Pulmonary Venoocclusive Disease 1, Autosomal Dominant (PVOD1)

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OMIM 57 265450 Orphanet 59 ORPHA31837 MESH via Orphanet 45 D011668 UMLS via Orphanet 74 C0034091

MedGen 42 C3887658 C0034091 MeSH 44 D006976 D011668 SNOMED-CT via HPO 69 263681008 11399002 697898008 70995007 89420002 22447003 72196001 more UMLS 73 C3887658 C0034091

OMIM : ⁵⁷ Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see 178600), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008). (265450)

MalaCards based summary : Pulmonary Venoocclusive Disease 1, Autosomal Dominant, also known as pulmonary venoocclusive disease 1, is related to pulmonary venoocclusive disease and pulmonary hypertension, and has symptoms including hemoptysis An important gene associated with Pulmonary Venoocclusive Disease 1, Autosomal Dominant is BMPR2 (Bone Morphogenetic Protein Receptor Type 2). Affiliated tissues include lung, heart and lymph node, and related phenotypes are pulmonary arterial hypertension and elevated jugular venous pressure

Genetics Home Reference : ²⁵ Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension.

UniProtKB/Swiss-Prot : ⁷⁵ Pulmonary venoocclusive disease 1, autosomal dominant: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension.

Clinical features from OMIM:

265450

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased human cytomegalovirus (HCMV) strain AD169 replication	GR00248-A	8.62	BMPR2 EIF2AK4

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