Disease 指定難病

疾患数 : 348 - 臨床試験総数 : 39,610 / 薬物総数 : 18,765 - ( DrugBank : 2,435 ) / 標的遺伝子総数 : 703 - 標的パスウェイ総数 : 305

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 (R5年度)
60	再生不良性貧血 [血] 💬 "Aplastic anemia" 60. 再生不良性貧血 × [血] 血液疾患	305 trials    | 52 / 170 / 34 / 33 💬 60. 再生不良性貧血 × Some trials have no Phase data.	328 drugs   [ 91 drugs ]	60 genes   |  183 pathways	8,395人 年齢分布💬 60. 再生不良性貧血 × 年齢 患者数 0-9 3 10-19 42 20-29 400 30-39 462 40-49 717 50-59 1,023 60-69 1,463 70-74 1,174 75- 3,111
61	自己免疫性溶血性貧血 [血] 💬 "Autoimmune hemolytic anemia", "AIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Evans syndrome" 61. 自己免疫性溶血性貧血 × [血] 血液疾患	183 trials    | 18 / 77 / 80 / 2 💬 61. 自己免疫性溶血性貧血 × Some trials have no Phase data.	119 drugs   [ 42 drugs ]	31 genes   |  156 pathways	1,386人 年齢分布💬 61. 自己免疫性溶血性貧血 × 年齢 患者数 0-9 - 10-19 3 20-29 40 30-39 30 40-49 88 50-59 145 60-69 243 70-74 219 75- 618
62	発作性夜間ヘモグロビン尿症 [血] 💬 "Paroxysmal nocturnal hemoglobinuria", "PNH" 62. 発作性夜間ヘモグロビン尿症 × [血] 血液疾患	358 trials    | 24 / 109 / 199 / 5 💬 62. 発作性夜間ヘモグロビン尿症 × Some trials have no Phase data.	160 drugs   [ 35 drugs ]	33 genes   |  116 pathways	1,121人 年齢分布💬 62. 発作性夜間ヘモグロビン尿症 × 年齢 患者数 0-9 - 10-19 5 20-29 53 30-39 101 40-49 158 50-59 197 60-69 161 70-74 116 75- 330
63	免疫性血小板減少症 [血] 💬 "Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia", "Immune thrombocytopenic purpura" 63. 免疫性血小板減少症 × [血] 血液疾患	575 trials    | 38 / 128 / 251 / 41 💬 63. 免疫性血小板減少症 × Some trials have no Phase data.	261 drugs   [ 64 drugs ]	61 genes   |  142 pathways	16,600人 年齢分布💬 63. 免疫性血小板減少症 × 年齢 患者数 0-9 3 10-19 66 20-29 569 30-39 803 40-49 1,309 50-59 2,052 60-69 2,735 70-74 2,171 75- 6,892
64	血栓性血小板減少性紫斑病 [血] 💬 "Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS" 64. 血栓性血小板減少性紫斑病 × [血] 血液疾患	109 trials    | 5 / 35 / 54 / 3 💬 64. 血栓性血小板減少性紫斑病 × Some trials have no Phase data.	67 drugs   [ 17 drugs ]	18 genes   |  75 pathways	405人 年齢分布💬 64. 血栓性血小板減少性紫斑病 × 年齢 患者数 0-9 - 10-19 3 20-29 16 30-39 35 40-49 63 50-59 73 60-69 66 70-74 54 75- 95
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", "Other combined immunodeficiencies", "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", "Other predominantly antibody deficiencies", "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", "Other diseases of immune dysregulation", "Familial hemophagocytic syndrome", "FHPS", "Familial hemophagocytic lymphohistiocytosis", "FHL", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Autoimmune polyglandular syndrome", "APS", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Severe congenital neutropenia", "Cyclic neutropenia", "Other congenital defects of neutrophil function", "p14 deficiency", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Other congenital defects of phagocyte function", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Other defects in innate immunity", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "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", "Hereditary angioedema", "C1 inhibitor deficiency", "Inherited deficiency of complement system", "Factor D deficiency", "Factor I deficiency", "Factor H deficiency", "Properdin deficiency", "MASP1 deficiency", "MASP2 deficiency", "3MC syndrome", "Immunodeficiency associated with FCN3 mutation", "FCN3" 65. 原発性免疫不全症候群 × [血] 血液疾患	798 trials    | 123 / 261 / 315 / 49 💬 65. 原発性免疫不全症候群 × Some trials have no Phase data.	585 drugs   [ 118 drugs ]	100 genes   |  216 pathways	2,186人 年齢分布💬 65. 原発性免疫不全症候群 × 年齢 患者数 0-9 5 10-19 58 20-29 453 30-39 457 40-49 497 50-59 362 60-69 200 70-74 73 75- 81
