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)
47	Buerger disease [Card] 💬 "Thromboangiitis obliterans" 47. Buerger disease × [Card] Cardiovascular diseases	14 trials    | 1 / 2 / 1 / 2 💬 47. Buerger disease × Some trials have no Phase data.	18 drugs   [ 13 drugs ]	7 genes   19 pathways	1,455 patients Age distribution💬 47. Buerger disease × Age Num 0-9 - 10-19 1 20-29 9 30-39 19 40-49 127 50-59 298 60-69 309 70-74 227 75- 465
57	Idiopathic dilated cardiomyopathy [Card] 💬 57. Idiopathic dilated cardiomyopathy × [Card] Cardiovascular diseases	11 trials    | 3 / 6 / 1 / 3 💬 57. Idiopathic dilated cardiomyopathy × Some trials have no Phase data.	17 drugs   [ 10 drugs ]	9 genes   35 pathways	18,108 patients Age distribution💬 57. Idiopathic dilated cardiomyopathy × Age Num 0-9 - 10-19 11 20-29 251 30-39 709 40-49 1,943 50-59 3,917 60-69 4,538 70-74 2,568 75- 4,171
58	Hypertrophic cardiomyopathy [Card] 💬 "HCM" 58. Hypertrophic cardiomyopathy × [Card] Cardiovascular diseases	181 trials    | 12 / 68 / 62 / 14 💬 58. Hypertrophic cardiomyopathy × Some trials have no Phase data.	136 drugs   [ 40 drugs ]	49 genes   187 pathways	4,388 patients Age distribution💬 58. Hypertrophic cardiomyopathy × Age Num 0-9 - 10-19 6 20-29 148 30-39 168 40-49 316 50-59 703 60-69 1,019 70-74 637 75- 1,391
59	Restricted cardiomyopathy [Card] 💬 "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" 59. Restricted cardiomyopathy × [Card] Cardiovascular diseases	1 trial    | 0 / 0 / 0 / 0 💬 59. Restricted cardiomyopathy × Some trials have no Phase data.	3 drugs   [ - ]	-	64 patients Age distribution💬 59. Restricted cardiomyopathy × Age Num 0-9 - 10-19 1 20-29 25 30-39 11 40-49 5 50-59 8 60-69 10 70-74 - 75- 4
167	Marfan syndrome [Card] 💬 "Loeys-Dietz syndrome", "LDS" 167. Marfan syndrome × [Card] Cardiovascular diseases	23 trials    | 0 / 4 / 11 / 2 💬 167. Marfan syndrome × Some trials have no Phase data.	31 drugs   [ 8 drugs ]	8 genes   51 pathways	1,310 patients Age distribution💬 167. Marfan syndrome × Age Num 0-9 - 10-19 26 20-29 238 30-39 264 40-49 322 50-59 270 60-69 138 70-74 30 75- 22
179	Williams syndrome [Card] 💬 179. Williams syndrome × [Card] Cardiovascular diseases	7 trials    | 0 / 1 / 2 / 2 💬 179. Williams syndrome × Some trials have no Phase data.	11 drugs   [ 7 drugs ]	8 genes   35 pathways	62 patients Age distribution💬 179. Williams syndrome × Age Num 0-9 - 10-19 5 20-29 40 30-39 7 40-49 7 50-59 2 60-69 1 70-74 - 75- -
188	Polysplenia syndrome [Card] 💬 188. Polysplenia syndrome × [Card] Cardiovascular diseases	-	-	-	60 patients Age distribution💬 188. Polysplenia syndrome × Age Num 0-9 1 10-19 1 20-29 40 30-39 12 40-49 1 50-59 3 60-69 2 70-74 - 75- -
189	Asplenia syndrome [Card] 💬 189. Asplenia syndrome × [Card] Cardiovascular diseases	-	-	-	100 patients Age distribution💬 189. Asplenia syndrome × Age Num 0-9 - 10-19 4 20-29 78 30-39 16 40-49 2 50-59 - 60-69 - 70-74 - 75- -
203	22q11.2 deletion syndrome [Card] 💬 203. 22q11.2 deletion syndrome × [Card] Cardiovascular diseases	5 trials    | 2 / 1 / 1 / 0 💬 203. 22q11.2 deletion syndrome × Some trials have no Phase data.	7 drugs   [ 1 drug ]	14 genes   24 pathways	87 patients Age distribution💬 203. 22q11.2 deletion syndrome × Age Num 0-9 1 10-19 8 20-29 47 30-39 14 40-49 11 50-59 5 60-69 1 70-74 - 75- -
