Pulmonary venoocclusive disease 1, autosomal dominant

Preferred Label : Pulmonary venoocclusive disease 1, autosomal dominant;

Symbol : PVOD1;

CISMeF acronym : PVOD; PVOD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PVOD;

Description : 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 (PAH; 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' PAH 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 PAH. 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the bone morphogenetic receptor, type II gene (BMPR2, 600799.0001);

Prefixed ID : #265450;

Details

Origin ID

265450;

UMLS CUI

C3887658;

Currated CISMeF NLP mapping
- Pulmonary Veno-Occlusive Disease [NCIt concept]
- Pulmonary veno-occlusive disease [ICD-11 More detail]
- Pulmonary veno-occlusive disease [MedDRA Preferred Term]
- Pulmonary veno-occlusive disease (disorder) [SNOMED CT concept]
- Pulmonary venoocclusive disease [ORDO Disease]
- Pulmonary venous occlusion [HPO term]
- pulmonary Veno-Occlusive disease [MeSH concept]
- pulmonary veno-occlusive disease [MeSH Descriptor]
- pulmonary veno-occlusive disease [SNOMED Notion]
- pulmonary venoocclusive disease [DO Concept]
DO Cross reference
- pulmonary venoocclusive disease [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein receptor, type II [OMIM gene]
HPO term(s)
- Abnormally loud pulmonic component of the second heart sound [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrilobular ground-glass opacification on pulmonary HRCT [HPO term]
- Elevated jugular venous pressure [HPO term]
- Interlobular septal thickening [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary venous occlusion [HPO term]
ORDO concept(s)
- Pulmonary venoocclusive disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- pulmonary venoocclusive disease [Disease (Nov.)]

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