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) |
|---|---|---|---|---|---|
| 102 | ルビンシュタイン・テイビ症候群 [染] 💬 "Rubinstein-Taybi syndrome", "RSTS", "Histone acetylation disorder" | 3 3 trials | 0 / 2 / 0 / 0 💬 | 5 5 drugs [ 1 1 drug ] | 7 7 genes | 17 pathways | 7 7人年齢分布  💬 |
| 103 | CFC症候群 [染] 💬 "Cardio-facio-cutaneous syndrome", "CFC syndrome" | 0 - | 0 - | 0 - | 8 8人年齢分布  💬 |
| 104 | コステロ症候群 [染] 💬 "Costello syndrome" | 0 - | 0 - | 0 - | 9 9人年齢分布  💬 |
| 105 | チャージ症候群 [染] 💬 "CHARGE syndrome" | 0 - | 0 - | 0 - | 34 34人年齢分布  💬 |
| 165 | 肥厚性皮膚骨膜症 [染] 💬 "Pachydermoperiostosis", "PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP" | 0 - | 0 - | 0 - | 19 19人年齢分布  💬 |
| 168 | エーラス・ダンロス症候群 [染] 💬 "Ehlers-Danlos syndrome", "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 13 trials | 1 / 2 / 5 / 3 💬 | 21 21 drugs [ 11 11 drugs ] | 11 11 genes | 103 pathways | 217 217人年齢分布  💬 |
| 170 | オクシピタル・ホーン症候群 [染] 💬 "Occipital horn syndrome" | 2 2 trials | 1 / 1 / 1 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 9 9 genes | 14 pathways | 2 2人年齢分布  💬 |
| 173 | ＶＡＴＥＲ症候群 [染] 💬 "VATER syndrome", "VATER association", "VACTERL association" | 0 - | 0 - | 0 - | 14 14人年齢分布  💬 |
| 174 | 那須・ハコラ病 [染] 💬 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | 0 - | 0 - | 0 - | 6 6人年齢分布  💬 |
| 175 | ウィーバー症候群 [染] 💬 "Weaver syndrome" | 0 - | 0 - | 0 - | - |
| 176 | コフィン・ローリー症候群 [染] 💬 "Coffin-Lowry syndrome" | 0 - | 0 - | 0 - | 5 5人年齢分布  💬 |
| 178 | モワット・ウィルソン症候群 [染] 💬 "Mowat-Wilson syndrome" | 0 - | 0 - | 0 - | 14 14人年齢分布  💬 |
| 180 | ＡＴＲ−Ｘ症候群 [染] 💬 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome" | 1 1 trial | 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 6 6人年齢分布  💬 |
| 185 | コフィン・シリス症候群 [染] 💬 "Coffin-Siris syndrome" | 0 - | 0 - | 0 - | 4 4人年齢分布  💬 |
| 186 | ロスムンド・トムソン症候群 [染] 💬 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" | 0 - | 0 - | 0 - | 3 3人年齢分布  💬 |
| 187 | 歌舞伎症候群 [染] 💬 "Kabuki syndrome" | 4 4 trials | 1 / 0 / 0 / 0 💬 | 9 9 drugs [ 2 2 drugs ] | 2 2 genes | 11 pathways | 19 19人年齢分布  💬 |
| 192 | コケイン症候群 [染] 💬 "Cockayne syndrome", "CS" | 4 4 trials | 1 / 3 / 0 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene | 51 pathways | 6 6人年齢分布  💬 |
| 194 | ソトス症候群 [染] 💬 "Sotos syndrome" | 0 - | 0 - | 0 - | 23 23人年齢分布  💬 |
| 195 | ヌーナン症候群 [染] 💬 "Noonan syndrome" | 25 25 trials | 0 / 3 / 16 / 0 💬 | 23 23 drugs [ 5 5 drugs ] | 2 2 genes | 9 pathways | 46 46人年齢分布  💬 |
| 196 | ヤング・シンプソン症候群 [染] 💬 "Young-Simpson syndrome" | 0 - | 0 - | 0 - | - |
| 197 | １ｐ36欠失症候群 [染] 💬 "1p36 deletion syndrome" | 0 - | 0 - | 0 - | 8 8人年齢分布  💬 |
| 198 | ４ｐ欠失症候群 [染] 💬 "4p deletion syndrome", "4p-syndrome" | 0 - | 0 - | 0 - | 8 8人年齢分布  💬 |
| 199 | ５ｐ欠失症候群 [染] 💬 "5p deletion syndrome", "5p-syndrome" | 0 - | 0 - | 0 - | 7 7人年齢分布  💬 |
| 200 | 第14番染色体父親性ダイソミー症候群 [染] 💬 "Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" | 0 - | 0 - | 0 - | 6 6人年齢分布  💬 |
| 202 | スミス・マギニス症候群 [染] 💬 "Smith-Magenis syndrome" | 9 9 trials | 7 / 4 / 2 / 1 💬 | 10 10 drugs [ 5 5 drugs ] | 4 4 genes | 7 pathways | 4 4人年齢分布  💬 |
| 204 | エマヌエル症候群 [染] 💬 "Emanuel syndrome", "Derivative 22 syndrome", "Partial trisomy (11", "22)" | 0 - | 0 - | 0 - | 5 5人年齢分布  💬 |
| 205 | 脆弱Ｘ症候群関連疾患 [染] 💬 "Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome" | 5 5 trials | 0 / 2 / 1 / 0 💬 | 7 7 drugs [ 5 5 drugs ] | 22 22 genes | 25 pathways | 8 8人年齢分布  💬 |
| 206 | 脆弱Ｘ症候群 [染] 💬 "Fragile X syndrome" | 108 108 trials | 35 / 49 / 16 / 8 💬 | 91 91 drugs [ 36 36 drugs ] | 52 52 genes | 77 pathways | 1 1人年齢分布  💬 |
| 227 | オスラー病 [染] 💬 "Osler disease", "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" | 56 56 trials | 22 / 31 / 14 / 5 💬 | 72 72 drugs [ 21 21 drugs ] | 23 23 genes | 136 pathways | 895 895人年齢分布  💬 |
| 287 | エプスタイン症候群 [染] 💬 "Epstein syndrome" | 0 - | 0 - | 0 - | 12 12人年齢分布  💬 |
| 310 | 先天異常症候群 [染] 💬 "Congenital anomalies syndrome", "Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" | 11 11 trials | 2 / 7 / 0 / 0 💬 | 20 20 drugs [ 10 10 drugs ] | 3 3 genes | 7 pathways | 32 32人年齢分布  💬 |
| 333 | ハッチンソン・ギルフォード症候群 [染] 💬 "Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS" | 8 8 trials | 2 / 5 / 0 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 4 4 genes | 6 pathways | - |