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) |
|---|---|---|---|---|---|
| 40 | 高安動脈炎 [免] 💬 "Takayasu arteritis", "Aortitis syndrome", "Pulseless disease" | 24 24 trials | 0 / 5 / 8 / 3 💬 | 40 40 drugs [ 18 18 drugs ] | 23 23 genes | 110 pathways | 4642 4,642人年齢分布  💬 |
| 41 | 巨細胞性動脈炎 [免] 💬 "Giant cell arteritis", "Temporal arteritis" | 131 131 trials | 60 / 42 / 79 / 15 💬 | 139 139 drugs [ 36 36 drugs ] | 33 33 genes | 125 pathways | 2453 2,453人年齢分布  💬 |
| 42 | 結節性多発動脈炎 [免] 💬 "Polyarteritis nodosa", "PAN" | 15 15 trials | 0 / 6 / 6 / 2 💬 | 26 26 drugs [ 16 16 drugs ] | 26 26 genes | 105 pathways | 2143 2,143人年齢分布  💬 |
| 43 | 顕微鏡的多発血管炎 [免] 💬 "Microscopic polyangiitis", "MPA" | 88 88 trials | 61 / 44 / 42 / 21 💬 | 81 81 drugs [ 21 21 drugs ] | 15 15 genes | 90 pathways | 11078 11,078人年齢分布  💬 |
| 44 | 多発血管炎性肉芽腫症 [免] 💬 "Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" | 98 98 trials | 67 / 40 / 54 / 21 💬 | 108 108 drugs [ 28 28 drugs ] | 22 22 genes | 81 pathways | 3437 3,437人年齢分布  💬 |
| 45 | 好酸球性多発血管炎性肉芽腫症 [免] 💬 "Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" | 31 31 trials | 8 / 7 / 16 / 5 💬 | 44 44 drugs [ 18 18 drugs ] | 18 18 genes | 101 pathways | 6723 6,723人年齢分布  💬 |
| 46 | 悪性関節リウマチ [免] 💬 "Malignant rheumatoid arthritis", "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis" | 4,356 4,356 trials | 1358 / 1018 / 1235 / 670 💬 | 2,567 2,567 drugs [ 415 415 drugs ] | 192 192 genes | 228 pathways | 4966 4,966人年齢分布  💬 |
| 48 | 原発性抗リン脂質抗体症候群 [免] 💬 "Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS" | 5 5 trials | 1 / 2 / 1 / 0 💬 | 6 6 drugs [ 4 4 drugs ] | 1 1 gene | 7 pathways | 1019 1,019人年齢分布  💬 |
| 49 | 全身性エリテマトーデス [免] 💬 "Systemic lupus erythematosus", "SLE" | 993 993 trials | 415 / 404 / 286 / 118 💬 | 702 702 drugs [ 184 184 drugs ] | 116 116 genes | 200 pathways | 65145 65,145人年齢分布  💬 |
| 50 | 皮膚筋炎／多発性筋炎 [免] 💬 "Dermatomyositis", "Polymyositis" | 194 194 trials | 54 / 83 / 61 / 17 💬 | 244 244 drugs [ 89 89 drugs ] | 50 50 genes | 151 pathways | 26046 26,046人年齢分布  💬 |
| 51 | 全身性強皮症 [免] 💬 "Scleroderma", "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" | 525 525 trials | 274 / 260 / 151 / 63 💬 | 565 565 drugs [ 148 148 drugs ] | 114 114 genes | 217 pathways | 27013 27,013人年齢分布  💬 |
| 52 | 混合性結合組織病 [免] 💬 "Mixed connective tissue disease" | 8 8 trials | 0 / 5 / 1 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene | 1 pathway | 10099 10,099人年齢分布  💬 |
| 53 | シェーグレン症候群 [免] 💬 "Sjogren syndrome", "Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS" | 305 305 trials | 82 / 190 / 40 / 34 💬 | 325 325 drugs [ 104 104 drugs ] | 58 58 genes | 188 pathways | 19290 19,290人年齢分布  💬 |
