Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 39,610 / Drugs : 18,765 - ( DrugBank : 2,435 ) / Drug target genes : 703 - Drug target pathways : 305

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2023)
91	Budd-Chiari syndrome [Gast] 💬 "BCS" 91. Budd-Chiari syndrome × [Gast] Gastrointestinal diseases	3 trials    | 0 / 0 / 0 / 1 💬 91. Budd-Chiari syndrome × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	4 genes   12 pathways	221 patients Age distribution💬 91. Budd-Chiari syndrome × Age Num 0-9 - 10-19 2 20-29 13 30-39 23 40-49 57 50-59 57 60-69 32 70-74 19 75- 18
92	Idiopathic portal hypertension [Gast] 💬 "Banti syndrome" 92. Idiopathic portal hypertension × [Gast] Gastrointestinal diseases	-	-	-	324 patients Age distribution💬 92. Idiopathic portal hypertension × Age Num 0-9 - 10-19 3 20-29 31 30-39 28 40-49 51 50-59 65 60-69 64 70-74 39 75- 43
93	Primary biliary cholangitis [Gast] 💬 "Primary biliary cirrhosis", "PBC" 93. Primary biliary cholangitis × [Gast] Gastrointestinal diseases	352 trials    | 23 / 149 / 117 / 44 💬 93. Primary biliary cholangitis × Some trials have no Phase data.	206 drugs   [ 55 drugs ]	40 genes   119 pathways	16,344 patients Age distribution💬 93. Primary biliary cholangitis × Age Num 0-9 - 10-19 1 20-29 14 30-39 144 40-49 838 50-59 2,678 60-69 4,403 70-74 2,944 75- 5,322
94	Primary sclerosing cholangitis [Gast] 💬 "PSC" 94. Primary sclerosing cholangitis × [Gast] Gastrointestinal diseases	177 trials    | 22 / 77 / 49 / 1 💬 94. Primary sclerosing cholangitis × Some trials have no Phase data.	120 drugs   [ 48 drugs ]	25 genes   148 pathways	1,175 patients Age distribution💬 94. Primary sclerosing cholangitis × Age Num 0-9 - 10-19 5 20-29 173 30-39 198 40-49 196 50-59 181 60-69 153 70-74 99 75- 170
95	Autoimmune hepatitis [Gast] 💬 95. Autoimmune hepatitis × [Gast] Gastrointestinal diseases	58 trials    | 4 / 26 / 12 / 7 💬 95. Autoimmune hepatitis × Some trials have no Phase data.	56 drugs   [ 27 drugs ]	23 genes   114 pathways	7,403 patients Age distribution💬 95. Autoimmune hepatitis × Age Num 0-9 1 10-19 5 20-29 101 30-39 206 40-49 575 50-59 1,409 60-69 1,930 70-74 1,253 75- 1,923
96	Crohn disease [Gast] 💬 "CD", "Terminal ileitis", "Inflammatory bowel disease", "IBD" 96. Crohn disease × [Gast] Gastrointestinal diseases	2,737 trials    | 156 / 738 / 1049 / 223 💬 96. Crohn disease × Some trials have no Phase data.	1,197 drugs   [ 240 drugs ]	182 genes   221 pathways	52,108 patients Age distribution💬 96. Crohn disease × Age Num 0-9 5 10-19 631 20-29 9,292 30-39 11,246 40-49 12,263 50-59 10,648 60-69 4,823 70-74 1,428 75- 1,772
97	Ulcerative colitis [Gast] 💬 "UC", "Inflammatory bowel disease", "IBD" 97. Ulcerative colitis × [Gast] Gastrointestinal diseases	3,305 trials    | 165 / 931 / 1039 / 179 💬 97. Ulcerative colitis × Some trials have no Phase data.	1,646 drugs   [ 318 drugs ]	165 genes   220 pathways	146,702 patients Age distribution💬 97. Ulcerative colitis × Age Num 0-9 5 10-19 1,099 20-29 15,745 30-39 22,679 40-49 30,272 50-59 32,307 60-69 22,335 70-74 9,505 75- 12,755
