Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297
Disease group: Gastrointestinal diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 91 | Budd-Chiari syndrome [Gast] 💬 "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 | 218 (1) 293 patients (2) 218 patients Age distribution  💬 |
| 92 | Idiopathic portal hypertension [Gast] 💬 "Banti syndrome" | 0 - | 0 - | 0 - | 301 (1) About 1,000 patients (2) 301 patients Age distribution  💬 |
| 93 | Primary biliary cholangitis [Gast] 💬 "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 | 16996 (1) 19,701 patients (2) 16,996 patients Age distribution  💬 |
| 94 | Primary sclerosing cholangitis [Gast] 💬 "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 | 1022 (1) About 400 patients (2) 1,022 patients Age distribution  💬 |
| 95 | Autoimmune hepatitis [Gast] 💬 | 52 52 trials 11 / 25 / 11 / 11 💬 | 68 68 drugs [ 27 27 drugs ] | 18 18 genes 111 pathways | 6884 (1) About 10,000 patients (2) 6,884 patients Age distribution  💬 |
| 96 | Crohn disease [Gast] 💬 "Terminal ileitis" | 2,442 2,442 trials 898 / 766 / 1004 / 332 💬 | 1,278 1,278 drugs [ 248 248 drugs ] | 142 142 genes 209 pathways | 48320 (1) 36,418 patients (2) 48,320 patients Age distribution  💬 |
| 97 | Ulcerative colitis [Gast] 💬 | 2,630 2,630 trials 943 / 957 / 1089 / 298 💬 | 1,459 1,459 drugs [ 265 265 drugs ] | 144 144 genes 202 pathways | 138079 (1) 143,733 patients (2) 138,079 patients Age distribution  💬 |
| 98 | Eosinophilic gastrointestinal disease [Gast] 💬 "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 | 1184 (1) About 5,000 patients (By the research group) (2) 1,184 patients Age distribution  💬 |
| 99 | Chronic intestinal pseudo-obstruction [Gast] 💬 "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 | 186 (1) Child case: 100 patients, Adult case: 1,300 patients (2) 186 patients Age distribution  💬 |
| 100 | Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬 "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" | 0 - | 0 - | 0 - | 1 (1) Less than 100 patients (By the research group) (2) 1 patient Age distribution  💬 |
| 101 | Congenital isolated hypoganglionosis [Gast] 💬 "Intestinal ganglion cells insignificant disease" | 0 - | 0 - | 0 - | 17 (1) About 100 patients (By the research group) (2) 17 patients Age distribution  💬 |
| 289 | Cronkhite-Canada syndrome [Gast] 💬 | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 189 (1) About 500 patients (2) 189 patients Age distribution  💬 |
| 290 | Chronic nonspecific multiple ulcers of the small intestine [Gast] 💬 "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 | 88 (1) About 200 patients (2) 88 patients Age distribution  💬 |
| 291 | Hirschsprung disease, entire colon type [Gast] 💬 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 (1) About 10,000 patients (Among them, entire colon type and small intestine type: About 1,000 patients) (2) 19 patients Age distribution  💬 |
| 292 | Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure" | 0 - | 0 - | 0 - | 16 (1) About 300 patients (2) 16 patients Age distribution  💬 |
| 293 | Persistent cloaca [Gast] 💬 | 0 - | 0 - | 0 - | 42 (1) About 600 patients (2) 42 patients Age distribution  💬 |
| 295 | Infant huge hepatic hemangioma [Gast] 💬 "Infant giant liver hemangioma" | 0 - | 0 - | 0 - | (1) Less than 100 patients (2) - |
| 296 | Biliary atresia [Gast] 💬 | 71 71 trials 6 / 19 / 12 / 5 💬 | 70 70 drugs [ 39 39 drugs ] | 35 35 genes 60 pathways | 422 (1) About 3,500 patients (2) 422 patients Age distribution  💬 |
| 298 | Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis" | 95 95 trials 23 / 25 / 17 / 7 💬 | 148 148 drugs [ 51 51 drugs ] | 53 53 genes 142 pathways | 31 (1) About 300~400 patients (2) 31 patients Age distribution  💬 |
| 299 | Cystic fibrosis [Gast] 💬 | 1,695 1,695 trials 668 / 515 / 636 / 214 💬 | 1,527 1,527 drugs [ 268 268 drugs ] | 111 111 genes 174 pathways | 12 (1) Less than 100 patients (2) 12 patients Age distribution  💬 |
| 338 | Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC" | 60 60 trials 27 / 18 / 40 / 5 💬 | 26 26 drugs [ 6 6 drugs ] | 2 2 genes 2 pathways | 2 (1) About 100 patients (2) 2 patients Age distribution  💬 |