Details of Disease | DrugMAP

General Information of Disease (ID: DIS62DX8)

Disease Name	Pulmonary venoocclusive disease
Synonyms	obstructive disease of the pulmonary veins; PVOD; pulmonary capillary hemangiomatosis; pulmonary veno-occlusive disease
Definition	A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
Disease Hierarchy	DISYKSRF: Genetic disease DIS1LT8E: Lung disease DISVS67S: Vascular disease DIS62DX8: Pulmonary venoocclusive disease
Disease Identifiers	MONDO ID MONDO_0009937 MESH ID D011668 UMLS CUI C0034091 MedGen ID 18769 Orphanet ID 31837 SNOMED CT ID 89420002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMPR2	TTGKF90	Limited	Genetic Variation	[1]
EIF2AK4	TT9U4EP	Supportive	Autosomal recessive	[2]
CPB1	TT4UJX5	Strong	Biomarker	[3]
EIF2AK4	TT9U4EP	Strong	Genetic Variation	[4]
HTR2B	TT0K1SC	Strong	Biomarker	[5]
KCNK3	TTGR91N	Strong	Genetic Variation	[1]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK4	OTLE1JY8	Supportive	Autosomal recessive	[2]
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References

1	Genetic counselling in a national referral centre for pulmonary hypertension.Eur Respir J. 2016 Feb;47(2):541-52. doi: 10.1183/13993003.00717-2015. Epub 2015 Dec 23.
2	EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet. 2014 Jan;46(1):65-9. doi: 10.1038/ng.2844. Epub 2013 Dec 1.
3	Global Pulmonary Vascular Remodeling in Pulmonary Hypertension Associated With Heart Failure and Preserved or Reduced Ejection Fraction.Circulation. 2018 Apr 24;137(17):1796-1810. doi: 10.1161/CIRCULATIONAHA.117.031608. Epub 2017 Dec 15.
4	Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension.J Formos Med Assoc. 2020 Jan;119(1 Pt 2):300-309. doi: 10.1016/j.jfma.2019.05.019. Epub 2019 Jun 13.
5	Serotonin-induced smooth muscle hyperplasia in various forms of human pulmonary hypertension.Circ Res. 2004 May 14;94(9):1263-70. doi: 10.1161/01.RES.0000126847.27660.69. Epub 2004 Apr 1.