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
疾患群: 内分泌系疾患告示 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 (2021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 | 3701 (1) [告示番号72-78計]17,069人 (2) 3,701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 - | 173 (1) [告示番号72-78計]17,069人 (2) 173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 | 2177 (1) [告示番号72-78計]17,069人 (2) 2,177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 | 911 (1) [告示番号72-78計]17,069人 (2) 911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 | 36 (1) [告示番号72-78計]17,069人 (2) 36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 | 4388 (1) [告示番号72-78計]17,069人 (2) 4,388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 | 19006 (1) [告示番号72-78計]17,069人 (2) 19,006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 | 45 (1) 約3,000人(研究班による) (2) 45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 | 945 (1) 約1,800人 (2) 945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 - | 52 (1) 約1,000人 (2) 52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 | 327 (1) 約1,000人(研究班による) (2) 327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 | 12 (1) 約200人 (2) 12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 | 302 (1) 約900人 (2) 302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 | 116 (1) 約400人 (2) 116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 - | 14 (1) 100人未満 (2) 14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 (1) 100人未満 (2) 5人 年齢分布 ![]() |