Disease 指定難病
疾患数 : 338 - 臨床試験総数 : 34,520 / 薬物総数 : 19,957 - ( DrugBank : 2,195 ) / 標的遺伝子総数 : 613 - 標的パスウェイ総数 : 297
| 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 (R4年度) |
|---|---|---|---|---|---|
| 47 | バージャー病 [循] 💬 "Buerger disease", "Thromboangiitis obliterans" | 9 9 trials | 0 / 3 / 1 / 0 💬 | 14 14 drugs [ 7 7 drugs ] | 5 5 genes | 16 pathways | 1609 1,609人年齢分布  💬 |
| 57 | 特発性拡張型心筋症 [循] 💬 "Idiopathic dilated cardiomyopathy" | 11 11 trials | 3 / 6 / 1 / 3 💬 | 23 23 drugs [ 12 12 drugs ] | 9 9 genes | 35 pathways | 18234 18,234人年齢分布  💬 |
| 58 | 肥大型心筋症 [循] 💬 "Hypertrophic cardiomyopathy", "HCM", "Nonobstructive hypertrophic cardiomyopathy", "Nonobstructive HCM", "Obstructive hypertrophic cardiomyopathy", "Obstructive HCM", "OHCM", "Hypertrophic obstructive cardiomyopathy", "HOCM", "Mid-ventricular obstructive hypertrophic cardiomyopathy", "MVOHCM", "Mid-ventricular hypertrophic obstructive cardiomyopathy", "MVHOCM", "Apical hypertrophic cardiomyopathy", "APH", "Expansion phase hypertrophic cardiomyopathy" | 126 126 trials | 21 / 55 / 43 / 14 💬 | 135 135 drugs [ 42 42 drugs ] | 46 46 genes | 162 pathways | 4318 4,318人年齢分布  💬 |
| 59 | 拘束型心筋症 [循] 💬 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" | 0 - | 0 - | 0 - | 60 60人年齢分布  💬 |
| 167 | マルファン症候群 [循] 💬 "Marfan syndrome" | 21 21 trials | 15 / 6 / 12 / 4 💬 | 40 40 drugs [ 11 11 drugs ] | 10 10 genes | 50 pathways | 1173 1,173人年齢分布  💬 |
| 179 | ウィリアムズ症候群 [循] 💬 "Williams syndrome" | 5 5 trials | 0 / 0 / 0 / 1 💬 | 14 14 drugs [ 7 7 drugs ] | 8 8 genes | 32 pathways | 56 56人年齢分布  💬 |
| 188 | 多脾症候群 [循] 💬 "Polysplenia syndrome" | 0 - | 0 - | 0 - | 63 63人年齢分布  💬 |
| 189 | 無脾症候群 [循] 💬 "Asplenia syndrome" | 0 - | 0 - | 0 - | 91 91人年齢分布  💬 |
| 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 | 23 pathways | 73 73人年齢分布  💬 |
| 207 | 総動脈幹遺残症 [循] 💬 "Persistent truncus arteriosus", "Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV" | 0 - | 0 - | 0 - | 38 38人年齢分布  💬 |
| 208 | 修正大血管転位症 [循] 💬 "Corrected transposition of great arteries" | 0 - | 0 - | 0 - | 208 208人年齢分布  💬 |
| 209 | 完全大血管転位症 [循] 💬 "Complete transposition of great vessel", "Complete transposition of great arteries", "Complete TGA", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV" | 0 - | 0 - | 0 - | 288 288人年齢分布  💬 |
| 210 | 単心室症 [循] 💬 "Single Ventricle", "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" | 51 51 trials | 23 / 15 / 24 / 6 💬 | 53 53 drugs [ 22 22 drugs ] | 32 32 genes | 67 pathways | 479 479人年齢分布  💬 |
| 211 | 左心低形成症候群 [循] 💬 "Hypoplastic left heart syndrome", "HLHS" | 22 22 trials | 10 / 11 / 1 / 0 💬 | 29 29 drugs [ 9 9 drugs ] | 5 5 genes | 14 pathways | 70 70人年齢分布  💬 |
| 212 | 三尖弁閉鎖症 [循] 💬 "Tricuspid atresia", "TA" | 5 5 trials | 2 / 2 / 0 / 0 💬 | 6 6 drugs [ 6 6 drugs ] | 8 8 genes | 12 pathways | 199 199人年齢分布  💬 |
| 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 - | 157 157人年齢分布  💬 |
| 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", "Tetralogy of Fallot with pulmonary atresia", "TFPA" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 4 4 drugs ] | 0 - | 123 123人年齢分布  💬 |
| 215 | ファロー四徴症 [循] 💬 "Tetralogy of Fallot", "Fallot tetralogy" | 18 18 trials | 4 / 5 / 2 / 1 💬 | 26 26 drugs [ 14 14 drugs ] | 13 13 genes | 45 pathways | 760 760人年齢分布  💬 |
| 216 | 両大血管右室起始症 [循] 💬 "Double outlet right ventricle" | 0 - | 0 - | 0 - | 286 286人年齢分布  💬 |
| 217 | エプスタイン病 [循] 💬 "Ebstein disease", "Ebstein malformation" | 0 - | 0 - | 0 - | 141 141人年齢分布  💬 |
| 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" | 15 15 trials | 1 / 7 / 1 / 2 💬 | 24 24 drugs [ 10 10 drugs ] | 3 3 genes | 105 pathways | 49 49人年齢分布  💬 |
| 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" | 27 27 trials | 14 / 7 / 2 / 6 💬 | 30 30 drugs [ 15 15 drugs ] | 14 14 genes | 153 pathways | 103 103人年齢分布  💬 |
| 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-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 1 1 gene | 51 pathways | 244 244人年齢分布  💬 |
| 311 | 先天性三尖弁狭窄症 [循] 💬 "Congenital tricuspid stenosis" | 0 - | 0 - | 0 - | 4 4人年齢分布  💬 |
| 312 | 先天性僧帽弁狭窄症 [循] 💬 "Congenital mitral stenosis" | 0 - | 0 - | 0 - | 13 13人年齢分布  💬 |
| 313 | 先天性肺静脈狭窄症 [循] 💬 "Congenital pulmonary vein stenosis" | 0 - | 0 - | 0 - | 2 2人年齢分布  💬 |
| 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  💬 |