Details of Disease

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.