KEGG   DISEASE: 肺動脈性肺高血圧症
エントリ  
H01621                                                             
名称    
肺動脈性肺高血圧症
概要    
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.
カテゴリ  
循環器疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  高血圧性疾患
   H01621  肺動脈性肺高血圧症
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  肺性心疾患または肺循環疾患
   BB01  肺高血圧
    H01621  肺動脈性肺高血圧症
特定疾患 (難病) [jp08407.html]
 H01621
関連パスウェイ
hsa04350  TGF-beta signaling pathway
病因遺伝子 
(PPH1) BMPR2 [HSA:659] [KO:K04671]
(PPH2) SMAD9 [HSA:4093] [KO:K16791]
(PPH3) CAV1 [HSA:857] [KO:K06278]
(PPH4) KCNK3 [HSA:3777] [KO:K04914]
(PPH5) ATP13A3 [HSA:79572] [KO:K14951]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
治療薬   
エポプロステノールナトリウム [DR:D01337]
イロプロスト [DR:D02721]
ベラプロストナトリウム [DR:D01551]
トレプロスチニル [DR:D06213]
セレキシパグ [DR:D09994]
ボセンタン水和物 [DR:D01227]
アンブリセンタン [DR:D07077]
マシテンタン [DR:D10135]
リオシグアト [DR:D09572]
シルデナフィルクエン酸塩 [DR:D02229]
タダラフィル [DR:D02008]
一酸化窒素 [DR:D00074]
リンク   
ICD-11: BB01.0
ICD-10: I27
MeSH: D065627
OMIM: 178600 615342 615343 615344 265400 600376 234810
文献    
  著者
Lai YC, Potoka KC, Champion HC, Mora AL, Gladwin MT
  タイトル
Pulmonary arterial hypertension: the clinical syndrome.
  雑誌
Circ Res 115:115-30 (2014)
DOI:10.1161/CIRCRESAHA.115.301146
文献    
  著者
Soubrier F, Chung WK, Machado R, Grunig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M
  タイトル
Genetics and genomics of pulmonary arterial hypertension.
  雑誌
J Am Coll Cardiol 62:D13-21 (2013)
DOI:10.1016/j.jacc.2013.10.035
文献    
  著者
Austin ED, Loyd JE
  タイトル
The genetics of pulmonary arterial hypertension.
  雑誌
Circ Res 115:189-202 (2014)
DOI:10.1161/CIRCRESAHA.115.303404
文献    
PMID:10973254 (BMPR2)
  著者
Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC
  タイトル
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.
  雑誌
Nat Genet 26:81-4 (2000)
DOI:10.1038/79226
文献    
PMID:19211612 (SMAD9)
  著者
Shintani M, Yagi H, Nakayama T, Saji T, Matsuoka R
  タイトル
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.
  雑誌
J Med Genet 46:331-7 (2009)
DOI:10.1136/jmg.2008.062703
文献    
PMID:22474227 (CAV1)
  著者
Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK
  タイトル
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
  雑誌
Circ Cardiovasc Genet 5:336-43 (2012)
DOI:10.1161/CIRCGENETICS.111.961888
文献    
PMID:23883380 (KCNK3)
  著者
Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK
  タイトル
A novel channelopathy in pulmonary arterial hypertension.
  雑誌
N Engl J Med 369:351-361 (2013)
DOI:10.1056/NEJMoa1211097
文献    
PMID:30679663 (ATP13A3)
  著者
Barozzi C, Galletti M, Tomasi L, De Fanti S, Palazzini M, Manes A, Sazzini M, Galie N
  タイトル
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.
  雑誌
Sci Rep 9:753 (2019)
DOI:10.1038/s41598-018-37277-0
文献    
PMID:11484689 (ACVRL1)
  著者
Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L
  タイトル
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
  雑誌
N Engl J Med 345:325-34 (2001)
DOI:10.1056/NEJM200108023450503
文献    
PMID:24292273 (EIF2AK4)
  著者
Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmuller P, Fadel E, Sitbon O, Simonneau G, Tregouet DA, Humbert M, Soubrier F
  タイトル
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
  雑誌
Nat Genet 46:65-9 (2014)
DOI:10.1038/ng.2844
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