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)
66	IgA nephropathy [Kid] 💬 "IgA nephritis", "Berger disease", "IgA-IgG nephropathy"	275 trials    | 30 / 87 / 97 / 30 💬	258 drugs   [ 82 drugs ]	36 genes   140 pathways	13,354 patients Age distribution💬 66. IgA nephropathy × Age Num 0-9 - 10-19 98 20-29 1,260 30-39 1,860 40-49 3,000 50-59 3,149 60-69 2,204 70-74 995 75- 788
67	Polycystic kidney disease [Kid] 💬 "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD"	221 trials    | 97 / 78 / 110 / 29 💬	212 drugs   [ 55 drugs ]	40 genes   151 pathways	12,790 patients Age distribution💬 67. Polycystic kidney disease × Age Num 0-9 - 10-19 1 20-29 210 30-39 1,132 40-49 3,008 50-59 3,912 60-69 2,558 70-74 1,029 75- 940
109	Atypical hemolytic uremic syndrome [Kid] 💬 "aHUS"	114 trials    | 75 / 41 / 54 / 18 💬	36 drugs   [ 7 drugs ]	3 genes   11 pathways	81 patients Age distribution💬 109. Atypical hemolytic uremic syndrome × Age Num 0-9 - 10-19 1 20-29 10 30-39 21 40-49 12 50-59 13 60-69 11 70-74 2 75- 11
218	Alport syndrome [Kid] 💬 "X chromosome-linked Alport syndrome", "Autosomal recessive Alport syndrome"	30 trials    | 11 / 20 / 9 / 3 💬	36 drugs   [ 15 drugs ]	8 genes   46 pathways	258 patients Age distribution💬 218. Alport syndrome × Age Num 0-9 - 10-19 - 20-29 70 30-39 52 40-49 46 50-59 49 60-69 29 70-74 7 75- 5
219	Galloway-Mowat syndrome [Kid] 💬	-	-	-	1 patient Age distribution💬 219. Galloway-Mowat syndrome × Age Num 0-9 - 10-19 1 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
220	Rapidly progressive glomerulonephritis [Kid] 💬	2 trials    | 0 / 1 / 2 / 0 💬	4 drugs   [ 2 drugs ]	1 gene   1 pathway	1,245 patients Age distribution💬 220. Rapidly progressive glomerulonephritis × Age Num 0-9 - 10-19 - 20-29 18 30-39 24 40-49 38 50-59 105 60-69 177 70-74 262 75- 621
221	Anti-glomerular basement membrane disease [Kid] 💬	1 trial    | 0 / 1 / 0 / 0 💬	3 drugs   [ 1 drug ]	-	364 patients Age distribution💬 221. Anti-glomerular basement membrane disease × Age Num 0-9 - 10-19 2 20-29 8 30-39 7 40-49 16 50-59 43 60-69 80 70-74 63 75- 145
222	Primary nephrotic syndrome [Kid] 💬 "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN"	310 trials    | 96 / 128 / 65 / 43 💬	295 drugs   [ 117 drugs ]	63 genes   194 pathways	12,889 patients Age distribution💬 222. Primary nephrotic syndrome × Age Num 0-9 1 10-19 76 20-29 1,842 30-39 1,444 40-49 1,822 50-59 1,969 60-69 1,979 70-74 1,463 75- 2,293
223	Primary membranoproliferative glomerulonephritis [Kid] 💬 "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Mesangial proliferative primary membranoproliferative glomerulonephritis type I", "Mesangial proliferative primary MPGN I", "Primary membranoproliferative glomerulonephritis type I, chronic / nest-like type", "Primary MPGN I, chronic / nest-like type", "Primary membranoproliferative glomerulonephritis type I, acute / nest-like type", "Primary MPGN I, acute / nest-like type", "Primary membranoproliferative glomerulonephritis type I, chronic / diffuse type", "Primary MPGN I, chronic / diffuse type", "Primary membranoproliferative glomerulonephritis type I, non-lobed type", "Primary MPGN I, non-lobed type", "Primary membranoproliferative glomerulonephritis type I, acute / diffuse type", "Primary MPGN I, acute / diffuse type", "Primary membranoproliferative glomerulonephritis type I, intraductal proliferation type", "Primary MPGN I, intraductal proliferation type", "Primary membranoproliferative glomerulonephritis type I, lobation type", "Primary MPGN I, lobation type", "Primary membranoproliferative glomerulonephritis type I, end-of-life type", "Primary MPGN I, end-of-life type"	-	-	-	373 patients Age distribution💬 223. Primary membranoproliferative glomerulonephritis × Age Num 0-9 - 10-19 3 20-29 61 30-39 38 40-49 42 50-59 61 60-69 61 70-74 43 75- 64
224	Purpura nephritis [Kid] 💬	16 trials    | 2 / 3 / 0 / 4 💬	43 drugs   [ 21 drugs ]	15 genes   58 pathways	1,037 patients Age distribution💬 224. Purpura nephritis × Age Num 0-9 - 10-19 3 20-29 140 30-39 111 40-49 173 50-59 172 60-69 162 70-74 107 75- 169
225	Congenital nephrogenic diabetes insipidus [Kid] 💬 "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"	15 trials    | 7 / 5 / 1 / 3 💬	48 drugs   [ 18 drugs ]	31 genes   65 pathways	53 patients Age distribution💬 225. Congenital nephrogenic diabetes insipidus × Age Num 0-9 1 10-19 - 20-29 26 30-39 7 40-49 11 50-59 2 60-69 3 70-74 1 75- 2
226	Interstitial cystitis with Hunners ulcer [Kid] 💬 "Interstitial cystitis"	145 trials    | 48 / 58 / 27 / 17 💬	156 drugs   [ 51 drugs ]	64 genes   146 pathways	1,016 patients Age distribution💬 226. Interstitial cystitis with Hunners ulcer × Age Num 0-9 - 10-19 2 20-29 10 30-39 29 40-49 87 50-59 154 60-69 231 70-74 192 75- 311
315	Nail-Patella syndrome [Kid] 💬 "LMX1B-associated nephropathy"	-	-	-	12 patients Age distribution💬 315. Nail-Patella syndrome × Age Num 0-9 - 10-19 - 20-29 4 30-39 2 40-49 1 50-59 3 60-69 - 70-74 1 75- 1
335	Nephronophthisis [Kid] 💬 "NPHP", "NPH"	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	17 patients Age distribution💬 335. Nephronophthisis × Age Num 0-9 - 10-19 3 20-29 12 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -