Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 39,610 / 薬物総数 : 18,765 - ( DrugBank : 2,435 ) / 標的遺伝子総数 : 703 - 標的パスウェイ総数 : 305
| 告示 番号 | 疾患名 ［疾患群］ | 臨床試験数 | Phase 1 / 2 / 3 / 4 | 薬物数 [ DrugBank ] | 標的遺伝子数 | パスウェイ数 | 国内患者数 医療費受給者証所持者数 (R6年度) |
|---|---|---|---|---|---|
| 47 | バージャー病 [循] 💬 "Buerger disease", "Thromboangiitis obliterans" | 14 14 trials | 1 / 2 / 1 / 2 💬 | 18 18 drugs [ 13 13 drugs ] | 7 7 genes | 19 pathways | 1310 1,310人年齢分布
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| 57 | 特発性拡張型心筋症 [循] 💬 "Idiopathic dilated cardiomyopathy" | 11 11 trials | 3 / 6 / 1 / 3 💬 | 17 17 drugs [ 10 10 drugs ] | 9 9 genes | 35 pathways | 17958 17,958人年齢分布
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| 58 | 肥大型心筋症 [循] 💬 "Hypertrophic cardiomyopathy", "HCM" | 181 181 trials | 12 / 68 / 62 / 14 💬 | 136 136 drugs [ 40 40 drugs ] | 49 49 genes | 187 pathways | 4466 4,466人年齢分布
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| 59 | 拘束型心筋症 [循] 💬 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 0 - ] | 0 - | 65 65人年齢分布
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| 167 | マルファン症候群／ロイス・ディーツ症候群 [循] 💬 "Marfan syndrome", "Loeys-Dietz syndrome", "LDS" | 23 23 trials | 0 / 4 / 11 / 2 💬 | 31 31 drugs [ 8 8 drugs ] | 8 8 genes | 51 pathways | 1411 1,411人年齢分布
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| 179 | ウィリアムズ症候群 [循] 💬 "Williams syndrome" | 7 7 trials | 0 / 1 / 2 / 2 💬 | 11 11 drugs [ 7 7 drugs ] | 8 8 genes | 35 pathways | 62 62人年齢分布
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| 188 | 多脾症候群 [循] 💬 "Polysplenia syndrome" | 0 - | 0 - | 0 - | 63 63人年齢分布
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| 189 | 無脾症候群 [循] 💬 "Asplenia syndrome" | 0 - | 0 - | 0 - | 104 104人年齢分布
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| 203 | 22ｑ11.2欠失症候群 [循] 💬 "22q11.2 deletion syndrome" | 5 5 trials | 2 / 1 / 1 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 14 14 genes | 24 pathways | 95 95人年齢分布
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| 207 | 総動脈幹遺残症 [循] 💬 "Persistent truncus arteriosus", "Truncus arteriosus communis" | 0 - | 0 - | 0 - | 50 50人年齢分布
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| 208 | 修正大血管転位症 [循] 💬 "Corrected transposition of great arteries" | 0 - | 0 - | 0 - | 271 271人年齢分布
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| 209 | 完全大血管転位症 [循] 💬 "Complete transposition of great vessel", "Complete transposition of great arteries", "Complete TGA" | 0 - | 0 - | 0 - | 379 379人年齢分布
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| 210 | 単心室症 [循] 💬 "Single Ventricle", "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" | 56 56 trials | 11 / 15 / 22 / 4 💬 | 49 49 drugs [ 25 25 drugs ] | 35 35 genes | 77 pathways | 620 620人年齢分布
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| 211 | 左心低形成症候群 [循] 💬 "Hypoplastic left heart syndrome", "HLHS" | 23 23 trials | 10 / 7 / 1 / 0 💬 | 29 29 drugs [ 11 11 drugs ] | 5 5 genes | 13 pathways | 107 107人年齢分布
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| 212 | 三尖弁閉鎖症 [循] 💬 "Tricuspid atresia", "TA" | 5 5 trials | 1 / 0 / 0 / 0 💬 | 5 5 drugs [ 6 6 drugs ] | 8 8 genes | 13 pathways | 248 248人年齢分布
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| 213 | 心室中隔欠損を伴わない肺動脈閉鎖症 [循] 💬 "Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" | 0 - | 0 - | 0 - | 224 224人年齢分布
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| 214 | 心室中隔欠損を伴う肺動脈閉鎖症 [循] 💬 "Pulmonary atresia with ventricular septum defect", "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia" | 3 3 trials | 0 / 0 / 0 / 0 💬 | 5 5 drugs [ 6 6 drugs ] | 0 - | 173 173人年齢分布
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| 215 | ファロー四徴症 [循] 💬 "Tetralogy of Fallot", "Fallot tetralogy" | 24 24 trials | 3 / 5 / 3 / 1 💬 | 32 32 drugs [ 17 17 drugs ] | 15 15 genes | 48 pathways | 995 995人年齢分布
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| 216 | 両大血管右室起始症 [循] 💬 "Double outlet right ventricle" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 3 3 genes | 14 pathways | 404 404人年齢分布
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| 217 | エプスタイン病 [循] 💬 "Ebstein disease", "Ebstein malformation" | 0 - | 0 - | 0 - | 158 158人年齢分布
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| 279 | 巨大静脈奇形（頚部口腔咽頭びまん性病変） [循] 💬 "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation", "Gigantic venous malformation" | 24 24 trials | 1 / 8 / 1 / 3 💬 | 24 24 drugs [ 12 12 drugs ] | 6 6 genes | 132 pathways | 79 79人年齢分布
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| 280 | 巨大動静脈奇形（頚部顔面又は四肢病変） [循] 💬 "Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation", "Gigantic arteriovenous malformation" | 29 29 trials | 4 / 6 / 0 / 2 💬 | 31 31 drugs [ 15 15 drugs ] | 12 12 genes | 163 pathways | 126 126人年齢分布
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| 281 | クリッペル・トレノネー・ウェーバー症候群 [循] 💬 "Klippel-Trenaunay-Weber syndrome", "Klippel-Trénaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" | 3 3 trials | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 1 1 gene | 49 pathways | 300 300人年齢分布
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| 311 | 先天性三尖弁狭窄症 [循] 💬 "Congenital tricuspid stenosis" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 312 | 先天性僧帽弁狭窄症 [循] 💬 "Congenital mitral stenosis" | 0 - | 0 - | 0 - | 24 24人年齢分布
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| 313 | 先天性肺静脈狭窄症 [循] 💬 "Congenital pulmonary vein stenosis", "Congenital pulmonary venous obstruction" | 0 - | 0 - | 0 - | 3 3人年齢分布
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| 314 | 左肺動脈右肺動脈起始症 [循] 💬 "Vascular sling" | 0 - | 0 - | 0 - | 2 2人年齢分布
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