| 54 | 成人スチル病 [免] 💬 "Adult still disease", "Adult-onset Stills disease" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene | 12 pathways | 4458 4,458人年齢分布  💬 |
| 55 | 再発性多発軟骨炎 [免] 💬 "Relapsing polychondritis" | 8 8 trials | 1 / 4 / 0 / 0 💬 | 10 10 drugs [ 9 9 drugs ] | 12 12 genes | 101 pathways | 993 993人年齢分布  💬 |
| 56 | ベーチェット病 [免] 💬 "Behcet disease", "Behçet disease", "BD", "Complete Behcet disease", "Complete Behçet disease", "CBD", "Incomplete Behcet disease", "Incomplete Behçet disease", "Special-type Behcet disease", "Special-type Behçet disease", "Special-type BD" | 81 81 trials | 10 / 20 / 26 / 6 💬 | 107 107 drugs [ 30 30 drugs ] | 36 36 genes | 116 pathways | 15157 15,157人年齢分布  💬 |
| 106 | クリオピリン関連周期熱症候群 [免] 💬 "Cryopyrin-associated periodic syndrome", "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" | 42 42 trials | 29 / 14 / 13 / 5 💬 | 24 24 drugs [ 4 4 drugs ] | 4 4 genes | 48 pathways | 88 88人年齢分布  💬 |
| 107 | 若年性特発性関節炎 [免] 💬 "Juvenile idiopathic arthritis", "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" | 447 447 trials | 181 / 82 / 206 / 69 💬 | 297 297 drugs [ 57 57 drugs ] | 52 52 genes | 146 pathways | 1060 1,060人年齢分布  💬 |
| 108 | TNF受容体関連周期性症候群 [免] 💬 "TNF receptor-associated periodic syndrome" | 4 4 trials | 5 / 1 / 2 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene | 44 pathways | 35 35人年齢分布  💬 |
| 110 | ブラウ症候群 [免] 💬 "Blau syndrome", "Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS" | 0 - | 0 - | 0 - | 21 21人年齢分布  💬 |
| 266 | 家族性地中海熱 [免] 💬 "Familial mediterranean fever" | 28 28 trials | 1 / 9 / 10 / 1 💬 | 22 22 drugs [ 5 5 drugs ] | 14 14 genes | 59 pathways | 657 657人年齢分布  💬 |
| 267 | 高IgＤ症候群 [免] 💬 "Hyper-IgD syndrome", "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" | 11 11 trials | 0 / 2 / 9 / 0 💬 | 6 6 drugs [ 1 1 drug ] | 1 1 gene | 44 pathways | 3 3人年齢分布  💬 |
| 268 | 中條・西村症候群 [免] 💬 "Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" | 0 - | 0 - | 0 - | 8 8人年齢分布  💬 |
| 269 | 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 [免] 💬 "Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" | 23 23 trials | 7 / 14 / 7 / 2 💬 | 30 30 drugs [ 12 12 drugs ] | 15 15 genes | 106 pathways | 14 14人年齢分布  💬 |
| 300 | IgＧ４関連疾患 [免] 💬 "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" | 40 40 trials | 4 / 8 / 15 / 5 💬 | 47 47 drugs [ 21 21 drugs ] | 18 18 genes | 141 pathways | 3766 3,766人年齢分布  💬 |
| 306 | 好酸球性副鼻腔炎 [免] 💬 [聴] 💬 "Eosinophilic sinusitis" | 0 - | 0 - | 0 - | 22340 22,340人年齢分布  💬 |
| 325 | 遺伝性自己炎症疾患 [免] 💬 "Hereditary autoinflammatory syndrome", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" | 5 5 trials | 1 / 4 / 0 / 0 💬 | 11 11 drugs [ 6 6 drugs ] | 2 2 genes | 35 pathways | 14 14人年齢分布  💬 |