207	Persistent truncus arteriosus [Card] 💬 "Truncus arteriosus communis" 207. Persistent truncus arteriosus × [Card] Cardiovascular diseases	-	-	-	51 patients Age distribution💬 207. Persistent truncus arteriosus × Age Num 0-9 - 10-19 4 20-29 36 30-39 8 40-49 3 50-59 - 60-69 - 70-74 - 75- -
208	Corrected transposition of great arteries [Card] 💬 208. Corrected transposition of great arteries × [Card] Cardiovascular diseases	-	-	-	247 patients Age distribution💬 208. Corrected transposition of great arteries × Age Num 0-9 1 10-19 4 20-29 98 30-39 50 40-49 41 50-59 29 60-69 15 70-74 4 75- 5
209	Complete transposition of great vessel [Card] 💬 "Complete transposition of great arteries", "Complete TGA" 209. Complete transposition of great vessel × [Card] Cardiovascular diseases	-	-	-	334 patients Age distribution💬 209. Complete transposition of great vessel × Age Num 0-9 1 10-19 6 20-29 216 30-39 54 40-49 48 50-59 7 60-69 2 70-74 - 75- -
210	Single Ventricle [Card] 💬 "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" 210. Single Ventricle × [Card] Cardiovascular diseases	56 trials    | 11 / 15 / 22 / 4 💬 210. Single Ventricle × Some trials have no Phase data.	49 drugs   [ 25 drugs ]	35 genes   77 pathways	554 patients Age distribution💬 210. Single Ventricle × Age Num 0-9 - 10-19 8 20-29 404 30-39 78 40-49 52 50-59 10 60-69 - 70-74 2 75- -
211	Hypoplastic left heart syndrome [Card] 💬 "HLHS" 211. Hypoplastic left heart syndrome × [Card] Cardiovascular diseases	23 trials    | 10 / 7 / 1 / 0 💬 211. Hypoplastic left heart syndrome × Some trials have no Phase data.	29 drugs   [ 11 drugs ]	5 genes   13 pathways	87 patients Age distribution💬 211. Hypoplastic left heart syndrome × Age Num 0-9 1 10-19 4 20-29 82 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
212	Tricuspid atresia [Card] 💬 "TA" 212. Tricuspid atresia × [Card] Cardiovascular diseases	5 trials    | 1 / 0 / 0 / 0 💬 212. Tricuspid atresia × Some trials have no Phase data.	5 drugs   [ 6 drugs ]	8 genes   13 pathways	223 patients Age distribution💬 212. Tricuspid atresia × Age Num 0-9 1 10-19 3 20-29 144 30-39 46 40-49 20 50-59 8 60-69 1 70-74 - 75- -
213	Pulmonary atresia without ventricular septum defect [Card] 💬 "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" 213. Pulmonary atresia without ventricular septum defect × [Card] Cardiovascular diseases	-	-	-	191 patients Age distribution💬 213. Pulmonary atresia without ventricular septum defect × Age Num 0-9 - 10-19 12 20-29 127 30-39 35 40-49 14 50-59 3 60-69 - 70-74 - 75- -
214	Pulmonary atresia with ventricular septum defect [Card] 💬 "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia" 214. Pulmonary atresia with ventricular septum defect × [Card] Cardiovascular diseases	3 trials    | 0 / 0 / 0 / 0 💬 214. Pulmonary atresia with ventricular septum defect × Some trials have no Phase data.	5 drugs   [ 6 drugs ]	-	140 patients Age distribution💬 214. Pulmonary atresia with ventricular septum defect × Age Num 0-9 - 10-19 - 20-29 101 30-39 28 40-49 7 50-59 3 60-69 1 70-74 - 75- -
215	Tetralogy of Fallot [Card] 💬 "Fallot tetralogy" 215. Tetralogy of Fallot × [Card] Cardiovascular diseases	24 trials    | 3 / 5 / 3 / 1 💬 215. Tetralogy of Fallot × Some trials have no Phase data.	32 drugs   [ 17 drugs ]	15 genes   48 pathways	869 patients Age distribution💬 215. Tetralogy of Fallot × Age Num 0-9 4 10-19 23 20-29 437 30-39 127 40-49 127 50-59 102 60-69 37 70-74 8 75- 4
