Disease The intractable diseases designated by MHLW, Japan

Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2022)
60	Aplastic anemia [Hem] 💬 "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia"	245 trials    | 53 / 143 / 30 / 21 💬	318 drugs   [ 86 drugs ]	44 genes   166 pathways	8,302 patients Age distribution💬
61	Autoimmune hemolytic anemia [Hem] 💬 "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome"	146 trials    | 29 / 69 / 68 / 6 💬	131 drugs   [ 59 drugs ]	28 genes   158 pathways	1,278 patients Age distribution💬
62	Paroxysmal nocturnal hemoglobinuria [Hem] 💬 "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type"	292 trials    | 107 / 106 / 174 / 23 💬	151 drugs   [ 49 drugs ]	22 genes   108 pathways	1,035 patients Age distribution💬
63	Idiopathic thrombocytopenic purpura [Hem] 💬 "Primary immune thrombocytopenia"	391 trials    | 148 / 85 / 191 / 61 💬	235 drugs   [ 50 drugs ]	49 genes   139 pathways	16,599 patients Age distribution💬
64	Thrombotic thrombocytopenic purpura [Hem] 💬 "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP"	92 trials    | 29 / 31 / 50 / 8 💬	85 drugs   [ 21 drugs ]	18 genes   76 pathways	385 patients Age distribution💬
65	Primary immunodeficiency [Hem] 💬 "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 trials    | 211 / 205 / 173 / 59 💬	614 drugs   [ 119 drugs ]	92 genes   217 pathways	2,062 patients Age distribution💬
282	Congenital dyserythropoietic anemia [Hem] 💬 "CDA"	1 trial    | 0 / 0 / 0 / 1 💬	1 drug   [ 1 drug ]	2 genes   4 pathways	8 patients Age distribution💬
283	Acquired pure red cell aplasia [Hem] 💬 "Pure red cell aplasia"	19 trials    | 7 / 13 / 2 / 5 💬	36 drugs   [ 23 drugs ]	20 genes   102 pathways	897 patients Age distribution💬
284	Diamond-Blackfan anemia [Hem] 💬	36 trials    | 18 / 25 / 4 / 2 💬	95 drugs   [ 34 drugs ]	23 genes   126 pathways	22 patients Age distribution💬
285	Fanconi anemia [Hem] 💬	62 trials    | 27 / 37 / 3 / 1 💬	93 drugs   [ 30 drugs ]	30 genes   144 pathways	14 patients Age distribution💬
286	Hereditary sideroblastic anemia [Hem] 💬 "Congenital sideroblastic anemia", "Sideroblastic anemia"	7 trials    | 5 / 2 / 1 / 1 💬	20 drugs   [ 10 drugs ]	8 genes   43 pathways	14 patients Age distribution💬
288	Autoimmune acquired coagulation factor deficiency [Hem] 💬 "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency"	206 trials    | 44 / 31 / 95 / 28 💬	231 drugs   [ 28 drugs ]	10 genes   21 pathways	404 patients Age distribution💬
327	Idiopathic thrombosis [Hem] 💬	-	-	-	243 patients Age distribution💬
331	Idiopathic multicentric castleman disease [Hem] 💬 "iMCD", "Castleman disease"	33 trials    | 15 / 24 / 2 / 4 💬	41 drugs   [ 21 drugs ]	22 genes   123 pathways	1,694 patients Age distribution💬