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 (FY2024)
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	1,310 patients Age distribution💬 47. Buerger disease × Age Num 0-9 - 10-19 1 20-29 7 30-39 19 40-49 93 50-59 279 60-69 292 70-74 187 75- 432
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	17,958 patients Age distribution💬 57. Idiopathic dilated cardiomyopathy × Age Num 0-9 2 10-19 4 20-29 241 30-39 685 40-49 1,825 50-59 3,950 60-69 4,539 70-74 2,387 75- 4,325
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	4,466 patients Age distribution💬 58. Hypertrophic cardiomyopathy × Age Num 0-9 - 10-19 5 20-29 144 30-39 169 40-49 329 50-59 751 60-69 993 70-74 654 75- 1,421
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   [ - ]	-	65 patients Age distribution💬 59. Restricted cardiomyopathy × Age Num 0-9 - 10-19 1 20-29 23 30-39 13 40-49 6 50-59 7 60-69 8 70-74 2 75- 5
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	1,411 patients Age distribution💬 167. Marfan syndrome × Age Num 0-9 - 10-19 26 20-29 239 30-39 281 40-49 342 50-59 304 60-69 157 70-74 40 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 4 20-29 38 30-39 10 40-49 7 50-59 3 60-69 - 70-74 - 75- -
188	Polysplenia syndrome [Card] 💬 188. Polysplenia syndrome × [Card] Cardiovascular diseases	-	-	-	63 patients Age distribution💬 188. Polysplenia syndrome × Age Num 0-9 1 10-19 2 20-29 38 30-39 15 40-49 1 50-59 3 60-69 2 70-74 - 75- 1
189	Asplenia syndrome [Card] 💬 189. Asplenia syndrome × [Card] Cardiovascular diseases	-	-	-	104 patients Age distribution💬 189. Asplenia syndrome × Age Num 0-9 - 10-19 1 20-29 82 30-39 17 40-49 4 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	95 patients Age distribution💬 203. 22q11.2 deletion syndrome × Age Num 0-9 - 10-19 6 20-29 54 30-39 19 40-49 9 50-59 6 60-69 1 70-74 - 75- -
207	Persistent truncus arteriosus [Card] 💬 "Truncus arteriosus communis" 207. Persistent truncus arteriosus × [Card] Cardiovascular diseases	-	-	-	50 patients Age distribution💬 207. Persistent truncus arteriosus × Age Num 0-9 - 10-19 - 20-29 36 30-39 11 40-49 2 50-59 1 60-69 - 70-74 - 75- -
208	Corrected transposition of great arteries [Card] 💬 208. Corrected transposition of great arteries × [Card] Cardiovascular diseases	-	-	-	271 patients Age distribution💬 208. Corrected transposition of great arteries × Age Num 0-9 1 10-19 4 20-29 113 30-39 49 40-49 44 50-59 31 60-69 17 70-74 5 75- 7
209	Complete transposition of great vessel [Card] 💬 "Complete transposition of great arteries", "Complete TGA" 209. Complete transposition of great vessel × [Card] Cardiovascular diseases	-	-	-	379 patients Age distribution💬 209. Complete transposition of great vessel × Age Num 0-9 1 10-19 5 20-29 232 30-39 73 40-49 54 50-59 13 60-69 1 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	620 patients Age distribution💬 210. Single Ventricle × Age Num 0-9 - 10-19 11 20-29 445 30-39 92 40-49 57 50-59 14 60-69 - 70-74 1 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	107 patients Age distribution💬 211. Hypoplastic left heart syndrome × Age Num 0-9 1 10-19 2 20-29 101 30-39 3 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	248 patients Age distribution💬 212. Tricuspid atresia × Age Num 0-9 1 10-19 2 20-29 160 30-39 53 40-49 22 50-59 8 60-69 2 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	-	-	-	224 patients Age distribution💬 213. Pulmonary atresia without ventricular septum defect × Age Num 0-9 1 10-19 8 20-29 159 30-39 40 40-49 13 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 ]	-	173 patients Age distribution💬 214. Pulmonary atresia with ventricular septum defect × Age Num 0-9 - 10-19 5 20-29 119 30-39 32 40-49 13 50-59 2 60-69 2 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	995 patients Age distribution💬 215. Tetralogy of Fallot × Age Num 0-9 3 10-19 25 20-29 481 30-39 171 40-49 146 50-59 110 60-69 45 70-74 9 75- 5
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	404 patients Age distribution💬 216. Double outlet right ventricle × Age Num 0-9 5 10-19 6 20-29 302 30-39 62 40-49 21 50-59 5 60-69 2 70-74 1 75- -
217	Ebstein disease [Card] 💬 "Ebstein malformation" 217. Ebstein disease × [Card] Cardiovascular diseases	-	-	-	158 patients Age distribution💬 217. Ebstein disease × Age Num 0-9 1 10-19 3 20-29 51 30-39 18 40-49 19 50-59 23 60-69 25 70-74 7 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	79 patients Age distribution💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Age Num 0-9 - 10-19 2 20-29 19 30-39 12 40-49 16 50-59 13 60-69 11 70-74 4 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	126 patients Age distribution💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Age Num 0-9 - 10-19 1 20-29 28 30-39 26 40-49 25 50-59 25 60-69 12 70-74 7 75- 2
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	300 patients Age distribution💬 281. Klippel-Trenaunay-Weber syndrome × Age Num 0-9 2 10-19 15 20-29 69 30-39 52 40-49 50 50-59 61 60-69 34 70-74 9 75- 8
311	Congenital tricuspid stenosis [Card] 💬 311. Congenital tricuspid stenosis × [Card] Cardiovascular diseases	-	-	-	7 patients Age distribution💬 311. Congenital tricuspid stenosis × Age Num 0-9 1 10-19 - 20-29 6 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
312	Congenital mitral stenosis [Card] 💬 312. Congenital mitral stenosis × [Card] Cardiovascular diseases	-	-	-	24 patients Age distribution💬 312. Congenital mitral stenosis × Age Num 0-9 - 10-19 - 20-29 20 30-39 1 40-49 2 50-59 1 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- -