Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297
Disease group: Skin and connective tissue diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 34 | Neurofibromatosis [Skin] 💬 "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 patients (2) 4,056 patients Age distribution  💬 |
| 35 | Pemphigus [Skin] 💬 "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) About 6,000 patients (2) 3,236 patients Age distribution  💬 |
| 36 | Epidermolysis bullosa [Skin] 💬 "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 patients (2) 290 patients Age distribution  💬 |
| 37 | Generalised pustular psoriasis [Skin] 💬 "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 patients (2) 2,070 patients Age distribution  💬 |
| 38 | Stevens-Johnson syndrome [Skin] 💬 "SJS", "Mucocutaneous ocular syndrome" | 17 17 trials 11 / 11 / 4 / 2 💬 | 29 29 drugs [ 9 9 drugs ] | 15 15 genes 101 pathways | 169 (1) About 1,500 patients (2) 169 patients Age distribution  💬 |
| 39 | Toxic epidermal necrolysis [Skin] 💬 "Toxic epidermal necrosis", "TEN" | 13 13 trials 5 / 8 / 2 / 1 💬 | 19 19 drugs [ 8 8 drugs ] | 11 11 genes 103 pathways | 70 (1) About 200 patients (2) 70 patients Age distribution  💬 |
| 51 | Scleroderma [Skin] 💬 "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) About 20,000 patients estimated though the latest number of patients unknown (2) 26,851 patients Age distribution  💬 |
| 52 | Mixed connective tissue disease [Skin] 💬 [Imm] 💬 | 8 8 trials 0 / 5 / 1 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 10009 (1) 11,005 patients (2) 10,009 patients Age distribution  💬 |
| 160 | Congenital ichthyosis [Skin] 💬 "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) About 200 patients (2) 90 patients Age distribution  💬 |
| 161 | Familial benign chronic pemphigus [Skin] 💬 "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) About 300 patients (2) 57 patients Age distribution  💬 |
| 162 | Pemphigoid [Skin] 💬 "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) About 7,100 patients (Pemphigoid: About 6,850 patients、Epidermolysis bullosa acquisita: About 250 patients) (2) 3,764 patients Age distribution  💬 |
| 163 | Idiopathic pure sudomotor failure [Skin] 💬 "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" | 0 - | 0 - | 0 - | 551 (1) About 100 patients~200 patients (2) 551 patients Age distribution  💬 |
| 166 | Pseudoxanthoma elasticum [Skin] 💬 "PXE" | 16 16 trials 3 / 13 / 2 / 1 💬 | 27 27 drugs [ 5 5 drugs ] | 5 5 genes 28 pathways | 109 (1) About 300 patients (2) 109 patients Age distribution  💬 |
| 167 | Marfan syndrome [Skin] 💬 | 21 21 trials 15 / 6 / 12 / 4 💬 | 40 40 drugs [ 11 11 drugs ] | 10 10 genes 50 pathways | 1081 (1) About 15,000~20,000 patients (2) 1,081 patients Age distribution  💬 |
| 168 | Ehlers-Danlos syndrome [Skin] 💬 "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) About 20,000 patients (2) 179 patients Age distribution  💬 |
| 170 | Occipital horn syndrome [Skin] 💬 | 2 2 trials 1 / 1 / 1 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 9 9 genes 14 pathways | 1 (1) Less than 100 patients (2) 1 patient Age distribution  💬 |