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

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", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome"	4 trials    | 0 / 0 / 0 / 1 💬	5 drugs   [ 4 drugs ]	4 genes   14 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"	-	-	-	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", "Asymptomatic primary biliary cholangitis", "Asymptomatic rimary biliary cirrhosis", "aPBC", "Symptomatic primary biliary cholangitis", "Symptomatic primary biliary cirrhosis", "sPBC"	298 trials    | 148 / 136 / 110 / 64 💬	252 drugs   [ 59 drugs ]	35 genes   115 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", "Intrahepatic primary sclerosing cholangitis", "Intrahepatic PSC", "Extrahepatic primary sclerosing cholangitis", "Extrahepatic PSC", "Intrahepatic and extrahepatic primary sclerosing cholangitis", "Intrahepatic and extrahepatic PSC"	148 trials    | 68 / 66 / 51 / 10 💬	118 drugs   [ 39 drugs ]	18 genes   141 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] 💬	52 trials    | 11 / 25 / 11 / 11 💬	68 drugs   [ 27 drugs ]	18 genes   111 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] 💬 "Terminal ileitis"	2,442 trials    | 898 / 766 / 1004 / 332 💬	1,278 drugs   [ 248 drugs ]	142 genes   209 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] 💬	2,630 trials    | 943 / 957 / 1089 / 298 💬	1,459 drugs   [ 265 drugs ]	144 genes   202 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 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 trials    | 48 / 64 / 90 / 13 💬	149 drugs   [ 39 drugs ]	38 genes   135 pathways	1,371 patients Age distribution💬 98. Eosinophilic gastrointestinal disease × 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"	4 trials    | 0 / 4 / 0 / 0 💬	9 drugs   [ 2 drugs ]	1 gene   4 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"	-	-	-	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"	-	-	-	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] 💬	1 trial    | 0 / 0 / 0 / 0 💬	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"	1 trial    | 1 / 1 / 0 / 0 💬	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"	12 trials    | 0 / 1 / 2 / 1 💬	24 drugs   [ 15 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"	-	-	-	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] 💬	-	-	-	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"	-	-	-	-
296	Biliary atresia [Gast] 💬	71 trials    | 6 / 19 / 12 / 5 💬	70 drugs   [ 39 drugs ]	35 genes   60 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] 💬	45 trials    | 7 / 21 / 16 / 2 💬	21 drugs   [ 10 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"	95 trials    | 23 / 25 / 17 / 7 💬	148 drugs   [ 51 drugs ]	53 genes   142 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] 💬	1,695 trials    | 668 / 515 / 636 / 214 💬	1,527 drugs   [ 268 drugs ]	111 genes   174 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"	60 trials    | 27 / 18 / 40 / 5 💬	26 drugs   [ 6 drugs ]	2 genes   2 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- -