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
| 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 (R4年度) |
|---|---|---|---|---|---|
| 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", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" | 41 41 trials | 2 / 8 / 16 / 3 💬 | 27 27 drugs [ 8 8 drugs ] | 7 7 genes | 10 pathways | 3869 3,869人年齢分布  💬 |
| 73 | 下垂体性TSH分泌亢進症 [内] 💬 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism" | 1 1 trial | 0 / 0 / 1 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 200 200人年齢分布  💬 |
| 74 | 下垂体性PRL分泌亢進症 [内] 💬 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" | 19 19 trials | 3 / 6 / 1 / 1 💬 | 28 28 drugs [ 10 10 drugs ] | 14 14 genes | 65 pathways | 2206 2,206人年齢分布  💬 |
| 75 | クッシング病 [内] 💬 "Cushing disease", "Cushing" | 205 205 trials | 126 / 86 / 92 / 38 💬 | 176 176 drugs [ 45 45 drugs ] | 61 61 genes | 127 pathways | 960 960人年齢分布  💬 |
| 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", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 29 29 trials | 0 / 0 / 10 / 8 💬 | 44 44 drugs [ 14 14 drugs ] | 5 5 genes | 15 pathways | 37 37人年齢分布  💬 |
| 77 | 下垂体性成長ホルモン分泌亢進症 [内] 💬 "Growth hormone secreting pituitary adenoma", "Pituitary growth hormone secretion hyperthyroidism" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes | 20 pathways | 4348 4,348人年齢分布  💬 |
| 78 | 下垂体前葉機能低下症 [内] 💬 "Hypopituitarism", "Anterior pituitary hypothyroidism", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "GHD", "Childhood GHD", "Childhood-onset GHD", "CGHD", "Adult GHD", "Adult-onset GHD", "AGHD", "Prolactin deficiency", "PRL deficiency" | 492 492 trials | 130 / 105 / 159 / 65 💬 | 341 341 drugs [ 47 47 drugs ] | 45 45 genes | 100 pathways | 19693 19,693人年齢分布  💬 |
| 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 💬 | 5 5 drugs [ 3 3 drugs ] | 3 3 genes | 3 pathways | 46 46人年齢分布  💬 |
| 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", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency" | 87 87 trials | 30 / 40 / 39 / 6 💬 | 87 87 drugs [ 23 23 drugs ] | 12 12 genes | 68 pathways | 1014 1,014人年齢分布  💬 |
| 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 - | 55 55人年齢分布  💬 |
| 83 | アジソン病 [内] 💬 "Addison disease", "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome" | 20 20 trials | 6 / 5 / 3 / 6 💬 | 39 39 drugs [ 13 13 drugs ] | 6 6 genes | 18 pathways | 346 346人年齢分布  💬 |
| 191 | ウェルナー症候群 [内] 💬 "Werner syndrome" | 3 3 trials | 2 / 1 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 0 - | 100 100人年齢分布  💬 |
| 193 | プラダー・ウィリ症候群 [内] 💬 "Prader-Willi syndrome" | 113 113 trials | 27 / 42 / 50 / 13 💬 | 111 111 drugs [ 26 26 drugs ] | 48 48 genes | 102 pathways | 175 175人年齢分布  💬 |
| 232 | カーニー複合 [内] 💬 "Carney complex" | 2 2 trials | 0 / 1 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 1 1 gene | 29 pathways | 25 25人年齢分布  💬 |
| 233 | ウォルフラム症候群 [内] 💬 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 11 11 trials | 6 / 10 / 2 / 1 💬 | 17 17 drugs [ 8 8 drugs ] | 12 12 genes | 41 pathways | 14 14人年齢分布  💬 |
| 235 | 副甲状腺機能低下症 [内] 💬 "Hypoparathyroidism", "Accessory thyroid hypergasia disease" | 88 88 trials | 16 / 20 / 38 / 18 💬 | 107 107 drugs [ 24 24 drugs ] | 5 5 genes | 7 pathways | 311 311人年齢分布  💬 |
| 236 | 偽性副甲状腺機能低下症 [内] 💬 "Pseudohypoparathyroidism", "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2" | 3 3 trials | 0 / 2 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 18 18 genes | 23 pathways | 119 119人年齢分布  💬 |
| 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" | 0 - | 0 - | 0 - | 16 16人年齢分布  💬 |
| 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", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" | 28 28 trials | 5 / 5 / 8 / 4 💬 | 20 20 drugs [ 9 9 drugs ] | 3 3 genes | 16 pathways | 462 462人年齢分布  💬 |
| 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 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2" | 0 - | 0 - | 0 - | 5 5人年齢分布  💬 |
| 265 | 脂肪萎縮症 [内] 💬 "Lipodystrophy", "Generalized congenital lipodystrophy", "Berardinelli-Seip syndrome", "Familial partial lipodystrophy", "Dunnigan-type familial partial lipodystrophy", "Kobbering-type familial partial lipodystrophy", "Acquired generalized lipodystrophy", "Lawrence syndrome", "Partial acquired lipodystrophy", "Barraquer-Simons syndrome" | 112 112 trials | 33 / 34 / 20 / 30 💬 | 155 155 drugs [ 55 55 drugs ] | 25 25 genes | 97 pathways | 35 35人年齢分布  💬 |