Pulmonary venoocclusive disease

General Information (adopted from Orphanet):

Synonyms, Signs: PVOD1
Pulmonary veno-occlusive disease 1
Number of Symptoms 41
OrphanetNr: 31837
OMIM Id: 265450
ICD-10:
UMLs: C0034091
MeSH: D011668
MedDRA: 10037458
Snomed: 89420002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Pulmonary arterial hypertension
 -Rare respiratory disease
Rare genetic respiratory disease
 -Rare genetic disease

Comment:

Risk factors for this disease include toxin exposure and heterozygous mutations in the BMPR2 gene with incomplete penetrance (PMID:23886653). PVOD can be easily misdiagnosed as idiopathic pulmonary arterial hypertension (IPAH). It accounts for 5 to 10% of cases initially considered as IPAH. IPAH and PVOD may represent two parts of the same disease spectrum, with lesions preferentially affecting precapillary vessels in PAH and postcapillary vessels in PVOD. PVOD occurs equally in men and women, whereas, IPAH has a clear female predominance. (PMID:19634080).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain Occasionally [IBIS] 18% (n=11) 11115457 IBIS 92 / 7739
2
(HPO:0001217) Clubbing 11115457 IBIS 39 / 7739
3
(HPO:0000961) Cyanosis Occasionally [IBIS] 27% (n=11) 11115457 IBIS 60 / 7739
4
(HPO:0005312) Pulmonary aterial intimal fibrosis 23886653 IBIS 3 / 7739
5
(HPO:0001640) Cardiomegaly 9440597 IBIS 81 / 7739
6
(HPO:0001667) Right ventricular hypertrophy 9440597 IBIS 23 / 7739
7
(HPO:0011718) Abnormality of the pulmonary veins 19634080; 24853728 IBIS 6 / 7739
8
(HPO:0005180) Tricuspid regurgitation 9440597 IBIS 20 / 7739
9
(HPO:0001707) Abnormality of the right ventricle 9440597 IBIS 7 / 7739
10
(HPO:0001708) Right ventricular failure 19634080 IBIS 11 / 7739
11
(HPO:0002092) Pulmonary hypertension 19634080 IBIS 109 / 7739
12
(HPO:0001698) Pericardial effusion Occasionally [IBIS] 22% (n=9) 11115457 IBIS 20 / 7739
13
(HPO:0004890) Elevated pulmonary artery pressure Very frequent [IBIS] 100% (n=11) 11115457 IBIS 8 / 7739
14
(HPO:0001279) Syncope 23886653 IBIS 94 / 7739
15
(HPO:0100598) Pulmonary edema 24548200 IBIS 17 / 7739
16
(HPO:0002094) Dyspnea Very frequent [IBIS] 100% (n=11) 11115457 IBIS 132 / 7739
17
(HPO:0006518) Pulmonary venous occlusion 9440597 IBIS 2 / 7739
18
(HPO:0002113) Pulmonary infiltrates Very Frequent [IBIS] 91% (n=11) 11115457 IBIS 36 / 7739
19
(HPO:0012418) Hypoxemia 18626305 IBIS 18 / 7739
20
(HPO:0002202) Pleural effusion Frequent [IBIS] 36% (n=11) 11115457 IBIS 22 / 7739
21
(HPO:0012415) Abnormal blood gas level 19634080 IBIS 9 / 7739
22
(HPO:0002093) Respiratory insufficiency 18626305 IBIS 410 / 7739
23
(HPO:0002088) Abnormality of lung morphology 19634080 IBIS 11 / 7739
24
(HPO:0002716) Lymphadenopathy Frequent [IBIS] 33% (n=9) 11115457 IBIS 129 / 7739
25
(HPO:0100721) Mediastinal lymphadenopathy 23886653 IBIS 19 / 7739
26
(OMIM) Occult alveolar hemorrhage 19634080 IBIS 1 / 7739
27
(MedDRA:10047240) Venous pressure jugular increased Frequent [IBIS] 64% (n=11) 11115457 IBIS 6 / 7739
28
(MedDRA:10060237) Right ventricular systolic pressure decreased 23886653 IBIS 1 / 7739
29
(OMIM) Centrilobular ground glass opacities seen on CT 19634080 IBIS 3 / 7739
30
(OMIM) Thickened interlobular septae seen on CT 9440597 IBIS 2 / 7739
31
(OMIM) Reduced diffusion capacity 9645575 IBIS 8 / 7739
32
(MedDRA:10065906) Carbon monoxide diffusing capacity decreased Frequent [IBIS] 81% (n=11) 19634080 IBIS 8 / 7739
33
(MedDRA:10062049) Lymphocytic infiltration 11069841 IBIS 9 / 7739
34
(OMIM) Prominent second heart sound 23235992 IBIS 1 / 7739
35
(OMIM) [DEL] Thickened alveolar septa 19634080 IBIS 3 / 7739
36
(MedDRA:10037313) Pulmonary alveolar haemorrhage 19634080 IBIS 2 / 7739
37
(MedDRA:10037396) Pulmonary haemosiderosis 24548200 IBIS 1 / 7739
38
(HPO:0012735) Cough Frequent [IBIS] 55% (n=11) 11115457 IBIS 24 / 7739
39
(MedDRA:10033318) Oxygen saturation decreased 9440597 IBIS 4 / 7739
40
(MedDRA:10019024) Haemosiderosis Frequent [IBIS] 64% (n=9) 11115457 IBIS 1 / 7739
41
(MedDRA:10025080) Lung consolidation 23886653 IBIS 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Voordes et al. (1977) reported pulmonary venoocclusive disease in a male infant who died at the age of 3 months. Both intra- and extrapulmonary veins were involved. A brother had died at the age of 8 weeks of ...
Molecular genetics OMIM In a family in which the proband had PVOD and her mother had pulmonary hypertension, Runo et al. (2003) analyzed the BMPR2 gene and identified heterozygosity for a 1-bp deletion (600799.0021) in the proband and her unaffected sister. ...