Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 33,695 / Drugs : 21,110 - ( DrugBank : 2,155 ) / Drug target genes : 623 - Drug target pathways : 291
Disease group: Chromosomal and gene abnormalities| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 102 | Rubinstein-Taybi syndrome [Chr] 💬 "RSTS", "Histone acetylation disorder" | 3 3 trials 0 / 2 / 0 / 0 💬 | 8 8 drugs [ 1 1 drug ] | 7 7 genes 17 pathways | 7 (1) About 200 patients (By the research group) (2) 7 patients Age distribution  💬 |
| 103 | Cardio-facio-cutaneous syndrome [Chr] 💬 "CFC syndrome" | 0 - | 0 - | 0 - | 7 (1) About 200 patients (By the research group) (2) 7 patients Age distribution  💬 |
| 104 | Costello syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 10 (1) About 100 patients (By the research group) (2) 10 patients Age distribution  💬 |
| 105 | CHARGE syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 25 (1) About 5,000 patients (By the research group) (2) 25 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" | 0 - | 0 - | 0 - | 19 (1) Less than 100 patients (2) 19 patients Age distribution  💬 |
| 173 | VATER syndrome [Chr] 💬 "VATER association", "VACTERL association" | 0 - | 0 - | 0 - | 15 (1) About 500 patients (2) 15 patients Age distribution  💬 |
| 174 | Nasu-Hakola disease [Chr] 💬 "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | 0 - | 0 - | 0 - | 4 (1) About 200 patients (2) 4 patients Age distribution  💬 |
| 175 | Weaver syndrome [Chr] 💬 | 0 - | 0 - | 0 - | (1) Less than 100 patients (2) - |
| 176 | Coffin-Lowry syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 5 (1) One patient per tens of thousand population (2) 5 patients Age distribution  💬 |
| 178 | Mowat-Wilson syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 13 (1) About 1,000 patients (2) 13 patients Age distribution  💬 |
| 179 | Williams syndrome [Chr] 💬 | 5 5 trials 0 / 0 / 0 / 2 💬 | 14 14 drugs [ 8 8 drugs ] | 9 9 genes 33 pathways | 49 (1) Occurrence: One patient per twenty thousand population (2) 49 patients Age distribution  💬 |
| 180 | ATR-X syndrome [Chr] 💬 "Alpha-thalassemia mental retardation syndrome" | 0 - | 0 - | 0 - | 7 (1) Less than 100 patients (2) 7 patients Age distribution  💬 |
| 181 | Crouzon syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 19 (1) [Disease ID 181-184 total] About 900 patients (2) 19 patients Age distribution  💬 |
| 182 | Apert syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 6 (1) [Disease ID 181-184 total] About 900 patients (2) 6 patients Age distribution  💬 |
| 183 | Pfeiffer syndrome [Chr] 💬 "Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3" | 0 - | 0 - | 0 - | 6 (1) [Disease ID 181-184 total] About 900 patients (2) 6 patients Age distribution  💬 |
| 184 | Antley-Bixler syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 3 (1) [Disease ID 181-184 total] About 900 patients (2) 3 patients Age distribution  💬 |
| 185 | Coffin-Siris syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 4 (1) Less than 100 patients (2) 4 patients Age distribution  💬 |
| 186 | Rothmund-Thomson syndrome [Chr] 💬 "RAPADILINO syndrome", "Baller-Gerold syndrome" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 3 (1) Less than 100 patients (2) 3 patients Age distribution  💬 |
| 187 | Kabuki syndrome [Chr] 💬 | 3 3 trials 1 / 0 / 0 / 0 💬 | 8 8 drugs [ 2 2 drugs ] | 3 3 genes 15 pathways | 14 (1) About 3,000~4,000 patients (2) 14 patients Age distribution  💬 |
| 188 | Polysplenia syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 54 (1) [Disease ID 188-189 total] About 2,000 patients (2) 54 patients Age distribution  💬 |
| 189 | Asplenia syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 84 (1) [Disease ID 188-189 total] About 2,000 patients (2) 84 patients Age distribution  💬 |
