Disease 指定難病
疾患数 : 338 - 臨床試験総数 : 34,520 / 薬物総数 : 19,957 - ( DrugBank : 2,195 ) / 標的遺伝子総数 : 613 - 標的パスウェイ総数 : 297
| 告示 番号 | 疾患名 ［疾患群］ | 臨床試験数 | Phase 1 / 2 / 3 / 4 | 薬物数 [ DrugBank ] | 標的遺伝子数 | パスウェイ数 | 国内患者数 医療費受給者証所持者数 (R4年度) |
|---|---|---|---|---|---|
| 90 | 網膜色素変性症 [視] 💬 "Retinitis pigmentosa", "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" | 147 147 trials | 99 / 76 / 50 / 9 💬 | 176 176 drugs [ 43 43 drugs ] | 49 49 genes | 110 pathways | 21263 21,263人年齢分布  💬 |
| 134 | 中隔視神経形成異常症／ドモルシア症候群 [視] 💬 "Septo-optic dysplasia", "De Morsier syndrome" | 1 1 trial | 0 / 0 / 0 / 1 💬 | 1 1 drug [ 0 - ] | 0 - | 14 14人年齢分布  💬 |
| 164 | 眼皮膚白皮症 [視] 💬 "Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism" | 15 15 trials | 3 / 9 / 1 / 0 💬 | 54 54 drugs [ 34 34 drugs ] | 35 35 genes | 141 pathways | 28 28人年齢分布  💬 |
| 301 | 黄斑ジストロフィー [視] 💬 "Macular dystrophy", "Vitelliform macular dystrophy", "Best vitelliform macular dystrophy", "Best disease", "Stargardt disease", "Occult macular dystrophy", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy" | 46 46 trials | 21 / 28 / 8 / 1 💬 | 42 42 drugs [ 11 11 drugs ] | 9 9 genes | 67 pathways | 217 217人年齢分布  💬 |
| 302 | レーベル遺伝性視神経症 [視] 💬 "Leber hereditary optic neuropathy" | 23 23 trials | 29 / 12 / 15 / 6 💬 | 15 15 drugs [ 5 5 drugs ] | 5 5 genes | 33 pathways | 134 134人年齢分布  💬 |
| 303 | アッシャー症候群 [聴] 💬 [視] 💬 "Usher syndrome" | 10 10 trials | 6 / 10 / 2 / 0 💬 | 11 11 drugs [ 0 - ] | 0 - | 26 26人年齢分布  💬 |
| 328 | 前眼部形成異常 [視] 💬 "Anterior segment dysgenesis", "ASD" | 0 - | 0 - | 0 - | 17 17人年齢分布  💬 |
| 329 | 無虹彩症 [視] 💬 "Aniridia" | 3 3 trials | 0 / 2 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 138 138人年齢分布  💬 |
| 332 | 膠様滴状角膜ジストロフィー [視] 💬 "Gelatinous drop-like corneal dystrophy" | 0 - | 0 - | 0 - | 3 3人年齢分布  💬 |