Details of Disease

General Information of Disease (ID: DISUZERZ)

• Disease Name: Obsolete familial patent arterial duct
• Definition: OBSOLETE. Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISUZERZ: Obsolete familial patent arterial duct

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRDM6	OTKY12D9	Supportive	Autosomal dominant	[1]
TFAP2B	OTR1T8E9	Supportive	Autosomal dominant	[2]

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.
• [2] Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. Pediatr Cardiol. 2011 Oct;32(7):958-65. doi: 10.1007/s00246-011-0024-7. Epub 2011 Jun 4.