Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 43,690 / 薬物総数 : 27,527 - ( DrugBank : 2,441 ) / 標的遺伝子総数 : 714 - 標的パスウェイ総数 : 315
| 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 R6年度医療費受給者証所持者数（修正版） |
|---|---|---|---|---|---|
| 102 | ルビンシュタイン・テイビ症候群 [染] 💬 "Rubinstein-Taybi syndrome", "RSTS", "Histone acetylation disorder" | 4 4 trials | 0 / 2 / 0 / 0 💬 | 9 9 drugs [ 0 - ] | 0 - | 13 13人年齢分布
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| 103 | CFC症候群 [染] 💬 "Cardio-facio-cutaneous syndrome", "Cardiofaciocutaneous syndrome", "CFC syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 104 | コステロ症候群 [染] 💬 "Costello syndrome" | 0 - | 0 - | 0 - | 13 13人年齢分布
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| 105 | チャージ症候群 [染] 💬 "CHARGE syndrome" | 0 - | 0 - | 0 - | 43 43人年齢分布
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| 165 | 肥厚性皮膚骨膜症 [染] 💬 "Pachydermoperiostosis", "PDP", "Primary hypertrophic osteoarthropathy", "PHO" | 3 3 trials | 0 / 0 / 1 / 1 💬 | 2 2 drugs [ 1 1 drug ] | 1 1 gene | 22 pathways | 24 24人年齢分布
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| 168 | エーラス・ダンロス症候群 [染] 💬 "Ehlers-Danlos syndrome", "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" | 17 17 trials | 1 / 2 / 7 / 3 💬 | 28 28 drugs [ 10 10 drugs ] | 12 12 genes | 106 pathways | 351 351人年齢分布
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| 170 | オクシピタル・ホーン症候群 [染] 💬 "Occipital horn syndrome" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 9 9 genes | 16 pathways | 2 2人年齢分布
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| 173 | ＶＡＴＥＲ症候群 [染] 💬 "VATER syndrome", "VATER association", "VACTERL association" | 0 - | 0 - | 0 - | 17 17人年齢分布
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| 174 | 那須・ハコラ病 [染] 💬 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | 0 - | 0 - | 0 - | 4 4人年齢分布
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| 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 - | 6 6人年齢分布
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| 178 | モワット・ウィルソン症候群 [染] 💬 "Mowat-Wilson syndrome" | 0 - | 0 - | 0 - | 18 18人年齢分布
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| 180 | ＡＴＲ－Ｘ症候群 [染] 💬 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome", "X-linked α-thalassemia/intellectual disability syndrome" | 1 1 trial | 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 7 7人年齢分布
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| 185 | コフィン・シリス症候群 [染] 💬 "Coffin-Siris syndrome" | 0 - | 0 - | 0 - | 5 5人年齢分布
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| 186 | ロスムンド・トムソン症候群 [染] 💬 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 4 4人年齢分布
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| 187 | 歌舞伎症候群 [染] 💬 "Kabuki syndrome" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 1 1 drug ] | 2 2 genes | 13 pathways | 23 23人年齢分布
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| 192 | コケイン症候群 [染] 💬 "Cockayne syndrome", "CS" | 4 4 trials | 1 / 1 / 0 / 0 💬 | 6 6 drugs [ 2 2 drugs ] | 1 1 gene | 52 pathways | 6 6人年齢分布
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| 194 | ソトス症候群 [染] 💬 "Sotos syndrome" | 0 - | 0 - | 0 - | 20 20人年齢分布
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| 195 | ヌーナン症候群 [染] 💬 "Noonan syndrome" | 38 38 trials | 0 / 2 / 24 / 1 💬 | 34 34 drugs [ 7 7 drugs ] | 5 5 genes | 98 pathways | 56 56人年齢分布
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| 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 - | 11 11人年齢分布
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| 198 | ４ｐ欠失症候群 [染] 💬 "4p deletion syndrome", "4p-syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 199 | ５ｐ欠失症候群 [染] 💬 "5p deletion syndrome", "5p-syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 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 - | 5 5人年齢分布
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| 202 | スミス・マギニス症候群 [染] 💬 "Smith-Magenis syndrome" | 9 9 trials | 2 / 4 / 1 / 0 💬 | 10 10 drugs [ 3 3 drugs ] | 3 3 genes | 4 pathways | 4 4人年齢分布
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| 204 | エマヌエル症候群 [染] 💬 "Emanuel syndrome", "Derivative 22 syndrome", "Partial trisomy (11:22)" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 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 💬 | 12 12 drugs [ 5 5 drugs ] | 7 7 genes | 25 pathways | 14 14人年齢分布
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| 206 | 脆弱Ｘ症候群 [染] 💬 "Fragile X syndrome" | 124 124 trials | 13 / 59 / 14 / 3 💬 | 103 103 drugs [ 35 35 drugs ] | 58 58 genes | 84 pathways | 1 1人年齢分布
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| 227 | オスラー病 [染] 💬 "Osler disease", "Hereditary hemorrhagic telangiectasia", "HHT", "Osler-Weber-Rendu disease" | 68 68 trials | 10 / 35 / 12 / 3 💬 | 93 93 drugs [ 22 22 drugs ] | 25 25 genes | 156 pathways | 1048 1,048人年齢分布
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| 287 | エプスタイン症候群 [染] 💬 "Epstein syndrome" | 0 - | 0 - | 0 - | 18 18人年齢分布
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| 310 | 先天異常症候群 [染] 💬 "Congenital anomalies syndrome", "Partial trisomy 1q syndrome", "Chromosome 1q21.1 duplication syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Chromosome 9q34.3 deletion syndrome", "Chromosome 9q deletion syndrome", "9q subtelomeric deletion syndrome", "9q- syndrome", "9q34.3 deletion/microdeletion syndrome", "Kleefstra syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" | 12 12 trials | 2 / 6 / 1 / 0 💬 | 21 21 drugs [ 10 10 drugs ] | 2 2 genes | 3 pathways | 41 41人年齢分布
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| 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", "Progeria syndrome" | 9 9 trials | 1 / 6 / 0 / 0 💬 | 8 8 drugs [ 4 4 drugs ] | 4 4 genes | 5 pathways | - |
| 339 | MECP2重複症候群 [染] 💬 "MECP2 duplication syndrome" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 3 3 drugs [ 0 - ] | 0 - | 8 8人年齢分布
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| 345 | 乳児発症STING関連血管炎 [免] 💬 [染] 💬 "Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy", "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "STING-associated vasculopathy with onset in infancy", "SAVI" | 5 5 trials | 0 / 1 / 1 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 2 2 genes | 37 pathways | - |