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

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2022)
34	Neurofibromatosis [Skin] 💬 "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2"	133 trials    | 54 / 85 / 15 / 8 💬	186 drugs   [ 67 drugs ]	79 genes   190 pathways	4,056 patients Age distribution💬
35	Pemphigus [Skin] 💬 "Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP"	99 trials    | 44 / 36 / 49 / 7 💬	124 drugs   [ 36 drugs ]	23 genes   169 pathways	3,176 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 trials    | 117 / 99 / 53 / 16 💬	185 drugs   [ 46 drugs ]	50 genes   125 pathways	291 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 trials    | 27 / 30 / 39 / 8 💬	57 drugs   [ 21 drugs ]	20 genes   102 pathways	2,132 patients Age distribution💬
38	Stevens-Johnson syndrome [Skin] 💬 "SJS", "Mucocutaneous ocular syndrome"	17 trials    | 11 / 11 / 4 / 2 💬	29 drugs   [ 9 drugs ]	15 genes   101 pathways	171 patients Age distribution💬
39	Toxic epidermal necrolysis [Skin] 💬 "Toxic epidermal necrosis", "TEN"	13 trials    | 5 / 8 / 2 / 1 💬	19 drugs   [ 8 drugs ]	11 genes   103 pathways	71 patients Age distribution💬
159	Xeroderma pigmentosum [Skin] 💬 "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V"	11 trials    | 1 / 8 / 1 / 0 💬	17 drugs   [ 5 drugs ]	5 genes   15 pathways	82 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 trials    | 25 / 21 / 11 / 5 💬	71 drugs   [ 21 drugs ]	18 genes   112 pathways	100 patients Age distribution💬
161	Familial benign chronic pemphigus [Skin] 💬 "Benign familial pemphigus", "Hailey-Hailey disease"	5 trials    | 2 / 2 / 0 / 0 💬	9 drugs   [ 4 drugs ]	2 genes   24 pathways	63 patients Age distribution💬
162	Pemphigoid [Skin] 💬 "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid"	90 trials    | 24 / 43 / 30 / 8 💬	122 drugs   [ 47 drugs ]	34 genes   144 pathways	3,850 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"	-	-	-	636 patients Age distribution💬
166	Pseudoxanthoma elasticum [Skin] 💬 "PXE"	16 trials    | 3 / 13 / 2 / 1 💬	27 drugs   [ 5 drugs ]	5 genes   28 pathways	132 patients Age distribution💬