98	Eosinophilic gastro-intestinal disorder [Gast] 💬 "EGID", "Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Neonatal food-protein induced enterocolitis syndrome", "Neonatal food-protein induced enterocolitis", "N-FPIES", "Eosinophilic esophagitis", "EoE", "Eosinophilic gastroenteritis", "EGE" 98. Eosinophilic gastro-intestinal disorder × [Gast] Gastrointestinal diseases	214 trials    | 11 / 75 / 100 / 13 💬 98. Eosinophilic gastro-intestinal disorder × Some trials have no Phase data.	171 drugs   [ 46 drugs ]	48 genes   142 pathways	1,371 patients Age distribution💬 98. Eosinophilic gastro-intestinal disorder × Age Num 0-9 14 10-19 82 20-29 133 30-39 168 40-49 281 50-59 333 60-69 206 70-74 67 75- 87
99	Chronic intestinal pseudo-obstruction [Gast] 💬 "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP" 99. Chronic intestinal pseudo-obstruction × [Gast] Gastrointestinal diseases	7 trials    | 0 / 5 / 0 / 0 💬 99. Chronic intestinal pseudo-obstruction × Some trials have no Phase data.	10 drugs   [ 3 drugs ]	1 gene   5 pathways	197 patients Age distribution💬 99. Chronic intestinal pseudo-obstruction × Age Num 0-9 - 10-19 1 20-29 24 30-39 21 40-49 35 50-59 49 60-69 37 70-74 13 75- 17
100	Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬 "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" 100. Megacystis microcolon intestinal hypoperistalsis syndrome × [Gast] Gastrointestinal diseases	-	-	-	2 patients Age distribution💬 100. Megacystis microcolon intestinal hypoperistalsis syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
101	Congenital isolated hypoganglionosis [Gast] 💬 "Intestinal ganglion cells insignificant disease" 101. Congenital isolated hypoganglionosis × [Gast] Gastrointestinal diseases	-	-	-	20 patients Age distribution💬 101. Congenital isolated hypoganglionosis × Age Num 0-9 - 10-19 3 20-29 10 30-39 5 40-49 1 50-59 - 60-69 1 70-74 - 75- -
289	Cronkhite-Canada syndrome [Gast] 💬 289. Cronkhite-Canada syndrome × [Gast] Gastrointestinal diseases	1 trial    | 0 / 0 / 0 / 0 💬 289. Cronkhite-Canada syndrome × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	208 patients Age distribution💬 289. Cronkhite-Canada syndrome × Age Num 0-9 - 10-19 - 20-29 - 30-39 2 40-49 7 50-59 30 60-69 62 70-74 50 75- 57
290	Chronic nonspecific multiple ulcers of the small intestine [Gast] 💬 "Nonspecific multiple ulcers in the small intestine" 290. Chronic nonspecific multiple ulcers of the small intestine × [Gast] Gastrointestinal diseases	1 trial    | 1 / 1 / 0 / 0 💬 290. Chronic nonspecific multiple ulcers of the small intestine × Some trials have no Phase data.	1 drug   [ 1 drug ]	1 gene   1 pathway	87 patients Age distribution💬 290. Chronic nonspecific multiple ulcers of the small intestine × Age Num 0-9 - 10-19 2 20-29 4 30-39 7 40-49 15 50-59 20 60-69 19 70-74 9 75- 11
291	Hirschsprung disease, entire colon type [Gast] 💬 entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" 291. Hirschsprung disease, entire colon type × [Gast] Gastrointestinal diseases	14 trials    | 0 / 1 / 2 / 1 💬 291. Hirschsprung disease, entire colon type × Some trials have no Phase data.	26 drugs   [ 9 drugs ]	-	19 patients Age distribution💬 291. Hirschsprung disease, entire colon type × Age Num 0-9 1 10-19 2 20-29 11 30-39 1 40-49 2 50-59 2 60-69 - 70-74 - 75- -
