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 (FY2023)
102	Rubinstein-Taybi syndrome [Chr] 💬 "RSTS", "Histone acetylation disorder" 102. Rubinstein-Taybi syndrome × [Chr] Chromosomal and gene abnormalities	4 trials    | 0 / 2 / 0 / 0 💬 102. Rubinstein-Taybi syndrome × Some trials have no Phase data.	8 drugs   [ - ]	-	11 patients Age distribution💬 102. Rubinstein-Taybi syndrome × Age Num 0-9 - 10-19 1 20-29 7 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
103	Cardio-facio-cutaneous syndrome [Chr] 💬 "CFC syndrome" 103. Cardio-facio-cutaneous syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	11 patients Age distribution💬 103. Cardio-facio-cutaneous syndrome × Age Num 0-9 - 10-19 2 20-29 6 30-39 2 40-49 - 50-59 1 60-69 - 70-74 - 75- -
104	Costello syndrome [Chr] 💬 104. Costello syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	11 patients Age distribution💬 104. Costello syndrome × Age Num 0-9 - 10-19 - 20-29 10 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
105	CHARGE syndrome [Chr] 💬 105. CHARGE syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	39 patients Age distribution💬 105. CHARGE syndrome × Age Num 0-9 3 10-19 3 20-29 30 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
165	Pachydermoperiostosis [Chr] 💬 "PDP" 165. Pachydermoperiostosis × [Chr] Chromosomal and gene abnormalities	-	-	-	24 patients Age distribution💬 165. Pachydermoperiostosis × Age Num 0-9 - 10-19 1 20-29 4 30-39 10 40-49 3 50-59 4 60-69 2 70-74 - 75- -
168	Ehlers-Danlos syndrome [Chr] 💬 "EDS", "Classic EDS", "Classical EDS", "cEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Cardiac-valvular Ehlers-Danlos syndrome", "cvEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Brittle cornea syndrome", "BCS", "Spondylodysplastic Ehlers-Danlos Syndrome", "spEDS", "Musculocontractural Ehlers-Danlos Syndrome", "mEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS", "Myopathic Ehlers-Danlos Syndrome", "mEDS", "Periodontal Ehlers-Danlos Syndrome", "pEDS" 168. Ehlers-Danlos syndrome × [Chr] Chromosomal and gene abnormalities	16 trials    | 1 / 2 / 7 / 3 💬 168. Ehlers-Danlos syndrome × Some trials have no Phase data.	22 drugs   [ 10 drugs ]	11 genes   103 pathways	249 patients Age distribution💬 168. Ehlers-Danlos syndrome × Age Num 0-9 - 10-19 4 20-29 54 30-39 52 40-49 64 50-59 50 60-69 18 70-74 5 75- 2
170	Occipital horn syndrome [Chr] 💬 170. Occipital horn syndrome × [Chr] Chromosomal and gene abnormalities	2 trials    | 0 / 0 / 0 / 0 💬 170. Occipital horn syndrome × Some trials have no Phase data.	2 drugs   [ 3 drugs ]	9 genes   16 pathways	2 patients Age distribution💬 170. Occipital horn syndrome × Age Num 0-9 - 10-19 - 20-29 - 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
173	VATER syndrome [Chr] 💬 "VATER association", "VACTERL association" 173. VATER syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	17 patients Age distribution💬 173. VATER syndrome × Age Num 0-9 1 10-19 4 20-29 9 30-39 2 40-49 1 50-59 - 60-69 - 70-74 - 75- -
174	Nasu-Hakola disease [Chr] 💬 "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" 174. Nasu-Hakola disease × [Chr] Chromosomal and gene abnormalities	-	-	-	5 patients Age distribution💬 174. Nasu-Hakola disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 3 50-59 2 60-69 - 70-74 - 75- -
175	Weaver syndrome [Chr] 💬 175. Weaver syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	-
176	Coffin-Lowry syndrome [Chr] 💬 176. Coffin-Lowry syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	6 patients Age distribution💬 176. Coffin-Lowry syndrome × Age Num 0-9 - 10-19 1 20-29 3 30-39 1 40-49 1 50-59 - 60-69 - 70-74 - 75- -
178	Mowat-Wilson syndrome [Chr] 💬 178. Mowat-Wilson syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	18 patients Age distribution💬 178. Mowat-Wilson syndrome × Age Num 0-9 2 10-19 7 20-29 8 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
180	ATR-X syndrome [Chr] 💬 "Alpha-thalassemia mental retardation syndrome", "X-linked α-thalassemia/intellectual disability syndrome" 180. ATR-X syndrome × [Chr] Chromosomal and gene abnormalities	1 trial    | 0 / 1 / 0 / 0 💬 180. ATR-X syndrome × Some trials have no Phase data.	2 drugs   [ 1 drug ]	-	7 patients Age distribution💬 180. ATR-X syndrome × Age Num 0-9 - 10-19 - 20-29 6 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
185	Coffin-Siris syndrome [Chr] 💬 185. Coffin-Siris syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	5 patients Age distribution💬 185. Coffin-Siris syndrome × Age Num 0-9 1 10-19 3 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
186	Rothmund-Thomson syndrome [Chr] 💬 "RAPADILINO syndrome", "Baller-Gerold syndrome" 186. Rothmund-Thomson syndrome × [Chr] Chromosomal and gene abnormalities	1 trial    | 0 / 0 / 0 / 0 💬 186. Rothmund-Thomson syndrome × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	4 patients Age distribution💬 186. Rothmund-Thomson syndrome × Age Num 0-9 1 10-19 2 20-29 - 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
187	Kabuki syndrome [Chr] 💬 187. Kabuki syndrome × [Chr] Chromosomal and gene abnormalities	4 trials    | 0 / 0 / 0 / 0 💬 187. Kabuki syndrome × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	3 genes   17 pathways	22 patients Age distribution💬 187. Kabuki syndrome × Age Num 0-9 1 10-19 1 20-29 12 30-39 3 40-49 2 50-59 2 60-69 1 70-74 - 75- -
192	Cockayne syndrome [Chr] 💬 "CS" 192. Cockayne syndrome × [Chr] Chromosomal and gene abnormalities	4 trials    | 1 / 1 / 0 / 0 💬 192. Cockayne syndrome × Some trials have no Phase data.	5 drugs   [ 3 drugs ]	1 gene   49 pathways	7 patients Age distribution💬 192. Cockayne syndrome × Age Num 0-9 - 10-19 1 20-29 - 30-39 4 40-49 - 50-59 2 60-69 - 70-74 - 75- -
194	Sotos syndrome [Chr] 💬 194. Sotos syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	22 patients Age distribution💬 194. Sotos syndrome × Age Num 0-9 1 10-19 3 20-29 11 30-39 3 40-49 3 50-59 1 60-69 - 70-74 - 75- -
195	Noonan syndrome [Chr] 💬 195. Noonan syndrome × [Chr] Chromosomal and gene abnormalities	38 trials    | 0 / 2 / 24 / 1 💬 195. Noonan syndrome × Some trials have no Phase data.	27 drugs   [ 7 drugs ]	5 genes   96 pathways	48 patients Age distribution💬 195. Noonan syndrome × Age Num 0-9 2 10-19 2 20-29 20 30-39 8 40-49 9 50-59 5 60-69 1 70-74 - 75- 1
196	Young-Simpson syndrome [Chr] 💬 196. Young-Simpson syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	-
197	1p36 deletion syndrome [Chr] 💬 197. 1p36 deletion syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	10 patients Age distribution💬 197. 1p36 deletion syndrome × Age Num 0-9 3 10-19 4 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
198	4p deletion syndrome [Chr] 💬 "4p-syndrome" 198. 4p deletion syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	11 patients Age distribution💬 198. 4p deletion syndrome × Age Num 0-9 1 10-19 - 20-29 10 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
199	5p deletion syndrome [Chr] 💬 "5p-syndrome" 199. 5p deletion syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	8 patients Age distribution💬 199. 5p deletion syndrome × Age Num 0-9 1 10-19 - 20-29 7 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
200	Paternal uniparental disomy of chromosome 14 [Chr] 💬 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" 200. Paternal uniparental disomy of chromosome 14 × [Chr] Chromosomal and gene abnormalities	-	-	-	6 patients Age distribution💬 200. Paternal uniparental disomy of chromosome 14 × Age Num 0-9 5 10-19 1 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
