| H01619 | |
| H番号 | H01619 |
| 名称 | 原発性肺高血圧症 |
| 概要 | 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. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | nt06507(H01619) TGFB signaling |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ベラプロストナトリウム [DR:D01551] |
| コメント | - |
| リンク | ICD-11: BB01 ICD-10: I27.0 MeSH: D065627 OMIM: 178600 615342 615343 615344 |
| 文献 | PMID:9729004 著者 Gaine SP, Rubin LJ タイトル Primary pulmonary hypertension. 雑誌 Lancet 352:719-25 (1998) DOI:10.1016/S0140-6736(98)02111-4 PMID:12737878 (PPH1) 著者 Runo JR, Loyd JE タイトル Primary pulmonary hypertension. 雑誌 Lancet 361:1533-44 (2003) DOI:10.1016/S0140-6736(03)13167-4 PMID:15005857 著者 Rudarakanchana N, Morrell NW タイトル Primary pulmonary hypertension: molecular basis and potential for therapy. 雑誌 Expert Rev Mol Med 6:1-15 (2004) DOI:10.1017/S1462399404007483 PMID:12503718 著者 Eddahibi S, Morrell N, d'Ortho MP, Naeije R, Adnot S タイトル Pathobiology of pulmonary arterial hypertension. 雑誌 Eur Respir J 20:1559-72 (2002) DOI:10.1183/09031936.02.00081302 PMID:19211612 (PPH2) 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 PMID:22474227 (PPH3) 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 PMID:23883380 (PPH4) 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 |