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
疾患群: 血液系疾患| 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 - (1) 概要、診断基準等, (2) 医療費受給者証所持者数 (2021年度) |
|---|---|---|---|---|---|
| 60 | 再生不良性貧血 [血] 💬 "Aplastic anemia", "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia" | 245 245 trials 53 / 143 / 30 / 21 💬 | 318 318 drugs [ 86 86 drugs ] | 44 44 genes 166 pathways | 8348 (1) 10,287人 (2) 8,348人 年齢分布  💬 |
| 61 | 自己免疫性溶血性貧血 [血] 💬 "Autoimmune hemolytic anemia", "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome" | 146 146 trials 29 / 69 / 68 / 6 💬 | 131 131 drugs [ 59 59 drugs ] | 28 28 genes 158 pathways | 1178 (1) 約2,600人 (2) 1,178人 年齢分布  💬 |
| 62 | 発作性夜間ヘモグロビン尿症 [血] 💬 "Paroxysmal nocturnal hemoglobinuria", "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type" | 292 292 trials 107 / 106 / 174 / 23 💬 | 151 151 drugs [ 49 49 drugs ] | 22 22 genes 108 pathways | 959 (1) 約400人 (2) 959人 年齢分布  💬 |
| 63 | 特発性血小板減少性紫斑病 [血] 💬 "Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia" | 391 391 trials 148 / 85 / 191 / 61 💬 | 235 235 drugs [ 50 50 drugs ] | 49 49 genes 139 pathways | 16972 (1) 24,956人 (2) 16,972人 年齢分布  💬 |
| 64 | 血栓性血小板減少性紫斑病 [血] 💬 "Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP" | 92 92 trials 29 / 31 / 50 / 8 💬 | 85 85 drugs [ 21 21 drugs ] | 18 18 genes 76 pathways | 361 (1) 年間約500人発症（推計） (2) 361人 年齢分布  💬 |
| 65 | 原発性免疫不全症候群 [血] 💬 "Primary immunodeficiency", "X-linked severe combined immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "Immunodeficiency associated with FCN3 mutation", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III" | 500 500 trials 211 / 205 / 173 / 59 💬 | 614 614 drugs [ 119 119 drugs ] | 92 92 genes 217 pathways | 1964 (1) 1,383人 (2) 1,964人 年齢分布  💬 |
| 282 | 先天性赤血球形成異常性貧血 [血] 💬 "Congenital dyserythropoietic anemia", "CDA" | 1 1 trial 0 / 0 / 0 / 1 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 4 pathways | 11 (1) 100人未満 (2) 11人 年齢分布  💬 |
| 283 | 後天性赤芽球癆 [血] 💬 "Acquired pure red cell aplasia", "Pure red cell aplasia" | 19 19 trials 7 / 13 / 2 / 5 💬 | 36 36 drugs [ 23 23 drugs ] | 20 20 genes 102 pathways | 829 (1) 年間新規患者発生率：0.3人/100万人 (2) 829人 年齢分布  💬 |
| 284 | ダイアモンド・ブラックファン貧血 [血] 💬 "Diamond-Blackfan anemia" | 36 36 trials 18 / 25 / 4 / 2 💬 | 95 95 drugs [ 34 34 drugs ] | 23 23 genes 126 pathways | 23 (1) 約200人 (2) 23人 年齢分布  💬 |
| 285 | ファンコニ貧血 [血] 💬 "Fanconi anemia" | 62 62 trials 27 / 37 / 3 / 1 💬 | 93 93 drugs [ 30 30 drugs ] | 30 30 genes 144 pathways | 13 (1) 約200人 (2) 13人 年齢分布  💬 |
| 286 | 遺伝性鉄芽球性貧血 [血] 💬 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" | 7 7 trials 5 / 2 / 1 / 1 💬 | 20 20 drugs [ 10 10 drugs ] | 8 8 genes 43 pathways | 13 (1) 100人未満 (2) 13人 年齢分布  💬 |
| 327 | 特発性血栓症（遺伝性血栓性素因によるものに限る。） [血] 💬 "Idiopathic thrombosis" | 0 - | 0 - | 0 - | 205 (1) 研究班の全国調査から、本邦での患者総数は、約2,000人、年間発症患者数は、新生児・乳児期発症患者は100人未満、成人発症患者は約500人と推定される。 (2) 205人 年齢分布  💬 |
| 331 | 特発性多中心性キャッスルマン病 [血] 💬 "Idiopathic multicentric castleman disease", "iMCD", "Castleman disease" | 33 33 trials 15 / 24 / 2 / 4 💬 | 41 41 drugs [ 21 21 drugs ] | 22 22 genes 123 pathways | 1526 (1) 約1,500人 (2) 1,526人 年齢分布  💬 |