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)
102	Rubinstein-Taybi syndrome [Chr] 💬 "RSTS", "Histone acetylation disorder"	3 trials    | 0 / 2 / 0 / 0 💬	5 drugs   [ 1 drug ]	7 genes   17 pathways	7 patients Age distribution💬
103	Cardio-facio-cutaneous syndrome [Chr] 💬 "CFC syndrome"	-	-	-	8 patients Age distribution💬
104	Costello syndrome [Chr] 💬	-	-	-	9 patients Age distribution💬
105	CHARGE syndrome [Chr] 💬	-	-	-	34 patients Age distribution💬
165	Pachydermoperiostosis [Chr] 💬 "PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP"	-	-	-	19 patients Age distribution💬
168	Ehlers-Danlos syndrome [Chr] 💬 "EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS"	13 trials    | 1 / 2 / 5 / 3 💬	21 drugs   [ 11 drugs ]	11 genes   103 pathways	217 patients Age distribution💬
170	Occipital horn syndrome [Chr] 💬	2 trials    | 1 / 1 / 1 / 0 💬	4 drugs   [ 3 drugs ]	9 genes   14 pathways	2 patients Age distribution💬
173	VATER syndrome [Chr] 💬 "VATER association", "VACTERL association"	-	-	-	14 patients Age distribution💬
174	Nasu-Hakola disease [Chr] 💬 "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"	-	-	-	6 patients Age distribution💬
175	Weaver syndrome [Chr] 💬	-	-	-	-
176	Coffin-Lowry syndrome [Chr] 💬	-	-	-	5 patients Age distribution💬
178	Mowat-Wilson syndrome [Chr] 💬	-	-	-	14 patients Age distribution💬
180	ATR-X syndrome [Chr] 💬 "Alpha-thalassemia mental retardation syndrome"	1 trial    | 0 / 1 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	6 patients Age distribution💬
185	Coffin-Siris syndrome [Chr] 💬	-	-	-	4 patients Age distribution💬
186	Rothmund-Thomson syndrome [Chr] 💬 "RAPADILINO syndrome", "Baller-Gerold syndrome"	-	-	-	3 patients Age distribution💬
187	Kabuki syndrome [Chr] 💬	4 trials    | 1 / 0 / 0 / 0 💬	9 drugs   [ 2 drugs ]	2 genes   11 pathways	19 patients Age distribution💬
192	Cockayne syndrome [Chr] 💬 "CS"	4 trials    | 1 / 3 / 0 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   51 pathways	6 patients Age distribution💬
194	Sotos syndrome [Chr] 💬	-	-	-	23 patients Age distribution💬
195	Noonan syndrome [Chr] 💬	25 trials    | 0 / 3 / 16 / 0 💬	23 drugs   [ 5 drugs ]	2 genes   9 pathways	46 patients Age distribution💬
196	Young-Simpson syndrome [Chr] 💬	-	-	-	-
197	1p36 deletion syndrome [Chr] 💬	-	-	-	8 patients Age distribution💬
198	4p deletion syndrome [Chr] 💬 "4p-syndrome"	-	-	-	8 patients Age distribution💬
199	5p deletion syndrome [Chr] 💬 "5p-syndrome"	-	-	-	7 patients Age distribution💬
200	Paternal uniparental disomy of chromosome 14 [Chr] 💬 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"	-	-	-	6 patients Age distribution💬
202	Smith-Magenis syndrome [Chr] 💬	9 trials    | 7 / 4 / 2 / 1 💬	10 drugs   [ 5 drugs ]	4 genes   7 pathways	4 patients Age distribution💬
204	Emanuel syndrome [Chr] 💬 "Derivative 22 syndrome", "Partial trisomy (11", "22)"	-	-	-	5 patients Age distribution💬
205	Fragile X syndrome related disease [Chr] 💬 "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome"	5 trials    | 0 / 2 / 1 / 0 💬	7 drugs   [ 5 drugs ]	22 genes   25 pathways	8 patients Age distribution💬
206	Fragile X syndrome [Chr] 💬	108 trials    | 35 / 49 / 16 / 8 💬	91 drugs   [ 36 drugs ]	52 genes   77 pathways	1 patient Age distribution💬
227	Osler disease [Chr] 💬 "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"	56 trials    | 22 / 31 / 14 / 5 💬	72 drugs   [ 21 drugs ]	23 genes   136 pathways	895 patients Age distribution💬
287	Epstein syndrome [Chr] 💬	-	-	-	12 patients Age distribution💬
310	Congenital anomalies syndrome [Chr] 💬 "Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"	11 trials    | 2 / 7 / 0 / 0 💬	20 drugs   [ 10 drugs ]	3 genes   7 pathways	32 patients Age distribution💬
333	Hutchinson-Gilford syndrome [Chr] 💬 "Hutchinson-Gilford progeria syndrome", "HGPS"	8 trials    | 2 / 5 / 0 / 0 💬	8 drugs   [ 3 drugs ]	4 genes   6 pathways	-