216	Double outlet right ventricle [Card] 💬 216. Double outlet right ventricle × [Card] Cardiovascular diseases	1 trial    | 0 / 0 / 0 / 0 💬 216. Double outlet right ventricle × Some trials have no Phase data.	7 drugs   [ 1 drug ]	3 genes   14 pathways	345 patients Age distribution💬 216. Double outlet right ventricle × Age Num 0-9 4 10-19 13 20-29 254 30-39 47 40-49 21 50-59 3 60-69 2 70-74 1 75- -
217	Ebstein disease [Card] 💬 "Ebstein malformation" 217. Ebstein disease × [Card] Cardiovascular diseases	-	-	-	148 patients Age distribution💬 217. Ebstein disease × Age Num 0-9 1 10-19 1 20-29 45 30-39 16 40-49 19 50-59 26 60-69 20 70-74 9 75- 11
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion [Card] 💬 oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation", "Gigantic venous malformation" 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × [Card] Cardiovascular diseases	24 trials    | 1 / 8 / 1 / 3 💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Some trials have no Phase data.	24 drugs   [ 12 drugs ]	6 genes   132 pathways	50 patients Age distribution💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Age Num 0-9 1 10-19 1 20-29 14 30-39 8 40-49 9 50-59 6 60-69 6 70-74 3 75- 2
280	Huge arteriovenous malformation with cervicofacial or limb lesion [Card] 💬 "Huge arteriovenous malformation", "Arteriovenous malformation", "Gigantic arteriovenous malformation" 280. Huge arteriovenous malformation with cervicofacial or limb lesion × [Card] Cardiovascular diseases	29 trials    | 4 / 6 / 0 / 2 💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Some trials have no Phase data.	31 drugs   [ 15 drugs ]	12 genes   163 pathways	120 patients Age distribution💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Age Num 0-9 - 10-19 1 20-29 25 30-39 24 40-49 26 50-59 26 60-69 10 70-74 4 75- 4
281	Klippel-Trenaunay-Weber syndrome [Card] 💬 "Klippel-Trénaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" 281. Klippel-Trenaunay-Weber syndrome × [Card] Cardiovascular diseases	3 trials    | 0 / 0 / 0 / 0 💬 281. Klippel-Trenaunay-Weber syndrome × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	1 gene   49 pathways	264 patients Age distribution💬 281. Klippel-Trenaunay-Weber syndrome × Age Num 0-9 2 10-19 19 20-29 63 30-39 46 40-49 46 50-59 49 60-69 28 70-74 5 75- 6
311	Congenital tricuspid stenosis [Card] 💬 311. Congenital tricuspid stenosis × [Card] Cardiovascular diseases	-	-	-	5 patients Age distribution💬 311. Congenital tricuspid stenosis × Age Num 0-9 1 10-19 1 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
312	Congenital mitral stenosis [Card] 💬 312. Congenital mitral stenosis × [Card] Cardiovascular diseases	-	-	-	20 patients Age distribution💬 312. Congenital mitral stenosis × Age Num 0-9 - 10-19 1 20-29 16 30-39 1 40-49 2 50-59 - 60-69 - 70-74 - 75- -
313	Congenital pulmonary vein stenosis [Card] 💬 "Congenital pulmonary venous obstruction" 313. Congenital pulmonary vein stenosis × [Card] Cardiovascular diseases	-	-	-	3 patients Age distribution💬 313. Congenital pulmonary vein stenosis × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
314	Vascular sling [Card] 💬 314. Vascular sling × [Card] Cardiovascular diseases	-	-	-	2 patients Age distribution💬 314. Vascular sling × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -