Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 43,690 / 薬物総数 : 27,527 - ( DrugBank : 2,441 ) / 標的遺伝子総数 : 714 - 標的パスウェイ総数 : 315
| 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 R6年度医療費受給者証所持者数（修正版） |
|---|---|---|---|---|---|
| 72 | 下垂体性ADH分泌異常症 [内] 💬 "Pituitary ADH secretion disorder", "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Disorders of antidiuretic hormone (ADH) secretion", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" | 49 49 trials | 2 / 11 / 16 / 3 💬 | 39 39 drugs [ 10 10 drugs ] | 6 6 genes | 10 pathways | 3997 3,997人年齢分布
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| 73 | 下垂体性TSH分泌亢進症 [内] 💬 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism", "Pituitary TSH hypersecretion" | 1 1 trial | 0 / 0 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 2 2 genes | 5 pathways | 237 237人年齢分布
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| 74 | 下垂体性PRL分泌亢進症 [内] 💬 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma", "Hyperprolactinemia" | 55 55 trials | 6 / 11 / 4 / 9 💬 | 76 76 drugs [ 19 19 drugs ] | 17 17 genes | 83 pathways | 2196 2,196人年齢分布
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| 75 | クッシング病 [内] 💬 "Cushing disease", "Cushing syndrome" | 231 231 trials | 5 / 76 / 85 / 22 💬 | 224 224 drugs [ 47 47 drugs ] | 63 63 genes | 145 pathways | 999 999人年齢分布
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| 76 | 下垂体性ゴナドトロピン分泌亢進症 [内] 💬 "Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Abnormal pituitary gonadotropin secretion", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 41 41 trials | 0 / 0 / 13 / 12 💬 | 46 46 drugs [ 11 11 drugs ] | 5 5 genes | 15 pathways | 28 28人年齢分布
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| 77 | 下垂体性成長ホルモン分泌亢進症 [内] 💬 "Growth hormone secreting pituitary adenoma", "Excessive secretion of growth hormone", "Pituitary growth hormone secretion hyperthyroidism", "Acromegaly" | 360 360 trials | 18 / 83 / 119 / 35 💬 | 313 313 drugs [ 26 26 drugs ] | 26 26 genes | 87 pathways | 4389 4,389人年齢分布
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| 78 | 下垂体前葉機能低下症 [内] 💬 "Hypopituitarism", "Anterior pituitary hypothyroidism", "PRL deficiency" | 35 35 trials | 0 / 4 / 2 / 11 💬 | 59 59 drugs [ 11 11 drugs ] | 13 13 genes | 42 pathways | 19920 19,920人年齢分布
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| 80 | 甲状腺ホルモン不応症 [内] 💬 "Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" | 1 1 trial | 1 / 0 / 0 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 2 2 genes | 3 pathways | 50 50人年齢分布
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| 81 | 先天性副腎皮質酵素欠損症 [内] 💬 "Congenital adrenal hyperplasia", "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Aldosterone synthase deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency" | 107 107 trials | 11 / 50 / 45 / 3 💬 | 101 101 drugs [ 24 24 drugs ] | 14 14 genes | 71 pathways | 1113 1,113人年齢分布
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| 82 | 先天性副腎低形成症 [内] 💬 "Congenital adrenal hypoplasia", "X-linked congenital adrenal hypoplasia", "DAX-1 deficiency", "Congenital adrenal hypoplasia, autosomal recessive form", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" | 0 - | 0 - | 0 - | 61 61人年齢分布
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| 83 | アジソン病 [内] 💬 "Addison disease", "Primary chronic adrenocortical insufficiency" | 23 23 trials | 0 / 5 / 2 / 5 💬 | 42 42 drugs [ 11 11 drugs ] | 3 3 genes | 7 pathways | 398 398人年齢分布
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| 191 | ウェルナー症候群 [内] 💬 "Werner syndrome" | 4 4 trials | 2 / 2 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 0 - | 89 89人年齢分布
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| 193 | プラダー・ウィリ症候群 [内] 💬 "Prader-Willi syndrome" | 140 140 trials | 8 / 50 / 58 / 10 💬 | 137 137 drugs [ 26 26 drugs ] | 51 51 genes | 64 pathways | 238 238人年齢分布
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| 232 | カーニー複合 [内] 💬 "Carney complex", "CNC" | 2 2 trials | 0 / 1 / 0 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 1 1 gene | 30 pathways | 26 26人年齢分布
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| 233 | ウォルフラム症候群 [内] 💬 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 12 12 trials | 1 / 11 / 1 / 0 💬 | 19 19 drugs [ 7 7 drugs ] | 5 5 genes | 26 pathways | 16 16人年齢分布
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| 235 | 副甲状腺機能低下症 [内] 💬 "Hypoparathyroidism", "Accessory thyroid hypergasia disease" | 120 120 trials | 11 / 28 / 42 / 19 💬 | 167 167 drugs [ 31 31 drugs ] | 5 5 genes | 7 pathways | 352 352人年齢分布
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| 236 | 偽性副甲状腺機能低下症 [内] 💬 "Pseudohypoparathyroidism", "PHP" | 6 6 trials | 0 / 5 / 0 / 0 💬 | 5 5 drugs [ 3 3 drugs ] | 20 20 genes | 28 pathways | 133 133人年齢分布
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| 237 | 副腎皮質刺激ホルモン不応症 [内] 💬 "ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome", "Familial glucocorticoid deficiency", "FGD" | 0 - | 0 - | 0 - | 20 20人年齢分布
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| 238 | ビタミンＤ抵抗性くる病／骨軟化症 [内] 💬 "Vitamin D-resistant rickets", "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Vitamin D-resistant rickets", "VDRR", "Hypophosphatemic rickets", "Vitamin D-resistant osteomalacia", "VDRO", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" | 34 34 trials | 6 / 7 / 8 / 4 💬 | 26 26 drugs [ 11 11 drugs ] | 3 3 genes | 16 pathways | 624 624人年齢分布
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| 239 | ビタミンＤ依存性くる病／骨軟化症 [内] 💬 "Vitamin D-dependent rickets", "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1A", "VDDR1A", "Vitamin D-dependent rickets type 2", "VDDR2", "Vitamin D-dependent rickets type 1B", "VDDR1B", "Vitamin D-dependent rickets type 3", "VDDR3" | 0 - | 0 - | 0 - | 6 6人年齢分布
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| 265 | 脂肪萎縮症 [内] 💬 "Lipodystrophy" | 133 133 trials | 7 / 33 / 25 / 27 💬 | 176 176 drugs [ 58 58 drugs ] | 30 30 genes | 102 pathways | 45 45人年齢分布
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