Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 33,695 / Drugs : 21,110 - ( DrugBank : 2,155 ) / Drug target genes : 623 - Drug target pathways : 291
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" | 282 282 trials 157 / 132 / 102 / 65 💬 | 245 245 drugs [ 56 56 drugs ] | 35 35 genes 113 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" | 142 142 trials 68 / 61 / 51 / 10 💬 | 113 113 drugs [ 37 37 drugs ] | 19 19 genes 139 pathways | 1022 (1) About 400 patients (2) 1,022 patients Age distribution  💬 |
| 95 | Autoimmune hepatitis [Gast] 💬 | 52 52 trials 11 / 24 / 11 / 10 💬 | 68 68 drugs [ 28 28 drugs ] | 19 19 genes 112 pathways | 6884 (1) About 10,000 patients (2) 6,884 patients Age distribution  💬 |
| 96 | Crohn disease [Gast] 💬 "Terminal ileitis" | 2,400 2,400 trials 987 / 753 / 974 / 346 💬 | 1,391 1,391 drugs [ 267 267 drugs ] | 170 170 genes 215 pathways | 48320 (1) 36,418 patients (2) 48,320 patients Age distribution  💬 |
| 97 | Ulcerative colitis [Gast] 💬 | 2,527 2,527 trials 1020 / 924 / 1049 / 306 💬 | 1,465 1,465 drugs [ 259 259 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" | 171 171 trials 46 / 62 / 85 / 15 💬 | 184 184 drugs [ 47 47 drugs ] | 42 42 genes 141 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] 💬 | 0 - | 0 - | 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" | 14 14 trials 0 / 1 / 2 / 1 💬 | 35 35 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] 💬 | 63 63 trials 6 / 18 / 10 / 5 💬 | 65 65 drugs [ 37 37 drugs ] | 45 45 genes 63 pathways | 422 (1) About 3,500 patients (2) 422 patients Age distribution  💬 |
| 298 | Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis" | 98 98 trials 20 / 26 / 17 / 8 💬 | 180 180 drugs [ 57 57 drugs ] | 53 53 genes 142 pathways | 31 (1) About 300~400 patients (2) 31 patients Age distribution  💬 |
| 299 | Cystic fibrosis [Gast] 💬 | 1,696 1,696 trials 682 / 508 / 620 / 215 💬 | 1,644 1,644 drugs [ 272 272 drugs ] | 96 96 genes 170 pathways | 12 (1) Less than 100 patients (2) 12 patients Age distribution  💬 |
| 338 | Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC" | 60 60 trials 37 / 19 / 41 / 7 💬 | 25 25 drugs [ 6 6 drugs ] | 2 2 genes 2 pathways | 2 (1) About 100 patients (2) 2 patients Age distribution  💬 |