KEGG   DISEASE: Primary pulmonary hypertension
Entry
H01619                      Disease                                

Name
Primary pulmonary hypertension
Description
Primary pulmonary hypertension (PPH) is a progressive disease characterised by raised pulmonary vascular resistance, which results in diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and middle-aged women; mean survival from onset of symptoms is 2-3 years. Mutations in the type II bone morphogenetic protein (BMP) receptor (BMPR)-II are now considered to be the genetic basis for familial PPH and ~30% of cases of sporadic PPH. BMPs are members of the transforming growth factor beta superfamily and affect intracellular signalling via Smads and mitogen-activated protein kinases. It has been shown that missense mutations of cysteine residues in the extracellular or kinase domain of BMPR2 result in intracellular localisation of the mutated receptor and negligible Smad signalling.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hypertensive diseases
   H01619  Primary pulmonary 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
    H01619  Primary pulmonary hypertension
Related
pathway
hsa04350  TGF-beta signaling pathway
Gene
BMPR2 [HSA:659] [KO:K04671]
Drug
Nitric oxide [DR:D00074]
Other DBs
ICD-11: BB01
ICD-10: I27.0
MeSH: D065627
OMIM: 178600
Reference
PMID:9729004 (description, pathogen)
  Authors
Gaine SP, Rubin LJ
  Title
Primary pulmonary hypertension.
  Journal
Lancet 352:719-25 (1998)
DOI:10.1016/S0140-6736(98)02111-4
Reference
PMID:12737878 (description, gene, drug)
  Authors
Runo JR, Loyd JE
  Title
Primary pulmonary hypertension.
  Journal
Lancet 361:1533-44 (2003)
DOI:10.1016/S0140-6736(03)13167-4
Reference
PMID:15005857 (description, gene, pathogen)
  Authors
Rudarakanchana N, Morrell NW
  Title
Primary pulmonary hypertension: molecular basis and potential for therapy.
  Journal
Expert Rev Mol Med 6:1-15 (2004)
DOI:10.1017/S1462399404007483
Reference
  Authors
Eddahibi S, Morrell N, d'Ortho MP, Naeije R, Adnot S
  Title
Pathobiology of pulmonary arterial hypertension.
  Journal
Eur Respir J 20:1559-72 (2002)
DOI:10.1183/09031936.02.00081302
Reference
PMID:15049720 (drug)
  Authors
Nagaya N
  Title
Drug therapy of primary pulmonary hypertension.
  Journal
Am J Cardiovasc Drugs 4:75-85 (2004)
DOI:10.2165/00129784-200404020-00002
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