| Disease ID | Source | Name | Description |
| 615344 | OMIM | Pulmonary hypertension, primary, 4 (PPH4) | A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. The disease is caused by variants affecting the gene represented in this entry. |