292	Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure" 292. Cloacal exstrophy × [Gast] Gastrointestinal diseases	-	-	-	20 patients Age distribution💬 292. Cloacal exstrophy × Age Num 0-9 - 10-19 1 20-29 13 30-39 3 40-49 1 50-59 2 60-69 - 70-74 - 75- -
293	Persistent cloaca [Gast] 💬 293. Persistent cloaca × [Gast] Gastrointestinal diseases	-	-	-	50 patients Age distribution💬 293. Persistent cloaca × Age Num 0-9 - 10-19 1 20-29 36 30-39 9 40-49 3 50-59 1 60-69 - 70-74 - 75- -
295	Infant huge hepatic hemangioma [Gast] 💬 "Infant giant liver hemangioma", "Giant hepatic haemangiomas", "Critical infantile hepatic haemangioma" 295. Infant huge hepatic hemangioma × [Gast] Gastrointestinal diseases	-	-	-	-
296	Biliary atresia [Gast] 💬 296. Biliary atresia × [Gast] Gastrointestinal diseases	73 trials    | 1 / 21 / 13 / 8 💬 296. Biliary atresia × Some trials have no Phase data.	67 drugs   [ 36 drugs ]	51 genes   68 pathways	521 patients Age distribution💬 296. Biliary atresia × Age Num 0-9 3 10-19 6 20-29 365 30-39 88 40-49 47 50-59 11 60-69 1 70-74 - 75- -
297	Alagille syndrome [Gast] 💬 297. Alagille syndrome × [Gast] Gastrointestinal diseases	45 trials    | 0 / 19 / 14 / 1 💬 297. Alagille syndrome × Some trials have no Phase data.	15 drugs   [ 8 drugs ]	3 genes   5 pathways	48 patients Age distribution💬 297. Alagille syndrome × Age Num 0-9 1 10-19 2 20-29 27 30-39 12 40-49 4 50-59 1 60-69 1 70-74 - 75- -
298	Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis" 298. Hereditary pancreatitis × [Gast] Gastrointestinal diseases	110 trials    | 19 / 29 / 16 / 10 💬 298. Hereditary pancreatitis × Some trials have no Phase data.	142 drugs   [ 59 drugs ]	61 genes   154 pathways	36 patients Age distribution💬 298. Hereditary pancreatitis × Age Num 0-9 1 10-19 - 20-29 15 30-39 8 40-49 5 50-59 4 60-69 2 70-74 1 75- -
299	Cystic fibrosis [Gast] 💬 "CF" 299. Cystic fibrosis × [Gast] Gastrointestinal diseases	1,826 trials    | 210 / 472 / 623 / 136 💬 299. Cystic fibrosis × Some trials have no Phase data.	1,271 drugs   [ 246 drugs ]	118 genes   180 pathways	15 patients Age distribution💬 299. Cystic fibrosis × Age Num 0-9 - 10-19 1 20-29 7 30-39 2 40-49 4 50-59 - 60-69 1 70-74 - 75- -
338	Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC" 338. Progressive familial intrahepatic cholestasis × [Gast] Gastrointestinal diseases	62 trials    | 0 / 4 / 41 / 0 💬 338. Progressive familial intrahepatic cholestasis × Some trials have no Phase data.	14 drugs   [ 5 drugs ]	2 genes   3 pathways	4 patients Age distribution💬 338. Progressive familial intrahepatic cholestasis × Age Num 0-9 - 10-19 - 20-29 4 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
346	Primary extrahepatic portal vein obstruction [Gast] 💬 "EHPVO" 346. Primary extrahepatic portal vein obstruction × [Gast] Gastrointestinal diseases	-	-	-	-