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: 皮膚・結合組織疾患| 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) |
|---|---|---|---|---|---|
| 34 | 神経線維腫症 [皮] 💬 "Neurofibromatosis", "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2" | 133 133 trials 54 / 85 / 15 / 8 💬 | 186 186 drugs [ 67 67 drugs ] | 79 79 genes 190 pathways | 4056 (1) 3,588人 (2) 4,056人 年齢分布  💬 |
| 35 | 天疱瘡 [皮] 💬 "Pemphigus", "Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP" | 99 99 trials 44 / 36 / 49 / 7 💬 | 124 124 drugs [ 36 36 drugs ] | 23 23 genes 169 pathways | 3236 (1) 約6,000人 (2) 3,236人 年齢分布  💬 |
| 36 | 表皮水疱症 [皮] 💬 "Epidermolysis bullosa", "Epidermolysis bullosa simplex", "EBS", "Junctional epidermolysis bullosa", "JEB", "Junctional epidermolysis bullosa type Herlitz", "JEB-H", "Junctional epidermolysis bullosa type non-Herlitz", "JEB-nH", "Dominant dystrophic epidermolysis bullosa", "DDEB", "Dystrophic epidermolysis bullosa", "DEB", "Epidermolysis bullosa dystrophica", "Recessive dystrophic epidermolysis bullosa", "RDEB", "Kindler syndrome" | 163 163 trials 117 / 99 / 53 / 16 💬 | 185 185 drugs [ 46 46 drugs ] | 50 50 genes 125 pathways | 290 (1) 347人 (2) 290人 年齢分布  💬 |
| 37 | 膿疱性乾癬（汎発型） [皮] 💬 "Generalised pustular psoriasis", "Pustular psoriasis", "Acute generalised pustular psoriasis, von Zumbusch type", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities", "Infantile generalized pustular psoriasis", "Pediatric generalized pustular psoriasis" | 79 79 trials 27 / 30 / 39 / 8 💬 | 57 57 drugs [ 21 21 drugs ] | 20 20 genes 102 pathways | 2070 (1) 2,072人 (2) 2,070人 年齢分布  💬 |
| 38 | スティーヴンス・ジョンソン症候群 [皮] 💬 "Stevens-Johnson syndrome", "SJS", "Mucocutaneous ocular syndrome" | 17 17 trials 11 / 11 / 4 / 2 💬 | 29 29 drugs [ 9 9 drugs ] | 15 15 genes 101 pathways | 169 (1) 約1,500人 (2) 169人 年齢分布  💬 |
| 39 | 中毒性表皮壊死症 [皮] 💬 "Toxic epidermal necrolysis", "Toxic epidermal necrosis", "TEN" | 13 13 trials 5 / 8 / 2 / 1 💬 | 19 19 drugs [ 8 8 drugs ] | 11 11 genes 103 pathways | 70 (1) 約200人 (2) 70人 年齢分布  💬 |
| 51 | 全身性強皮症 [皮] 💬 "Scleroderma", "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" | 525 525 trials 274 / 260 / 151 / 63 💬 | 565 565 drugs [ 148 148 drugs ] | 114 114 genes 217 pathways | 26851 (1) 最新の患者数は不明であるが、約2万人程度と推定される。 (2) 26,851人 年齢分布  💬 |
| 52 | 混合性結合組織病 [皮] 💬 [免] 💬 "Mixed connective tissue disease" | 8 8 trials 0 / 5 / 1 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 10009 (1) 11,005人 (2) 10,009人 年齢分布  💬 |
| 160 | 先天性魚鱗癬 [皮] 💬 "Congenital ichthyosis", "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Superficial epidermolytic ichthyosis", "Harlequin ichthyosis", "Autosomal recessive congenital ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS" | 42 42 trials 25 / 21 / 11 / 5 💬 | 71 71 drugs [ 21 21 drugs ] | 18 18 genes 112 pathways | 90 (1) 約200人 (2) 90人 年齢分布  💬 |
| 161 | 家族性良性慢性天疱瘡 [皮] 💬 "Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease" | 5 5 trials 2 / 2 / 0 / 0 💬 | 9 9 drugs [ 4 4 drugs ] | 2 2 genes 24 pathways | 57 (1) 約300人 (2) 57人 年齢分布  💬 |
| 162 | 類天疱瘡（後天性表皮水疱症を含む。） [皮] 💬 "Pemphigoid", "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid" | 90 90 trials 24 / 43 / 30 / 8 💬 | 122 122 drugs [ 47 47 drugs ] | 34 34 genes 144 pathways | 3764 (1) 約7,100人（類天疱瘡：約6,850人、後天性表皮水疱症：約250人） (2) 3,764人 年齢分布  💬 |
| 163 | 特発性後天性全身性無汗症 [皮] 💬 "Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" | 0 - | 0 - | 0 - | 551 (1) 約100人〜200人 (2) 551人 年齢分布  💬 |
| 166 | 弾性線維性仮性黄色腫 [皮] 💬 "Pseudoxanthoma elasticum", "PXE" | 16 16 trials 3 / 13 / 2 / 1 💬 | 27 27 drugs [ 5 5 drugs ] | 5 5 genes 28 pathways | 109 (1) 約300人 (2) 109人 年齢分布  💬 |
| 167 | マルファン症候群 [皮] 💬 "Marfan syndrome" | 21 21 trials 15 / 6 / 12 / 4 💬 | 40 40 drugs [ 11 11 drugs ] | 10 10 genes 50 pathways | 1081 (1) 約15,000〜20,000人 (2) 1,081人 年齢分布  💬 |
| 168 | エーラス・ダンロス症候群 [皮] 💬 "Ehlers-Danlos syndrome", "EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS" | 13 13 trials 1 / 2 / 5 / 3 💬 | 21 21 drugs [ 11 11 drugs ] | 11 11 genes 103 pathways | 179 (1) 約20,000人 (2) 179人 年齢分布  💬 |
| 170 | オクシピタル・ホーン症候群 [皮] 💬 "Occipital horn syndrome" | 2 2 trials 1 / 1 / 1 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 9 9 genes 14 pathways | 1 (1) 100人未満 (2) 1人 年齢分布  💬 |