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)
72	Pituitary ADH secretion disorder [Endo] 💬 "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" 72. Pituitary ADH secretion disorder × [Endo] Endocrine diseases	48 trials    | 2 / 11 / 16 / 3 💬 72. Pituitary ADH secretion disorder × Some trials have no Phase data.	29 drugs   [ 10 drugs ]	9 genes   18 pathways	3,934 patients Age distribution💬 72. Pituitary ADH secretion disorder × Age Num 0-9 2 10-19 19 20-29 484 30-39 553 40-49 749 50-59 847 60-69 581 70-74 269 75- 430
73	TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism" 73. TSH-secreting pituitary adenoma × [Endo] Endocrine diseases	1 trial    | 0 / 0 / 1 / 0 💬 73. TSH-secreting pituitary adenoma × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	2 genes   5 pathways	219 patients Age distribution💬 73. TSH-secreting pituitary adenoma × Age Num 0-9 - 10-19 - 20-29 11 30-39 16 40-49 44 50-59 68 60-69 37 70-74 20 75- 23
74	Prolactin secreting pituitary adenoma [Endo] 💬 "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" 74. Prolactin secreting pituitary adenoma × [Endo] Endocrine diseases	21 trials    | 3 / 7 / 1 / 2 💬 74. Prolactin secreting pituitary adenoma × Some trials have no Phase data.	31 drugs   [ 11 drugs ]	16 genes   65 pathways	2,256 patients Age distribution💬 74. Prolactin secreting pituitary adenoma × Age Num 0-9 - 10-19 18 20-29 261 30-39 444 40-49 595 50-59 453 60-69 236 70-74 100 75- 149
75	Cushing disease [Endo] 💬 "Cushing syndrome" 75. Cushing disease × [Endo] Endocrine diseases	225 trials    | 4 / 75 / 85 / 20 💬 75. Cushing disease × Some trials have no Phase data.	167 drugs   [ 49 drugs ]	65 genes   144 pathways	984 patients Age distribution💬 75. Cushing disease × Age Num 0-9 - 10-19 - 20-29 46 30-39 101 40-49 154 50-59 241 60-69 193 70-74 114 75- 135
76	Pituitary gonadotropin secretion hyperthyroidism [Endo] 💬 "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" 76. Pituitary gonadotropin secretion hyperthyroidism × [Endo] Endocrine diseases	38 trials    | 0 / 0 / 13 / 12 💬 76. Pituitary gonadotropin secretion hyperthyroidism × Some trials have no Phase data.	36 drugs   [ 13 drugs ]	6 genes   19 pathways	34 patients Age distribution💬 76. Pituitary gonadotropin secretion hyperthyroidism × Age Num 0-9 - 10-19 - 20-29 2 30-39 10 40-49 9 50-59 5 60-69 3 70-74 2 75- 3
77	Growth hormone secreting pituitary adenoma [Endo] 💬 "Pituitary growth hormone secretion hyperthyroidism", "Acromegaly" 77. Growth hormone secreting pituitary adenoma × [Endo] Endocrine diseases	351 trials    | 17 / 81 / 118 / 33 💬 77. Growth hormone secreting pituitary adenoma × Some trials have no Phase data.	241 drugs   [ 28 drugs ]	26 genes   87 pathways	4,414 patients Age distribution💬 77. Growth hormone secreting pituitary adenoma × Age Num 0-9 - 10-19 1 20-29 113 30-39 315 40-49 579 50-59 917 60-69 970 70-74 591 75- 928
78	Hypopituitarism [Endo] 💬 "Anterior pituitary hypothyroidism" 78. Hypopituitarism × [Endo] Endocrine diseases	34 trials    | 0 / 4 / 2 / 11 💬 78. Hypopituitarism × Some trials have no Phase data.	44 drugs   [ 11 drugs ]	10 genes   19 pathways	20,336 patients Age distribution💬 78. Hypopituitarism × Age Num 0-9 8 10-19 509 20-29 1,959 30-39 2,182 40-49 3,196 50-59 3,901 60-69 3,465 70-74 1,922 75- 3,194
80	Resistance to thyroid hormone [Endo] 💬 "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" 80. Resistance to thyroid hormone × [Endo] Endocrine diseases	1 trial    | 1 / 0 / 0 / 0 💬 80. Resistance to thyroid hormone × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	3 genes   4 pathways	49 patients Age distribution💬 80. Resistance to thyroid hormone × Age Num 0-9 - 10-19 1 20-29 6 30-39 6 40-49 10 50-59 15 60-69 4 70-74 6 75- 1
81	Congenital adrenal hyperplasia [Endo] 💬 "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency" 81. Congenital adrenal hyperplasia × [Endo] Endocrine diseases	102 trials    | 11 / 46 / 42 / 3 💬 81. Congenital adrenal hyperplasia × Some trials have no Phase data.	72 drugs   [ 18 drugs ]	14 genes   71 pathways	1,080 patients Age distribution💬 81. Congenital adrenal hyperplasia × Age Num 0-9 2 10-19 15 20-29 483 30-39 270 40-49 206 50-59 74 60-69 26 70-74 - 75- 4
82	Congenital adrenal hypoplasia [Endo] 💬 "X-linked congenital adrenal hypoplasia", "DAX-1 deficiency", "Congenital adrenal hypoplasia, autosomal recessive form", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" 82. Congenital adrenal hypoplasia × [Endo] Endocrine diseases	-	-	-	55 patients Age distribution💬 82. Congenital adrenal hypoplasia × Age Num 0-9 - 10-19 - 20-29 34 30-39 11 40-49 7 50-59 3 60-69 - 70-74 - 75- -
