Pulmonary Venoocclusive Disease 1, Autosomal Dominant (PVOD1)

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OMIM® 57 265450 OMIM Phenotypic Series 57 PS265450 MeSH 44 D006976 D011668 MESH via Orphanet 45 D011668 UMLS via Orphanet 72 C0034091

Orphanet 58 ORPHA31837 MedGen 41 C0034091 C3887658 SNOMED-CT via HPO 68 11399002 22447003 263681008 697898008 70995007 89420002 more UMLS 71 C0034091 C3887658

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) (Updated 05-Mar-2021)

MalaCards based summary : Pulmonary Venoocclusive Disease 1, Autosomal Dominant, also known as pulmonary venoocclusive disease 1, is related to pulmonary venoocclusive disease and heritable pulmonary arterial 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). The drugs Orange and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and heart, and related phenotypes are interlobular septal thickening on pulmonary hrct and abnormally loud pulmonic component of the second heart sound

UniProtKB/Swiss-Prot : ⁷³ 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 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased human cytomegalovirus (HCMV) strain AD169 replication	GR00248-A	8.32	EIF2AK4

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