Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 43,690 / Drugs : 27,527 - ( DrugBank : 2,441 ) / Drug target genes : 714 - Drug target pathways : 315

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients, FY2024 (corrected)
91	Budd-Chiari syndrome [Gast] 💬 "BCS" 91. Budd-Chiari syndrome × [Gast] Gastrointestinal diseases	4 trials    | 0 / 0 / 0 / 1 💬 91. Budd-Chiari syndrome × Some trials have no Phase data.	5 drugs   [ 4 drugs ]	4 genes   12 pathways	222 patients Age distribution💬 91. Budd-Chiari syndrome × Age Num 0-9 - 10-19 2 20-29 15 30-39 22 40-49 53 50-59 62 60-69 30 70-74 15 75- 23
92	Idiopathic portal hypertension [Gast] 💬 "Banti syndrome" 92. Idiopathic portal hypertension × [Gast] Gastrointestinal diseases	-	-	-	331 patients Age distribution💬 92. Idiopathic portal hypertension × Age Num 0-9 - 10-19 2 20-29 27 30-39 26 40-49 53 50-59 74 60-69 66 70-74 36 75- 47
93	Primary biliary cholangitis [Gast] 💬 "Primary biliary cirrhosis", "PBC" 93. Primary biliary cholangitis × [Gast] Gastrointestinal diseases	371 trials    | 25 / 151 / 124 / 44 💬 93. Primary biliary cholangitis × Some trials have no Phase data.	286 drugs   [ 56 drugs ]	35 genes   105 pathways	16,077 patients Age distribution💬 93. Primary biliary cholangitis × Age Num 0-9 - 10-19 - 20-29 8 30-39 147 40-49 797 50-59 2,645 60-69 4,294 70-74 2,772 75- 5,414
94	Primary sclerosing cholangitis [Gast] 💬 "PSC" 94. Primary sclerosing cholangitis × [Gast] Gastrointestinal diseases	189 trials    | 23 / 81 / 52 / 1 💬 94. Primary sclerosing cholangitis × Some trials have no Phase data.	159 drugs   [ 46 drugs ]	22 genes   148 pathways	1,294 patients Age distribution💬 94. Primary sclerosing cholangitis × Age Num 0-9 - 10-19 2 20-29 184 30-39 220 40-49 234 50-59 199 60-69 165 70-74 96 75- 194
95	Autoimmune hepatitis [Gast] 💬 95. Autoimmune hepatitis × [Gast] Gastrointestinal diseases	63 trials    | 4 / 26 / 13 / 7 💬 95. Autoimmune hepatitis × Some trials have no Phase data.	80 drugs   [ 30 drugs ]	24 genes   116 pathways	7,453 patients Age distribution💬 95. Autoimmune hepatitis × Age Num 0-9 1 10-19 6 20-29 105 30-39 215 40-49 520 50-59 1,425 60-69 1,953 70-74 1,204 75- 2,024
96	Crohn disease [Gast] 💬 "CD", "Terminal ileitis", "Inflammatory bowel disease", "IBD" 96. Crohn disease × [Gast] Gastrointestinal diseases	2,888 trials    | 164 / 767 / 1071 / 242 💬 96. Crohn disease × Some trials have no Phase data.	1,678 drugs   [ 247 drugs ]	193 genes   234 pathways	53,654 patients Age distribution💬 96. Crohn disease × Age Num 0-9 3 10-19 584 20-29 9,441 30-39 11,386 40-49 12,118 50-59 11,301 60-69 5,327 70-74 1,481 75- 2,013
97	Ulcerative colitis [Gast] 💬 "UC", "Inflammatory bowel disease", "IBD" 97. Ulcerative colitis × [Gast] Gastrointestinal diseases	3,566 trials    | 182 / 978 / 1058 / 196 💬 97. Ulcerative colitis × Some trials have no Phase data.	2,369 drugs   [ 339 drugs ]	210 genes   245 pathways	151,631 patients Age distribution💬 97. Ulcerative colitis × Age Num 0-9 3 10-19 1,070 20-29 16,027 30-39 23,247 40-49 30,355 50-59 33,953 60-69 23,654 70-74 9,402 75- 13,920
98	Eosinophilic gastro-intestinal disorder [Gast] 💬 "Eosinophilic gastrointestinal disorder", "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	222 trials    | 12 / 76 / 101 / 13 💬 98. Eosinophilic gastro-intestinal disorder × Some trials have no Phase data.	226 drugs   [ 48 drugs ]	48 genes   146 pathways	1,512 patients Age distribution💬 98. Eosinophilic gastro-intestinal disorder × Age Num 0-9 12 10-19 86 20-29 148 30-39 194 40-49 279 50-59 376 60-69 240 70-74 78 75- 99
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	8 trials    | 0 / 6 / 0 / 0 💬 99. Chronic intestinal pseudo-obstruction × Some trials have no Phase data.	13 drugs   [ 3 drugs ]	1 gene   5 pathways	207 patients Age distribution💬 99. Chronic intestinal pseudo-obstruction × Age Num 0-9 - 10-19 - 20-29 27 30-39 29 40-49 32 50-59 48 60-69 38 70-74 12 75- 21