83	Addison disease [Endo] 💬 "Primary chronic adrenocortical insufficiency" 83. Addison disease × [Endo] Endocrine diseases	21 trials    | 0 / 5 / 2 / 5 💬 83. Addison disease × Some trials have no Phase data.	29 drugs   [ 9 drugs ]	6 genes   18 pathways	377 patients Age distribution💬 83. Addison disease × Age Num 0-9 - 10-19 1 20-29 20 30-39 15 40-49 50 50-59 64 60-69 79 70-74 55 75- 93
191	Werner syndrome [Endo] 💬 191. Werner syndrome × [Endo] Endocrine diseases	4 trials    | 2 / 2 / 0 / 0 💬 191. Werner syndrome × Some trials have no Phase data.	3 drugs   [ 4 drugs ]	1 gene   6 pathways	94 patients Age distribution💬 191. Werner syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 18 50-59 52 60-69 20 70-74 - 75- -
193	Prader-Willi syndrome [Endo] 💬 193. Prader-Willi syndrome × [Endo] Endocrine diseases	128 trials    | 7 / 47 / 54 / 10 💬 193. Prader-Willi syndrome × Some trials have no Phase data.	94 drugs   [ 25 drugs ]	51 genes   102 pathways	191 patients Age distribution💬 193. Prader-Willi syndrome × Age Num 0-9 1 10-19 10 20-29 68 30-39 65 40-49 37 50-59 9 60-69 1 70-74 - 75- -
232	Carney complex [Endo] 💬 "CNC" 232. Carney complex × [Endo] Endocrine diseases	2 trials    | 0 / 1 / 0 / 0 💬 232. Carney complex × Some trials have no Phase data.	4 drugs   [ 1 drug ]	1 gene   28 pathways	24 patients Age distribution💬 232. Carney complex × Age Num 0-9 - 10-19 - 20-29 7 30-39 5 40-49 1 50-59 7 60-69 3 70-74 - 75- 1
233	Wolfram syndrome [Endo] 💬 "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" 233. Wolfram syndrome × [Endo] Endocrine diseases	12 trials    | 1 / 11 / 1 / 0 💬 233. Wolfram syndrome × Some trials have no Phase data.	14 drugs   [ 6 drugs ]	3 genes   6 pathways	16 patients Age distribution💬 233. Wolfram syndrome × Age Num 0-9 - 10-19 3 20-29 4 30-39 2 40-49 2 50-59 4 60-69 - 70-74 1 75- -
235	Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease" 235. Hypoparathyroidism × [Endo] Endocrine diseases	100 trials    | 10 / 24 / 38 / 18 💬 235. Hypoparathyroidism × Some trials have no Phase data.	103 drugs   [ 27 drugs ]	5 genes   7 pathways	330 patients Age distribution💬 235. Hypoparathyroidism × Age Num 0-9 1 10-19 5 20-29 55 30-39 59 40-49 64 50-59 73 60-69 43 70-74 17 75- 13
236	Pseudohypoparathyroidism [Endo] 💬 "PHP" 236. Pseudohypoparathyroidism × [Endo] Endocrine diseases	5 trials    | 0 / 4 / 0 / 0 💬 236. Pseudohypoparathyroidism × Some trials have no Phase data.	3 drugs   [ 1 drug ]	18 genes   23 pathways	129 patients Age distribution💬 236. Pseudohypoparathyroidism × Age Num 0-9 - 10-19 1 20-29 66 30-39 20 40-49 20 50-59 11 60-69 5 70-74 3 75- 3
237	ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" 237. ACTH unresponsiveness × [Endo] Endocrine diseases	-	-	-	17 patients Age distribution💬 237. ACTH unresponsiveness × Age Num 0-9 - 10-19 - 20-29 6 30-39 4 40-49 5 50-59 1 60-69 - 70-74 - 75- 1
238	Vitamin D-resistant rickets [Endo] 💬 "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Vitamin D-resistant rickets", "VDRR", "Hypophosphatemic rickets", "Vitamin D-resistant osteomalacia", "VDRO", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" 238. Vitamin D-resistant rickets × [Endo] Endocrine diseases	32 trials    | 6 / 7 / 8 / 4 💬 238. Vitamin D-resistant rickets × Some trials have no Phase data.	20 drugs   [ 11 drugs ]	5 genes   23 pathways	510 patients Age distribution💬 238. Vitamin D-resistant rickets × Age Num 0-9 - 10-19 10 20-29 101 30-39 68 40-49 85 50-59 107 60-69 73 70-74 27 75- 39
239	Vitamin D-dependent rickets [Endo] 💬 "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1A", "VDDR1A", "Vitamin D-dependent rickets type 2", "VDDR2", "Vitamin D-dependent rickets type 1B", "VDDR1B", "Vitamin D-dependent rickets type 3", "VDDR3" 239. Vitamin D-dependent rickets × [Endo] Endocrine diseases	-	-	-	7 patients Age distribution💬 239. Vitamin D-dependent rickets × Age Num 0-9 - 10-19 - 20-29 2 30-39 2 40-49 - 50-59 3 60-69 - 70-74 - 75- -
265	Lipodystrophy [Endo] 💬 265. Lipodystrophy × [Endo] Endocrine diseases	127 trials    | 7 / 32 / 24 / 27 💬 265. Lipodystrophy × Some trials have no Phase data.	137 drugs   [ 58 drugs ]	28 genes   99 pathways	37 patients Age distribution💬 265. Lipodystrophy × Age Num 0-9 - 10-19 - 20-29 11 30-39 10 40-49 10 50-59 3 60-69 3 70-74 - 75- -