TABLE 2.
Number of reported disease-causing (pathogenic or likely pathogenic) variants across genes and pulmonary hypertension groups
| Gene | Group 1 PAH | Group 2 | Group 3 | Group 4 | Group 5 | ||||||||||
| IPAH | HPAH | DPAH | CTD APAH | HIV APAH | POPH | CHD APAH | Sch. APAH |
PVOD/
PCH |
PPHN | CTEPH | Other | ||||
| ACVRL1 | 20–25 | 5–10 | <5 | <5 | <5 | ||||||||||
| ATP13A3 | 20–25 | <5 | <5 | <5 | <5 | ||||||||||
| BMPR2 | >650 | >350 | <5 | <5 | <5 | 10–15 | <5 | <5 | <5 | ||||||
| CAV1 | 5–10 | 5–10 | <5 | <5 | <5 | ||||||||||
| EIF2AK4 | 10–15 | 5–10 | <5 | 40–50 | |||||||||||
| ENG | 5–10 | <5 | <5 | <5 | <5 | ||||||||||
| GDF2 | 50–60 | <5 | <5 | <5 | |||||||||||
| KCNK3 | 15–20 | 5–10 | <5 | ||||||||||||
| KDR | 5–10 | <5 | <5 | ||||||||||||
| SMAD9 | 15–20 | <5 | <5 | <5 | 5–10 | ||||||||||
| SOX17 | 30–40 | <5 | <5 | <5 | 10–15 | ||||||||||
| TBX4 | 70–80 | 5–10 | <5 | <5 | 10–15 | 10–15 | |||||||||
PAH: pulmonary arterial hypertension; I/H/D: idiopathic/heritable/associated with drugs and toxins; APAH: associated PAH; CTD: connective tissue disease; POPH: portopulmonary hypertension; CHD: congenital heart disease; Sch.: schistosomiasis; PVOD: pulmonary veno-occlusive disease; PCH: pulmonary capillary haemangiomatosis; PPHN: persistent pulmonary hypertension of the newborn; CTEPH: chronic thromboembolic pulmonary hypertension. Data compiled from [10, 27, 30, 50–52, 54, 56, 57, 80, 81, 98–106].