Details of Disease

General Information of Disease (ID: DIS2QWBE)

Disease Name Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Synonyms PVOD and/or PCH
Definition
A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.
Disease Hierarchy
DISGGAGJ: Respiratory disease
DISP8ZX5: Pulmonary arterial hypertension
DIS2QWBE: Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Disease Identifiers
MONDO ID
MONDO_0018554
UMLS CUI
C3698354
MedGen ID
785618
Orphanet ID
431353

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EIF2AK4 TT9U4EP Strong Genetic Variation [1]
EIF2AK4 TT9U4EP Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EIF2AK4 OTLE1JY8 Definitive Autosomal recessive [2]
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References

1 Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.Lancet Respir Med. 2017 Feb;5(2):125-134. doi: 10.1016/S2213-2600(16)30438-6. Epub 2017 Jan 11.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.