KEGG   DISEASE: Pulmonary arterial hypertensionHelp
Entry
H01621                      Disease                                

Name
Pulmonary arterial hypertension
Description
Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance and pulmonary pressures. This leads to reduced cardiac output, right heart failure, and ultimately death. PAH is divided into disease subgroups that include heritable (HPAH, formerly familial PAH), idiopathic (IPAH), and PAH associated with a variety of other systemic diseases or drug/toxin exposures. It has been discovered that altered BMPR2 signaling is the major heritable risk factor for development of PAH, via rare variants (mutations) in the BMPR2 gene (coding for a type II receptor member of the transforming growth factor [TGF]-beta family). Pathogenic mutations in the type I receptor ACVRL1 and, at a significantly lower frequency, the type III receptor endoglin in multiple kindreds cause PAH associated with hereditary hemorrhagic telangiectasia (HHT). Together, these observations support a prominent role for TGF-beta family members in the development of PAH.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hypertensive diseases
   H01621  Pulmonary arterial hypertension
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Pulmonary heart disease or diseases of pulmonary circulation
   BB01  Pulmonary hypertension
    H01621  Pulmonary arterial hypertension
BRITE hierarchy
Pathway
hsa04350 TGF-beta signaling pathway   
Gene
BMPR2 [HSA:659] [KO:K04671]
ACVRL1 [HSA:94] [KO:K13594]
ENG [HSA:2022] [KO:K06526]
CAV1 [HSA:857] [KO:K06278]
KCNK3 [HSA:3777] [KO:K04914]
SMAD9 [HSA:4093] [KO:K16791]
EIF2AK4 [HSA:440275] [KO:K16196]
Drug
Epoprostenol [DR:D00106]
Epoprostenol sodium [DR:D01337]
Iloprost [DR:D02721]
Treprostinil [DR:D06213]
Selexipag [DR:D09994]
Bosentan [DR:D01227]
Ambrisentan [DR:D07077]
Macitentan [DR:D10135]
Riociguat [DR:D09572]
Sildenafil [DR:D08514]
Sildenafil citrate [DR:D02229]
Tadalafil [DR:D02008]
Nitric oxide [DR:D00074]
Other DBs
ICD-11: BB01.0
ICD-10: I27
MeSH: D065627
Reference
PMID:25082294 (drug)
  Authors
Matsubara H, Ogawa A
  Title
Treatment of idiopathic/hereditary pulmonary arterial hypertension.
  Journal
J Cardiol 64:243-9 (2014)
DOI:10.1016/j.jjcc.2014.06.009
Reference
  Authors
Lai YC, Potoka KC, Champion HC, Mora AL, Gladwin MT
  Title
Pulmonary arterial hypertension: the clinical syndrome.
  Journal
Circ Res 115:115-30 (2014)
DOI:10.1161/CIRCRESAHA.115.301146
Reference
  Authors
Soubrier F, Chung WK, Machado R, Grunig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M
  Title
Genetics and genomics of pulmonary arterial hypertension.
  Journal
J Am Coll Cardiol 62:D13-21 (2013)
DOI:10.1016/j.jacc.2013.10.035
Reference
  Authors
Austin ED, Loyd JE
  Title
The genetics of pulmonary arterial hypertension.
  Journal
Circ Res 115:189-202 (2014)
DOI:10.1161/CIRCRESAHA.115.303404
Reference
PMID:24912571 (drug)
  Authors
Kylhammar D, Persson L, Hesselstrand R, Radegran G
  Title
Prognosis and response to first-line single and combination therapy in pulmonary arterial hypertension.
  Journal
Scand Cardiovasc J 48:223-33 (2014)
DOI:10.3109/14017431.2014.931595
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