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)
47	Buerger disease [Card] 💬 "Thromboangiitis obliterans"	9 trials    | 0 / 3 / 1 / 0 💬	14 drugs   [ 7 drugs ]	5 genes   16 pathways	1,609 patients Age distribution💬
57	Idiopathic dilated cardiomyopathy [Card] 💬	11 trials    | 3 / 6 / 1 / 3 💬	23 drugs   [ 12 drugs ]	9 genes   35 pathways	18,234 patients Age distribution💬
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"	126 trials    | 21 / 55 / 43 / 14 💬	135 drugs   [ 42 drugs ]	46 genes   162 pathways	4,318 patients Age distribution💬
59	Restricted cardiomyopathy [Card] 💬 "Restrictive cardiomyopathy", "Constrictive cardiomyopathy"	-	-	-	60 patients Age distribution💬
167	Marfan syndrome [Card] 💬	21 trials    | 15 / 6 / 12 / 4 💬	40 drugs   [ 11 drugs ]	10 genes   50 pathways	1,173 patients Age distribution💬
179	Williams syndrome [Card] 💬	5 trials    | 0 / 0 / 0 / 1 💬	14 drugs   [ 7 drugs ]	8 genes   32 pathways	56 patients Age distribution💬
188	Polysplenia syndrome [Card] 💬	-	-	-	63 patients Age distribution💬
189	Asplenia syndrome [Card] 💬	-	-	-	91 patients Age distribution💬
203	22q11.2 deletion syndrome [Card] 💬	5 trials    | 2 / 1 / 1 / 0 💬	7 drugs   [ 1 drug ]	14 genes   23 pathways	73 patients Age distribution💬
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"	-	-	-	38 patients Age distribution💬
208	Corrected transposition of great arteries [Card] 💬	-	-	-	208 patients Age distribution💬
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"	-	-	-	288 patients Age distribution💬
210	Single Ventricle [Card] 💬 "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome"	51 trials    | 23 / 15 / 24 / 6 💬	53 drugs   [ 22 drugs ]	32 genes   67 pathways	479 patients Age distribution💬
211	Hypoplastic left heart syndrome [Card] 💬 "HLHS"	22 trials    | 10 / 11 / 1 / 0 💬	29 drugs   [ 9 drugs ]	5 genes   14 pathways	70 patients Age distribution💬
212	Tricuspid atresia [Card] 💬 "TA"	5 trials    | 2 / 2 / 0 / 0 💬	6 drugs   [ 6 drugs ]	8 genes   12 pathways	199 patients Age distribution💬
213	Pulmonary atresia without ventricular septum defect [Card] 💬 "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"	-	-	-	157 patients Age distribution💬
214	Pulmonary atresia with ventricular septum defect [Card] 💬 "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with pulmonary atresia", "TFPA"	2 trials    | 0 / 0 / 0 / 0 💬	4 drugs   [ 4 drugs ]	-	123 patients Age distribution💬
215	Tetralogy of Fallot [Card] 💬 "Fallot tetralogy"	18 trials    | 4 / 5 / 2 / 1 💬	26 drugs   [ 14 drugs ]	13 genes   45 pathways	760 patients Age distribution💬
216	Double outlet right ventricle [Card] 💬	-	-	-	286 patients Age distribution💬
217	Ebstein disease [Card] 💬 "Ebstein malformation"	-	-	-	141 patients Age distribution💬
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion [Card] 💬 oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation"	15 trials    | 1 / 7 / 1 / 2 💬	24 drugs   [ 10 drugs ]	3 genes   105 pathways	49 patients Age distribution💬
280	Huge arteriovenous malformation with cervicofacial or limb lesion [Card] 💬 "Huge arteriovenous malformation", "Arteriovenous malformation"	27 trials    | 14 / 7 / 2 / 6 💬	30 drugs   [ 15 drugs ]	14 genes   153 pathways	103 patients Age distribution💬
281	Klippel-Trenaunay-Weber syndrome [Card] 💬 "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS"	2 trials    | 0 / 0 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   51 pathways	244 patients Age distribution💬
311	Congenital tricuspid stenosis [Card] 💬	-	-	-	4 patients Age distribution💬
312	Congenital mitral stenosis [Card] 💬	-	-	-	13 patients Age distribution💬
313	Congenital pulmonary vein stenosis [Card] 💬	-	-	-	2 patients Age distribution💬
314	Vascular sling [Card] 💬	-	-	-	2 patients Age distribution💬