patent ductus arteriosus 3
Disease Identifiers
MONDO ID
MONDO_0024266
UMLS CUI
C4310753
OMIM ID
617039
MedGen ID
934720

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRDM6 OTKY12D9 Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. Am J Hum Genet. 2016 Jun 2;98(6):1082-1091. doi: 10.1016/j.ajhg.2016.03.022. Epub 2016 May 12.