Disease 指定難病
疾患数 : 338 - 臨床試験総数 : 33,695 / 薬物総数 : 21,458 - ( DrugBank : 2,156 ) / 標的遺伝子総数 : 606 - 標的パスウェイ総数 : 291
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 (2020年度) |
|---|---|---|---|---|---|
| 34 | 神経線維腫症 [皮] 💬 "Neurofibromatosis", "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2" | 137 137 trials 56 / 88 / 14 / 8 💬 | 214 214 drugs [ 76 76 drugs ] | 87 87 genes 200 pathways | 4218 (1) 3,588人 (2) 4,218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" | 98 98 trials 44 / 36 / 47 / 7 💬 | 130 130 drugs [ 41 41 drugs ] | 22 22 genes 167 pathways | 3515 (1) 約6,000人 (2) 3,515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", "Recessive dystrophic epidermolysis bullosa", "RDEB", "Kindler syndrome" | 160 160 trials 114 / 95 / 53 / 16 💬 | 196 196 drugs [ 47 47 drugs ] | 49 49 genes 123 pathways | 309 (1) 347人 (2) 309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" | 74 74 trials 31 / 30 / 38 / 9 💬 | 55 55 drugs [ 20 20 drugs ] | 20 20 genes 101 pathways | 2058 (1) 2,072人 (2) 2,058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" | 13 13 trials 10 / 9 / 4 / 2 💬 | 23 23 drugs [ 9 9 drugs ] | 15 15 genes 101 pathways | 219 (1) 約1,500人 (2) 219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 | 68 (1) 約200人 (2) 68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" | 523 523 trials 282 / 255 / 152 / 66 💬 | 617 617 drugs [ 156 156 drugs ] | 113 113 genes 214 pathways | 27647 (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) 27,647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 | 10182 (1) 11,005人 (2) 10,182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" | 36 36 trials 20 / 17 / 11 / 5 💬 | 72 72 drugs [ 21 21 drugs ] | 18 18 genes 111 pathways | 80 (1) 約200人 (2) 80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 | 60 (1) 約300人 (2) 60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" | 83 83 trials 24 / 37 / 24 / 8 💬 | 129 129 drugs [ 51 51 drugs ] | 33 33 genes 142 pathways | 3965 (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) 3,965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 - | 433 (1) 約100人〜200人 (2) 433人 年齢分布  💬 |
| 166 | 弾性線維性仮性黄色腫 [皮] 💬 "Pseudoxanthoma elasticum", "PXE" | 15 15 trials 3 / 13 / 2 / 1 💬 | 27 27 drugs [ 5 5 drugs ] | 5 5 genes 28 pathways | 101 (1) 約300人 (2) 101人 年齢分布  💬 |
| 167 | マルファン症候群 [皮] 💬 "Marfan syndrome" | 20 20 trials 15 / 6 / 12 / 4 💬 | 39 39 drugs [ 10 10 drugs ] | 10 10 genes 50 pathways | 1003 (1) 約15,000〜20,000人 (2) 1,003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" | 8 8 trials 0 / 1 / 2 / 2 💬 | 17 17 drugs [ 9 9 drugs ] | 9 9 genes 55 pathways | 165 (1) 約20,000人 (2) 165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  💬 |