Disease 指定難病


疾患数 : 338 - 臨床試験総数 : 33,695 / 薬物総数 : 21,458 - ( DrugBank : 2,156 ) / 標的遺伝子総数 : 606 - 標的パスウェイ総数 : 291

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 (2020年度)
60再生不良性貧血 [] 💬
"Aplastic anemia", "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia"
 235 trials 
 55 / 143 / 30 / 16 💬 
 384 drugs 
 [ 83 drugs
 42 genes 
 159 pathways 
(1) 10,287人
(2) 8,724人
年齢分布💬
61自己免疫性溶血性貧血 [] 💬
"Autoimmune hemolytic anemia", "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome"
 137 trials 
 27 / 69 / 61 / 5 💬 
 139 drugs 
 [ 55 drugs
 25 genes 
 152 pathways 
(1) 約2,600人
(2) 1,275人
年齢分布💬
62発作性夜間ヘモグロビン尿症 [] 💬
"Paroxysmal nocturnal hemoglobinuria", "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type"
 271 trials 
 125 / 106 / 157 / 27 💬 
 173 drugs 
 [ 49 drugs
 21 genes 
 105 pathways 
(1) 約400人
(2) 927人
年齢分布💬
63特発性血小板減少性紫斑病 [] 💬
"Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia"
 363 trials 
 144 / 82 / 175 / 53 💬 
 217 drugs 
 [ 43 drugs
 45 genes 
 137 pathways 
(1) 24,956人
(2) 18,793人
年齢分布💬
64血栓性血小板減少性紫斑病 [] 💬
"Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP"
 86 trials 
 29 / 28 / 46 / 8 💬 
 83 drugs 
 [ 20 drugs
 16 genes 
 63 pathways 
(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 [] 💬
"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"
 482 trials 
 203 / 202 / 161 / 59 💬 
 661 drugs 
 [ 119 drugs
 90 genes 
 211 pathways 
(1) 1,383人
(2) 1,943人
年齢分布💬
282先天性赤血球形成異常性貧血 [] 💬
"Congenital dyserythropoietic anemia", "CDA"
 1 trial 
 0 / 0 / 0 / 1 💬 
 1 drug 
 [ 1 drug
 2 genes 
 4 pathways 
(1) 100人未満
(2) 9人
年齢分布💬
283後天性赤芽球癆 [] 💬
"Acquired pure red cell aplasia", "Pure red cell aplasia"
 18 trials 
 7 / 12 / 2 / 5 💬 
 42 drugs 
 [ 22 drugs
 18 genes 
 97 pathways 
(1) 年間新規患者発生率:0.3人/100万人
(2) 818人
年齢分布💬
284ダイアモンド・ブラックファン貧血 [] 💬
"Diamond-Blackfan anemia"
 37 trials 
 18 / 26 / 4 / 2 💬 
 110 drugs 
 [ 34 drugs
 22 genes 
 123 pathways 
(1) 約200人
(2) 23人
年齢分布💬
285ファンコニ貧血 [] 💬
"Fanconi anemia"
 59 trials 
 28 / 40 / 3 / 1 💬 
 118 drugs 
 [ 32 drugs
 30 genes 
 154 pathways 
(1) 約200人
(2) 12人
年齢分布💬
286遺伝性鉄芽球性貧血 [] 💬
"Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia"
 7 trials 
 5 / 2 / 1 / 1 💬 
 23 drugs 
 [ 10 drugs
 8 genes 
 42 pathways 
(1) 100人未満
(2) 12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。) [] 💬
"Idiopathic thrombosis"
   (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) 177人
年齢分布💬
331特発性多中心性キャッスルマン病 [] 💬
"Idiopathic multicentric castleman disease", "iMCD", "Castleman disease"
 33 trials 
 16 / 23 / 2 / 4 💬 
 46 drugs 
 [ 25 drugs
 31 genes 
 155 pathways 
(1) 約1,500人
(2) 1,354人
年齢分布💬