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)
47	Buerger disease [Card] 💬 "Thromboangiitis obliterans" 47. Buerger disease × [Card] Cardiovascular diseases	9 trials    | 0 / 3 / 1 / 0 💬 47. Buerger disease × Some trials have no Phase data.	14 drugs   [ 7 drugs ]	5 genes   16 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.	23 drugs   [ 12 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", "Nonobstructive hypertrophic cardiomyopathy", "Nonobstructive HCM", "Obstructive hypertrophic cardiomyopathy", "Obstructive HCM", "OHCM", "Hypertrophic obstructive cardiomyopathy", "HOCM", "Mid-ventricular obstructive hypertrophic cardiomyopathy", "MVOHCM", "Mid-ventricular hypertrophic obstructive cardiomyopathy", "MVHOCM", "Apical hypertrophic cardiomyopathy", "APH", "Expansion phase hypertrophic cardiomyopathy" 58. Hypertrophic cardiomyopathy × [Card] Cardiovascular diseases	126 trials    | 21 / 55 / 43 / 14 💬 58. Hypertrophic cardiomyopathy × Some trials have no Phase data.	135 drugs   [ 42 drugs ]	46 genes   162 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	-	-	-	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] 💬 167. Marfan syndrome × [Card] Cardiovascular diseases	21 trials    | 15 / 6 / 12 / 4 💬 167. Marfan syndrome × Some trials have no Phase data.	40 drugs   [ 11 drugs ]	10 genes   50 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	5 trials    | 0 / 0 / 0 / 1 💬 179. Williams syndrome × Some trials have no Phase data.	14 drugs   [ 7 drugs ]	8 genes   32 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   23 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] 💬 "Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV" 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", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV" 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	51 trials    | 23 / 15 / 24 / 6 💬 210. Single Ventricle × Some trials have no Phase data.	53 drugs   [ 22 drugs ]	32 genes   67 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	22 trials    | 10 / 11 / 1 / 0 💬 211. Hypoplastic left heart syndrome × Some trials have no Phase data.	29 drugs   [ 9 drugs ]	5 genes   14 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    | 2 / 2 / 0 / 0 💬 212. Tricuspid atresia × Some trials have no Phase data.	6 drugs   [ 6 drugs ]	8 genes   12 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", "Tetralogy of Fallot with pulmonary atresia", "TFPA" 214. Pulmonary atresia with ventricular septum defect × [Card] Cardiovascular diseases	2 trials    | 0 / 0 / 0 / 0 💬 214. Pulmonary atresia with ventricular septum defect × Some trials have no Phase data.	4 drugs   [ 4 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	18 trials    | 4 / 5 / 2 / 1 💬 215. Tetralogy of Fallot × Some trials have no Phase data.	26 drugs   [ 14 drugs ]	13 genes   45 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	-	-	-	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" 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × [Card] Cardiovascular diseases	15 trials    | 1 / 7 / 1 / 2 💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Some trials have no Phase data.	24 drugs   [ 10 drugs ]	3 genes   105 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" 280. Huge arteriovenous malformation with cervicofacial or limb lesion × [Card] Cardiovascular diseases	27 trials    | 14 / 7 / 2 / 6 💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Some trials have no Phase data.	30 drugs   [ 15 drugs ]	14 genes   153 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-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" 281. Klippel-Trenaunay-Weber syndrome × [Card] Cardiovascular diseases	2 trials    | 0 / 0 / 0 / 0 💬 281. Klippel-Trenaunay-Weber syndrome × Some trials have no Phase data.	2 drugs   [ 1 drug ]	1 gene   51 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] 💬 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- -