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) |
|---|---|---|---|---|---|
| 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 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 | 3176 3,176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 | 291 291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 | 2132 2,132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 | 171 171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 | 71 71人年齢分布  💬 |
| 159 | 色素性乾皮症 [皮] 💬 "Xeroderma pigmentosum", "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V" | 11 11 trials | 1 / 8 / 1 / 0 💬 | 17 17 drugs [ 5 5 drugs ] | 5 5 genes | 15 pathways | 82 82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 | 100 100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 | 63 63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 | 3850 3,850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 - | 636 636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 | 132 132人年齢分布  💬 |