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 (FY2022)
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	211 patients Age distribution💬
92	Idiopathic portal hypertension [Gast] 💬 "Banti syndrome"	-	-	-	313 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 trials    | 148 / 136 / 110 / 64 💬	252 drugs   [ 59 drugs ]	35 genes   115 pathways	16,625 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 trials    | 68 / 66 / 51 / 10 💬	118 drugs   [ 39 drugs ]	18 genes   141 pathways	1,106 patients Age distribution💬
95	Autoimmune hepatitis [Gast] 💬	52 trials    | 11 / 25 / 11 / 11 💬	68 drugs   [ 27 drugs ]	18 genes   111 pathways	7,081 patients Age distribution💬
96	Crohn disease [Gast] 💬 "Terminal ileitis"	2,442 trials    | 898 / 766 / 1004 / 332 💬	1,278 drugs   [ 248 drugs ]	142 genes   209 pathways	50,184 patients Age distribution💬
97	Ulcerative colitis [Gast] 💬	2,630 trials    | 943 / 957 / 1089 / 298 💬	1,459 drugs   [ 265 drugs ]	144 genes   202 pathways	141,387 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 trials    | 48 / 64 / 90 / 13 💬	149 drugs   [ 39 drugs ]	38 genes   135 pathways	1,280 patients Age distribution💬
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	182 patients Age distribution💬
100	Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬 "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"	-	-	-	2 patients Age distribution💬
101	Congenital isolated hypoganglionosis [Gast] 💬 "Intestinal ganglion cells insignificant disease"	-	-	-	16 patients Age distribution💬
289	Cronkhite-Canada syndrome [Gast] 💬	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	194 patients Age distribution💬
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	85 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 trials    | 0 / 1 / 2 / 1 💬	24 drugs   [ 15 drugs ]	-	19 patients Age distribution💬
292	Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure"	-	-	-	18 patients Age distribution💬
293	Persistent cloaca [Gast] 💬	-	-	-	50 patients Age distribution💬
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	449 patients Age distribution💬
297	Alagille syndrome [Gast] 💬	45 trials    | 7 / 21 / 16 / 2 💬	21 drugs   [ 10 drugs ]	3 genes   5 pathways	44 patients Age distribution💬
298	Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis"	95 trials    | 23 / 25 / 17 / 7 💬	148 drugs   [ 51 drugs ]	53 genes   142 pathways	33 patients Age distribution💬
299	Cystic fibrosis [Gast] 💬	1,695 trials    | 668 / 515 / 636 / 214 💬	1,527 drugs   [ 268 drugs ]	111 genes   174 pathways	13 patients Age distribution💬
338	Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC"	60 trials    | 27 / 18 / 40 / 5 💬	26 drugs   [ 6 drugs ]	2 genes   2 pathways	3 patients Age distribution💬