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) |
|---|---|---|---|---|---|
| 91 | バッド・キアリ症候群 [消] 💬 "Budd-Chiari syndrome", "BCS", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome" | 4 4 trials | 0 / 0 / 0 / 1 💬 | 5 5 drugs [ 4 4 drugs ] | 4 4 genes | 14 pathways | 211 211人年齢分布  💬 |
| 92 | 特発性門脈圧亢進症 [消] 💬 "Idiopathic portal hypertension", "Banti syndrome" | 0 - | 0 - | 0 - | 313 313人年齢分布  💬 |
| 93 | 原発性胆汁性胆管炎 [消] 💬 "Primary biliary cholangitis", "Primary biliary cirrhosis", "PBC", "Asymptomatic primary biliary cholangitis", "Asymptomatic rimary biliary cirrhosis", "aPBC", "Symptomatic primary biliary cholangitis", "Symptomatic primary biliary cirrhosis", "sPBC" | 298 298 trials | 148 / 136 / 110 / 64 💬 | 252 252 drugs [ 59 59 drugs ] | 35 35 genes | 115 pathways | 16625 16,625人年齢分布  💬 |
| 94 | 原発性硬化性胆管炎 [消] 💬 "Primary sclerosing cholangitis", "PSC", "Intrahepatic primary sclerosing cholangitis", "Intrahepatic PSC", "Extrahepatic primary sclerosing cholangitis", "Extrahepatic PSC", "Intrahepatic and extrahepatic primary sclerosing cholangitis", "Intrahepatic and extrahepatic PSC" | 148 148 trials | 68 / 66 / 51 / 10 💬 | 118 118 drugs [ 39 39 drugs ] | 18 18 genes | 141 pathways | 1106 1,106人年齢分布  💬 |
| 95 | 自己免疫性肝炎 [消] 💬 "Autoimmune hepatitis" | 52 52 trials | 11 / 25 / 11 / 11 💬 | 68 68 drugs [ 27 27 drugs ] | 18 18 genes | 111 pathways | 7081 7,081人年齢分布  💬 |
| 96 | クローン病 [消] 💬 "Crohn disease", "Terminal ileitis" | 2,442 2,442 trials | 898 / 766 / 1004 / 332 💬 | 1,278 1,278 drugs [ 248 248 drugs ] | 142 142 genes | 209 pathways | 50184 50,184人年齢分布  💬 |
| 97 | 潰瘍性大腸炎 [消] 💬 "Ulcerative colitis" | 2,630 2,630 trials | 943 / 957 / 1089 / 298 💬 | 1,459 1,459 drugs [ 265 265 drugs ] | 144 144 genes | 202 pathways | 141387 141,387人年齢分布  💬 |
| 98 | 好酸球性消化管疾患 [消] 💬 "Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "Neonatal Food-protein induced enterocolitis syndrome", "N-FPIES" | 172 172 trials | 48 / 64 / 90 / 13 💬 | 149 149 drugs [ 39 39 drugs ] | 38 38 genes | 135 pathways | 1280 1,280人年齢分布  💬 |
| 99 | 慢性特発性偽性腸閉塞症 [消] 💬 "Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP" | 4 4 trials | 0 / 4 / 0 / 0 💬 | 9 9 drugs [ 2 2 drugs ] | 1 1 gene | 4 pathways | 182 182人年齢分布  💬 |
| 100 | 巨大膀胱短小結腸腸管蠕動不全症 [消] 💬 "Megacystis microcolon intestinal hypoperistalsis syndrome", "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" | 0 - | 0 - | 0 - | 2 2人年齢分布  💬 |
| 101 | 腸管神経節細胞僅少症 [消] 💬 "Congenital isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" | 0 - | 0 - | 0 - | 16 16人年齢分布  💬 |
| 289 | クロンカイト・カナダ症候群 [消] 💬 "Cronkhite-Canada syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 194 194人年齢分布  💬 |
| 290 | 非特異性多発性小腸潰瘍症 [消] 💬 "Chronic nonspecific multiple ulcers of the small intestine", "Nonspecific multiple ulcers in the small intestine" | 1 1 trial | 1 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene | 1 pathway | 85 85人年齢分布  💬 |
| 291 | ヒルシュスプルング病（全結腸型又は小腸型） [消] 💬 "Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" | 12 12 trials | 0 / 1 / 2 / 1 💬 | 24 24 drugs [ 15 15 drugs ] | 0 - | 19 19人年齢分布  💬 |
| 292 | 総排泄腔外反症 [消] 💬 "Cloacal exstrophy", "Vesicointestinal fissure" | 0 - | 0 - | 0 - | 18 18人年齢分布  💬 |
| 293 | 総排泄腔遺残 [消] 💬 "Persistent cloaca" | 0 - | 0 - | 0 - | 50 50人年齢分布  💬 |
| 295 | 乳幼児肝巨大血管腫 [消] 💬 "Infant huge hepatic hemangioma", "Infant giant liver hemangioma" | 0 - | 0 - | 0 - | - |
| 296 | 胆道閉鎖症 [消] 💬 "Biliary atresia" | 71 71 trials | 6 / 19 / 12 / 5 💬 | 70 70 drugs [ 39 39 drugs ] | 35 35 genes | 60 pathways | 449 449人年齢分布  💬 |
| 297 | アラジール症候群 [消] 💬 "Alagille syndrome" | 45 45 trials | 7 / 21 / 16 / 2 💬 | 21 21 drugs [ 10 10 drugs ] | 3 3 genes | 5 pathways | 44 44人年齢分布  💬 |
| 298 | 遺伝性膵炎 [消] 💬 "Hereditary pancreatitis", "Chronic pancreatitis" | 95 95 trials | 23 / 25 / 17 / 7 💬 | 148 148 drugs [ 51 51 drugs ] | 53 53 genes | 142 pathways | 33 33人年齢分布  💬 |
| 299 | 嚢胞性線維症 [消] 💬 "Cystic fibrosis" | 1,695 1,695 trials | 668 / 515 / 636 / 214 💬 | 1,527 1,527 drugs [ 268 268 drugs ] | 111 111 genes | 174 pathways | 13 13人年齢分布  💬 |
| 338 | 進行性家族性肝内胆汁うっ滞症 [消] 💬 "Progressive familial intrahepatic cholestasis", "PFIC" | 60 60 trials | 27 / 18 / 40 / 5 💬 | 26 26 drugs [ 6 6 drugs ] | 2 2 genes | 2 pathways | 3 3人年齢分布  💬 |