| 191 | Werner syndrome [Chr] 💬 | 3 3 trials 2 / 1 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 1 1 gene 5 pathways | 102 (1) About 2,000 patients (2) 102 patients Age distribution  💬 |
| 192 | Cockayne syndrome [Chr] 💬 "CS" | 4 4 trials 1 / 3 / 0 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene 51 pathways | 5 (1) Less than 100 patients (2) 5 patients Age distribution  💬 |
| 193 | Prader-Willi syndrome [Chr] 💬 | 111 111 trials 32 / 42 / 48 / 13 💬 | 120 120 drugs [ 30 30 drugs ] | 51 51 genes 103 pathways | 172 (1) About 1,000 patients (2) 172 patients Age distribution  💬 |
| 194 | Sotos syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 17 (1) About 2,500 patients (2) 17 patients Age distribution  💬 |
| 195 | Noonan syndrome [Chr] 💬 | 14 14 trials 0 / 3 / 6 / 0 💬 | 15 15 drugs [ 5 5 drugs ] | 2 2 genes 9 pathways | 45 (1) About 600 patients (2) 45 patients Age distribution  💬 |
| 196 | Young-Simpson syndrome [Chr] 💬 | 0 - | 0 - | 0 - | (1) About 100 patients (2) - |
| 197 | 1p36 deletion syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 8 (1) About 100 patients (2) 8 patients Age distribution  💬 |
| 198 | 4p deletion syndrome [Chr] 💬 "4p-syndrome" | 0 - | 0 - | 0 - | 7 (1) Less than about 1,000 patients (2) 7 patients Age distribution  💬 |
| 199 | 5p deletion syndrome [Chr] 💬 "5p-syndrome" | 0 - | 0 - | 0 - | 6 (1) Less than about 1,000 patients (One per fifty thousand born, probably less than 1,000 patients estimated) (2) 6 patients Age distribution  💬 |
| 200 | Paternal uniparental disomy of chromosome 14 [Chr] 💬 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" | 0 - | 0 - | 0 - | 6 (1) Less than 100 patients (2) 6 patients Age distribution  💬 |
| 202 | Smith-Magenis syndrome [Chr] 💬 | 10 10 trials 7 / 5 / 3 / 1 💬 | 12 12 drugs [ 5 5 drugs ] | 4 4 genes 7 pathways | 1 (1) Less than 100 patients (2) 1 patient Age distribution  💬 |
| 203 | 22q11.2 deletion syndrome [Chr] 💬 | 5 5 trials 2 / 1 / 1 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 14 14 genes 23 pathways | 69 (1) About 4,500 patients (2) 69 patients Age distribution  💬 |
| 204 | Emanuel syndrome [Chr] 💬 "Derivative 22 syndrome", "Partial trisomy (11", "22)" | 0 - | 0 - | 0 - | 5 (1) Less than 100 patients (2) 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 5 trials 0 / 2 / 1 / 0 💬 | 13 13 drugs [ 7 7 drugs ] | 25 25 genes 29 pathways | 6 (1) [Disease ID 205-206 total] Less than 100 patients (2) 6 patients Age distribution  💬 |
| 206 | Fragile X syndrome [Chr] 💬 | 104 104 trials 33 / 49 / 16 / 8 💬 | 87 87 drugs [ 32 32 drugs ] | 54 54 genes 79 pathways | 2 (1) [Disease ID 205-206 total] Less than 100 patients (2) 2 patients Age distribution  💬 |
| 227 | Osler disease [Chr] 💬 "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" | 54 54 trials 21 / 31 / 14 / 5 💬 | 73 73 drugs [ 21 21 drugs ] | 23 23 genes 136 pathways | 837 (1) About 10,000 patients (2) 837 patients Age distribution  💬 |
| 232 | Carney complex [Chr] 💬 | 1 1 trial 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 1 1 gene 29 pathways | 23 (1) Less than 100 patients (2) 23 patients Age distribution  💬 |
| 287 | Epstein syndrome [Chr] 💬 | 0 - | 0 - | 0 - | 12 (1) About 200 patients (2) 12 patients Age distribution  💬 |
| 297 | Alagille syndrome [Chr] 💬 | 43 43 trials 12 / 21 / 16 / 2 💬 | 19 19 drugs [ 9 9 drugs ] | 2 2 genes 2 pathways | 41 (1) About 200~300 patients (2) 41 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" | 10 10 trials 2 / 7 / 0 / 0 💬 | 18 18 drugs [ 10 10 drugs ] | 3 3 genes 7 pathways | 30 (1) About 4,000 patients (2) 30 patients Age distribution  💬 |
| 333 | Hutchinson-Gilford syndrome [Chr] 💬 "Hutchinson-Gilford progeria syndrome", "HGPS" | 7 7 trials 2 / 5 / 0 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 4 4 genes 6 pathways | (1) Less than 100 patients (2) - |