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. Author manuscript; available in PMC: 2015 Jun 20.
Published in final edited form as: Circ Res. 2014 Jun 20;115(1):189–202. doi: 10.1161/CIRCRESAHA.115.303404

Table 1.

Rare variants (mutations) reported to associate with PAH. All genes associated with autosomal dominant familial disease except for EIF2AK4 which is associated with autosomal recessive PVOD and PCH

Gene Name Specialized information
BMPR2

  • TGF-β Receptor Superfamily Member

  • ≥ 80% of familial cases

  • 15–25% of IPAH cases
ALK1

  • TGF-β Receptor Superfamily Member

  • PAH associated with familial HHT

  • Not known to occur distinct from HHT
Endoglin

  • TGF-β Receptor Superfamily Member

  • PAH associated with familial HHT

  • Not known to occur distinct from HHT
SMAD9

  • TGF-β Superfamily Downstream Signaling Molecule (canonical signaling pathway)

  • Encodes SMAD8
CAV1

  • Encodes caveolin-1, relevant to caveolar structure as well as nitric oxide signaling

  • Exact estimate of frequency among PAH patients yet to be determined
KCNK3

  • Encodes TASK-1, a pH sensitive potassium channel

  • Exact estimate of frequency among PAH patients yet to be determined
EIF2AK4 (GCN2)

  • Association with recessive and sporadic forms of PVOD and PCH

  • Encodes a Eukaryotic Translation Initiation Factor Superfamily member

  • Exact estimate of frequency among PVOD and PCH patients yet to be determined