202	Smith-Magenis syndrome [Chr] 💬 202. Smith-Magenis syndrome × [Chr] Chromosomal and gene abnormalities	9 trials    | 2 / 4 / 1 / 0 💬 202. Smith-Magenis syndrome × Some trials have no Phase data.	8 drugs   [ 3 drugs ]	3 genes   4 pathways	4 patients Age distribution💬 202. Smith-Magenis syndrome × Age Num 0-9 - 10-19 1 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
204	Emanuel syndrome [Chr] 💬 "Derivative 22 syndrome", "Partial trisomy (11:22)" 204. Emanuel syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	6 patients Age distribution💬 204. Emanuel syndrome × Age Num 0-9 3 10-19 - 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
205	Fragile X syndrome related disease [Chr] 💬 "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome" 205. Fragile X syndrome related disease × [Chr] Chromosomal and gene abnormalities	5 trials    | 0 / 2 / 1 / 0 💬 205. Fragile X syndrome related disease × Some trials have no Phase data.	11 drugs   [ 7 drugs ]	25 genes   31 pathways	12 patients Age distribution💬 205. Fragile X syndrome related disease × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 - 50-59 - 60-69 2 70-74 5 75- 3
206	Fragile X syndrome [Chr] 💬 206. Fragile X syndrome × [Chr] Chromosomal and gene abnormalities	118 trials    | 13 / 55 / 13 / 3 💬 206. Fragile X syndrome × Some trials have no Phase data.	75 drugs   [ 30 drugs ]	58 genes   83 pathways	1 patient Age distribution💬 206. Fragile X syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
227	Osler disease [Chr] 💬 "Hereditary hemorrhagic telangiectasia", "HHT", "Osler-Weber-Rendu disease" 227. Osler disease × [Chr] Chromosomal and gene abnormalities	57 trials    | 7 / 33 / 12 / 3 💬 227. Osler disease × Some trials have no Phase data.	60 drugs   [ 20 drugs ]	25 genes   151 pathways	991 patients Age distribution💬 227. Osler disease × Age Num 0-9 1 10-19 10 20-29 63 30-39 90 40-49 143 50-59 234 60-69 212 70-74 85 75- 153
287	Epstein syndrome [Chr] 💬 287. Epstein syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	15 patients Age distribution💬 287. Epstein syndrome × Age Num 0-9 - 10-19 - 20-29 7 30-39 1 40-49 2 50-59 4 60-69 - 70-74 1 75- -
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" 310. Congenital anomalies syndrome × [Chr] Chromosomal and gene abnormalities	12 trials    | 2 / 6 / 1 / 0 💬 310. Congenital anomalies syndrome × Some trials have no Phase data.	16 drugs   [ 9 drugs ]	3 genes   8 pathways	37 patients Age distribution💬 310. Congenital anomalies syndrome × Age Num 0-9 3 10-19 6 20-29 23 30-39 2 40-49 1 50-59 2 60-69 - 70-74 - 75- -
333	Hutchinson-Gilford syndrome [Chr] 💬 "Hutchinson-Gilford progeria syndrome", "HGPS" 333. Hutchinson-Gilford syndrome × [Chr] Chromosomal and gene abnormalities	9 trials    | 1 / 6 / 0 / 0 💬 333. Hutchinson-Gilford syndrome × Some trials have no Phase data.	7 drugs   [ 4 drugs ]	4 genes   5 pathways	-
339	MECP2 duplication syndrome [Chr] 💬 339. MECP2 duplication syndrome × [Chr] Chromosomal and gene abnormalities	2 trials    | 1 / 1 / 0 / 0 💬 339. MECP2 duplication syndrome × Some trials have no Phase data.	3 drugs   [ - ]	-	-
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy [Imm] 💬 [Chr] 💬 "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "STING-associated vasculopathy with onset in infancy", "SAVI" 345. Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy × [Imm] Immune diseases [Chr] Chromosomal and gene abnormalities	5 trials    | 0 / 1 / 1 / 0 💬 345. Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy × Some trials have no Phase data.	3 drugs   [ 1 drug ]	2 genes   37 pathways	-