Neoplasms
Benign neoplasms
Autosomal recessive
15q15.1
Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension. It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 234810.1.1 | Lebanon | Male | No | No | Exertional dyspnea; Pulmonary arterial ... Exertional dyspnea; Pulmonary arterial hypertension; Arterial intimal fibrosis; Death (3 Years after diagnosis)  | NM_001013703.4:c.560_564del | Homozygous | Autosomal, Recessive | Abou Hassan et al, 2019 | |
| 234810.1.2 | Lebanon | Male | No | Asymptomatic Asymptomatic | NM_001013703.4:c.560_564del | Homozygous | Autosomal, Recessive | Abou Hassan et al, 2019 | Brother of 234810.1.... | |
| 234810.2.1 | Lebanon | Female | No | No | Exertional dyspnea; Pulmonary arterial ... Exertional dyspnea; Pulmonary arterial hypertension; Pneumonia; Acute respiratory distress syndrome; Death (14 years after diagnosis) | NM_001013703.4:c.1671A>G | Homozygous | Autosomal, Recessive | Abou Hassan et al, 2019 | Index patient |
| 234810.2.2 | Lebanon | Female | Yes | No | Exertional dyspnea; Pulmonary arterial ... Exertional dyspnea; Pulmonary arterial hypertension | NM_001013703.4:c.1671A>G | Homozygous | Autosomal, Recessive | Abou Hassan et al, 2019 | Brother of 234810.2.... |