282	先天性赤血球形成異常性貧血 [血] 💬 "Congenital dyserythropoietic anemia", "CDA" 282. 先天性赤血球形成異常性貧血 × [血] 血液疾患	2 trials    | 0 / 1 / 0 / 1 💬 282. 先天性赤血球形成異常性貧血 × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	3 genes   |  7 pathways	8人 年齢分布💬 282. 先天性赤血球形成異常性貧血 × 年齢 患者数 0-9 - 10-19 - 20-29 3 30-39 2 40-49 2 50-59 - 60-69 1 70-74 - 75- -
283	後天性赤芽球癆 [血] 💬 "Acquired pure red cell aplasia", "Pure red cell aplasia" 283. 後天性赤芽球癆 × [血] 血液疾患	21 trials    | 2 / 10 / 2 / 3 💬 283. 後天性赤芽球癆 × Some trials have no Phase data.	35 drugs   [ 20 drugs ]	27 genes   |  110 pathways	923人 年齢分布💬 283. 後天性赤芽球癆 × 年齢 患者数 0-9 - 10-19 1 20-29 6 30-39 22 40-49 43 50-59 87 60-69 151 70-74 143 75- 470
284	ダイアモンド・ブラックファン貧血 [血] 💬 "Diamond-Blackfan anemia" 284. ダイアモンド・ブラックファン貧血 × [血] 血液疾患	39 trials    | 6 / 12 / 1 / 1 💬 284. ダイアモンド・ブラックファン貧血 × Some trials have no Phase data.	95 drugs   [ 35 drugs ]	34 genes   |  131 pathways	29人 年齢分布💬 284. ダイアモンド・ブラックファン貧血 × 年齢 患者数 0-9 1 10-19 1 20-29 15 30-39 9 40-49 3 50-59 - 60-69 - 70-74 - 75- -
285	ファンコニ貧血 [血] 💬 "Fanconi anemia" 285. ファンコニ貧血 × [血] 血液疾患	69 trials    | 17 / 30 / 3 / 0 💬 285. ファンコニ貧血 × Some trials have no Phase data.	109 drugs   [ 37 drugs ]	45 genes   |  169 pathways	13人 年齢分布💬 285. ファンコニ貧血 × 年齢 患者数 0-9 1 10-19 - 20-29 6 30-39 6 40-49 - 50-59 - 60-69 - 70-74 - 75- -
286	遺伝性鉄芽球性貧血 [血] 💬 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" 286. 遺伝性鉄芽球性貧血 × [血] 血液疾患	7 trials    | 0 / 0 / 0 / 0 💬 286. 遺伝性鉄芽球性貧血 × Some trials have no Phase data.	25 drugs   [ 10 drugs ]	19 genes   |  64 pathways	13人 年齢分布💬 286. 遺伝性鉄芽球性貧血 × 年齢 患者数 0-9 - 10-19 - 20-29 3 30-39 - 40-49 2 50-59 4 60-69 3 70-74 - 75- 1
288	自己免疫性後天性凝固因子欠乏症 [血] 💬 "Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency" 288. 自己免疫性後天性凝固因子欠乏症 × [血] 血液疾患	228 trials    | 6 / 24 / 105 / 24 💬 288. 自己免疫性後天性凝固因子欠乏症 × Some trials have no Phase data.	168 drugs   [ 33 drugs ]	12 genes   |  26 pathways	455人 年齢分布💬 288. 自己免疫性後天性凝固因子欠乏症 × 年齢 患者数 0-9 - 10-19 1 20-29 1 30-39 8 40-49 8 50-59 29 60-69 64 70-74 64 75- 280
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" 327. 特発性血栓症（遺伝性血栓性素因によるものに限る。） × [血] 血液疾患	-	-	-	275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。） × 年齢 患者数 0-9 - 10-19 1 20-29 49 30-39 64 40-49 63 50-59 45 60-69 38 70-74 9 75- 6
331	特発性多中心性キャッスルマン病 [血] 💬 "Idiopathic multicentric castleman disease", "iMCD", "Castleman disease" 331. 特発性多中心性キャッスルマン病 × [血] 血液疾患	40 trials    | 7 / 28 / 0 / 2 💬 331. 特発性多中心性キャッスルマン病 × Some trials have no Phase data.	45 drugs   [ 29 drugs ]	43 genes   |  163 pathways	1,884人 年齢分布💬 331. 特発性多中心性キャッスルマン病 × 年齢 患者数 0-9 - 10-19 11 20-29 26 30-39 105 40-49 295 50-59 564 60-69 443 70-74 199 75- 241
347	出血性線溶異常症 [血] 💬 "Hemorrhagic disorders of fibrinolysis", "Hemorrhagic fibrinolytic disorder" 347. 出血性線溶異常症 × [血] 血液疾患	-	-	-	-