Details of Disease

General Information of Disease (ID: DISHZL6S)

• Disease Name: Obsolete pulmonary arteriovenous malformation
• Synonyms: pulmonary arteriovenous fistulas; pulmonar arteriovenous aneurysm; pulmonary arterio-veinous fistula; pulmonary AV fistula; PAVM; pulmonary arteriovenous malformation; arteriovenous fistula of pulmonary vessels; pulmonary arteriovenous fistula; pulmonary arteriovenous malformation (disease)
• Definition: OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.|Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0006548
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISHZL6S: Obsolete pulmonary arteriovenous malformation

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CIAO3	OT0V91PK	Limited	Autosomal recessive	[1]

References

• [1] A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations. Oncotarget. 2017 Jan 10;8(2):2708-2718. doi: 10.18632/oncotarget.13156.