Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 39,610 / Drugs : 18,765 - ( DrugBank : 2,435 ) / Drug target genes : 703 - Drug target pathways : 305

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2023)
34	Neurofibromatosis [Skin] 💬 "Neurofibromatosis type 1", "NF1", "Recklinghausen disease", "Neurofibromatosis type 2", "NF2" 34. Neurofibromatosis × [Skin] Skin and connective tissue diseases	165 trials    | 46 / 102 / 13 / 6 💬 34. Neurofibromatosis × Some trials have no Phase data.	189 drugs   [ 83 drugs ]	93 genes   209 pathways	4,167 patients Age distribution💬 34. Neurofibromatosis × Age Num 0-9 3 10-19 140 20-29 510 30-39 574 40-49 846 50-59 870 60-69 654 70-74 255 75- 315
35	Pemphigus [Skin] 💬 35. Pemphigus × [Skin] Skin and connective tissue diseases	120 trials    | 10 / 32 / 50 / 6 💬 35. Pemphigus × Some trials have no Phase data.	109 drugs   [ 40 drugs ]	28 genes   167 pathways	3,186 patients Age distribution💬 35. Pemphigus × Age Num 0-9 - 10-19 5 20-29 27 30-39 121 40-49 361 50-59 701 60-69 759 70-74 437 75- 775
36	Epidermolysis bullosa [Skin] 💬 "Kindler syndrome" 36. Epidermolysis bullosa × [Skin] Skin and connective tissue diseases	183 trials    | 51 / 104 / 52 / 2 💬 36. Epidermolysis bullosa × Some trials have no Phase data.	159 drugs   [ 51 drugs ]	69 genes   147 pathways	289 patients Age distribution💬 36. Epidermolysis bullosa × Age Num 0-9 2 10-19 21 20-29 49 30-39 43 40-49 52 50-59 51 60-69 39 70-74 18 75- 14
37	Generalised pustular psoriasis [Skin] 💬 "GPP", "Pustular psoriasis", "Herpetic impetigo" 37. Generalised pustular psoriasis × [Skin] Skin and connective tissue diseases	93 trials    | 3 / 30 / 44 / 5 💬 37. Generalised pustular psoriasis × Some trials have no Phase data.	50 drugs   [ 21 drugs ]	21 genes   99 pathways	2,235 patients Age distribution💬 37. Generalised pustular psoriasis × Age Num 0-9 1 10-19 8 20-29 62 30-39 151 40-49 351 50-59 524 60-69 456 70-74 263 75- 419
38	Stevens-Johnson syndrome [Skin] 💬 "SJS", "Mucocutaneous ocular syndrome" 38. Stevens-Johnson syndrome × [Skin] Skin and connective tissue diseases	19 trials    | 7 / 10 / 3 / 2 💬 38. Stevens-Johnson syndrome × Some trials have no Phase data.	25 drugs   [ 10 drugs ]	14 genes   98 pathways	185 patients Age distribution💬 38. Stevens-Johnson syndrome × Age Num 0-9 - 10-19 3 20-29 12 30-39 23 40-49 31 50-59 38 60-69 26 70-74 15 75- 37
39	Toxic epidermal necrolysis [Skin] 💬 "Toxic epidermal necrosis", "TEN" 39. Toxic epidermal necrolysis × [Skin] Skin and connective tissue diseases	15 trials    | 2 / 3 / 0 / 1 💬 39. Toxic epidermal necrolysis × Some trials have no Phase data.	16 drugs   [ 9 drugs ]	10 genes   99 pathways	78 patients Age distribution💬 39. Toxic epidermal necrolysis × Age Num 0-9 - 10-19 1 20-29 10 30-39 8 40-49 11 50-59 14 60-69 21 70-74 3 75- 10
159	Xeroderma pigmentosum [Skin] 💬 "XP" 159. Xeroderma pigmentosum × [Skin] Skin and connective tissue diseases	11 trials    | 1 / 8 / 1 / 0 💬 159. Xeroderma pigmentosum × Some trials have no Phase data.	11 drugs   [ 5 drugs ]	5 genes   16 pathways	87 patients Age distribution💬 159. Xeroderma pigmentosum × Age Num 0-9 1 10-19 1 20-29 32 30-39 13 40-49 7 50-59 3 60-69 9 70-74 10 75- 11
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", "KID 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" 160. Congenital ichthyosis × [Skin] Skin and connective tissue diseases	57 trials    | 16 / 25 / 13 / 2 💬 160. Congenital ichthyosis × Some trials have no Phase data.	68 drugs   [ 25 drugs ]	21 genes   141 pathways	100 patients Age distribution💬 160. Congenital ichthyosis × Age Num 0-9 - 10-19 1 20-29 32 30-39 18 40-49 12 50-59 23 60-69 8 70-74 4 75- 2
161	Familial benign chronic pemphigus [Skin] 💬 "Benign familial pemphigus", "Hailey-Hailey disease" 161. Familial benign chronic pemphigus × [Skin] Skin and connective tissue diseases	6 trials    | 2 / 3 / 0 / 0 💬 161. Familial benign chronic pemphigus × Some trials have no Phase data.	6 drugs   [ 3 drugs ]	2 genes   29 pathways	79 patients Age distribution💬 161. Familial benign chronic pemphigus × Age Num 0-9 - 10-19 - 20-29 - 30-39 4 40-49 13 50-59 26 60-69 19 70-74 3 75- 14
162	Pemphigoid [Skin] 💬 162. Pemphigoid × [Skin] Skin and connective tissue diseases	128 trials    | 3 / 43 / 45 / 9 💬 162. Pemphigoid × Some trials have no Phase data.	108 drugs   [ 49 drugs ]	35 genes   143 pathways	4,086 patients Age distribution💬 162. Pemphigoid × Age Num 0-9 1 10-19 3 20-29 7 30-39 31 40-49 129 50-59 420 60-69 741 70-74 663 75- 2,091
163	Idiopathic pure sudomotor failure [Skin] 💬 "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "Idiopathic pure sudomotor failure", "IPSF", "Sweat gland failure" 163. Idiopathic pure sudomotor failure × [Skin] Skin and connective tissue diseases	-	-	-	655 patients Age distribution💬 163. Idiopathic pure sudomotor failure × Age Num 0-9 1 10-19 73 20-29 160 30-39 149 40-49 129 50-59 99 60-69 30 70-74 6 75- 8
166	Pseudoxanthoma elasticum [Skin] 💬 "PXE" 166. Pseudoxanthoma elasticum × [Skin] Skin and connective tissue diseases	19 trials    | 4 / 14 / 3 / 1 💬 166. Pseudoxanthoma elasticum × Some trials have no Phase data.	21 drugs   [ 7 drugs ]	5 genes   26 pathways	143 patients Age distribution💬 166. Pseudoxanthoma elasticum × Age Num 0-9 - 10-19 - 20-29 3 30-39 3 40-49 5 50-59 31 60-69 53 70-74 29 75- 19