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] 💬 "Isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" 101. Congenital isolated hypoganglionosis × [Gast] Gastrointestinal diseases	-	-	-	23 patients Age distribution💬 101. Congenital isolated hypoganglionosis × Age Num 0-9 - 10-19 2 20-29 14 30-39 5 40-49 - 50-59 1 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 ]	-	224 patients Age distribution💬 289. Cronkhite-Canada syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 6 50-59 29 60-69 62 70-74 60 75- 64
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	88 patients Age distribution💬 290. Chronic nonspecific multiple ulcers of the small intestine × Age Num 0-9 - 10-19 1 20-29 4 30-39 7 40-49 13 50-59 24 60-69 20 70-74 6 75- 13
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	18 trials    | 0 / 1 / 2 / 1 💬 291. Hirschsprung disease, entire colon type × Some trials have no Phase data.	35 drugs   [ 11 drugs ]	-	26 patients Age distribution💬 291. Hirschsprung disease, entire colon type × Age Num 0-9 1 10-19 4 20-29 14 30-39 2 40-49 2 50-59 3 60-69 - 70-74 - 75- -
292	Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure" 292. Cloacal exstrophy × [Gast] Gastrointestinal diseases	-	-	-	21 patients Age distribution💬 292. Cloacal exstrophy × Age Num 0-9 - 10-19 1 20-29 14 30-39 3 40-49 1 50-59 2 60-69 - 70-74 - 75- -
293	Persistent cloaca [Gast] 💬 293. Persistent cloaca × [Gast] Gastrointestinal diseases	-	-	-	54 patients Age distribution💬 293. Persistent cloaca × Age Num 0-9 - 10-19 1 20-29 35 30-39 13 40-49 3 50-59 2 60-69 - 70-74 - 75- -
295	Infant huge hepatic hemangioma [Gast] 💬 "Infant giant liver hemangioma", "Giant hepatic haemangiomas", "Critical infantile hepatic haemangioma", "Infantile hepatic hemangioma" 295. Infant huge hepatic hemangioma × [Gast] Gastrointestinal diseases	-	-	-	-
296	Biliary atresia [Gast] 💬 296. Biliary atresia × [Gast] Gastrointestinal diseases	97 trials    | 6 / 23 / 13 / 8 💬 296. Biliary atresia × Some trials have no Phase data.	89 drugs   [ 40 drugs ]	51 genes   69 pathways	578 patients Age distribution💬 296. Biliary atresia × Age Num 0-9 2 10-19 7 20-29 397 30-39 102 40-49 56 50-59 13 60-69 1 70-74 - 75- -
297	Alagille syndrome [Gast] 💬 297. Alagille syndrome × [Gast] Gastrointestinal diseases	48 trials    | 0 / 19 / 15 / 2 💬 297. Alagille syndrome × Some trials have no Phase data.	22 drugs   [ 6 drugs ]	3 genes   5 pathways	51 patients Age distribution💬 297. Alagille syndrome × Age Num 0-9 2 10-19 1 20-29 28 30-39 14 40-49 3 50-59 2 60-69 1 70-74 - 75- -
298	Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis" 298. Hereditary pancreatitis × [Gast] Gastrointestinal diseases	126 trials    | 20 / 32 / 16 / 12 💬 298. Hereditary pancreatitis × Some trials have no Phase data.	210 drugs   [ 59 drugs ]	65 genes   161 pathways	41 patients Age distribution💬 298. Hereditary pancreatitis × Age Num 0-9 - 10-19 1 20-29 17 30-39 10 40-49 6 50-59 4 60-69 1 70-74 2 75- -
299	Cystic fibrosis [Gast] 💬 "CF" 299. Cystic fibrosis × [Gast] Gastrointestinal diseases	1,885 trials    | 218 / 487 / 627 / 137 💬 299. Cystic fibrosis × Some trials have no Phase data.	1,782 drugs   [ 252 drugs ]	110 genes   190 pathways	17 patients Age distribution💬 299. Cystic fibrosis × Age Num 0-9 - 10-19 - 20-29 7 30-39 2 40-49 5 50-59 1 60-69 - 70-74 2 75- -
338	Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC" 338. Progressive familial intrahepatic cholestasis × [Gast] Gastrointestinal diseases	65 trials    | 0 / 4 / 41 / 0 💬 338. Progressive familial intrahepatic cholestasis × Some trials have no Phase data.	27 drugs   [ 2 drugs ]	2 genes   3 pathways	7 patients Age distribution💬 338. Progressive familial intrahepatic cholestasis × Age Num 0-9 - 10-19 1 20-29 4 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
346	Primary extrahepatic portal vein obstruction [Gast] 💬 "Extrahepatic portal vein obstruction", "EHPVO" 346. Primary extrahepatic portal vein obstruction × [Gast] Gastrointestinal diseases	-	-	-	-