Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 43,690 / Drugs : 27,527 - ( DrugBank : 2,441 ) / Drug target genes : 714 - Drug target pathways : 315

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients, FY2024 (corrected)
72	Pituitary ADH secretion disorder [Endo] 💬 "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Disorders of antidiuretic hormone (ADH) secretion", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" 72. Pituitary ADH secretion disorder × [Endo] Endocrine diseases	49 trials    | 2 / 11 / 16 / 3 💬 72. Pituitary ADH secretion disorder × Some trials have no Phase data.	39 drugs   [ 10 drugs ]	6 genes   10 pathways	3,997 patients Age distribution💬 72. Pituitary ADH secretion disorder × Age Num 0-9 2 10-19 19 20-29 472 30-39 562 40-49 746 50-59 886 60-69 609 70-74 255 75- 446
73	TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism", "Pituitary TSH hypersecretion" 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	237 patients Age distribution💬 73. TSH-secreting pituitary adenoma × Age Num 0-9 - 10-19 1 20-29 9 30-39 17 40-49 42 50-59 71 60-69 42 70-74 22 75- 33
74	Prolactin secreting pituitary adenoma [Endo] 💬 "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma", "Hyperprolactinemia" 74. Prolactin secreting pituitary adenoma × [Endo] Endocrine diseases	55 trials    | 6 / 11 / 4 / 9 💬 74. Prolactin secreting pituitary adenoma × Some trials have no Phase data.	76 drugs   [ 19 drugs ]	17 genes   83 pathways	2,196 patients Age distribution💬 74. Prolactin secreting pituitary adenoma × Age Num 0-9 - 10-19 23 20-29 244 30-39 434 40-49 559 50-59 467 60-69 233 70-74 85 75- 151
75	Cushing disease [Endo] 💬 "Cushing syndrome" 75. Cushing disease × [Endo] Endocrine diseases	231 trials    | 5 / 76 / 85 / 22 💬 75. Cushing disease × Some trials have no Phase data.	224 drugs   [ 47 drugs ]	63 genes   145 pathways	999 patients Age distribution💬 75. Cushing disease × Age Num 0-9 - 10-19 1 20-29 47 30-39 89 40-49 162 50-59 248 60-69 200 70-74 96 75- 156
76	Pituitary gonadotropin secretion hyperthyroidism [Endo] 💬 "Gonadotropin secreting pituitary adenoma", "Abnormal pituitary gonadotropin secretion", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" 76. Pituitary gonadotropin secretion hyperthyroidism × [Endo] Endocrine diseases	41 trials    | 0 / 0 / 13 / 12 💬 76. Pituitary gonadotropin secretion hyperthyroidism × Some trials have no Phase data.	46 drugs   [ 11 drugs ]	5 genes   15 pathways	28 patients Age distribution💬 76. Pituitary gonadotropin secretion hyperthyroidism × Age Num 0-9 - 10-19 - 20-29 - 30-39 6 40-49 8 50-59 4 60-69 5 70-74 2 75- 3
77	Growth hormone secreting pituitary adenoma [Endo] 💬 "Excessive secretion of growth hormone", "Pituitary growth hormone secretion hyperthyroidism", "Acromegaly" 77. Growth hormone secreting pituitary adenoma × [Endo] Endocrine diseases	360 trials    | 18 / 83 / 119 / 35 💬 77. Growth hormone secreting pituitary adenoma × Some trials have no Phase data.	313 drugs   [ 26 drugs ]	26 genes   87 pathways	4,389 patients Age distribution💬 77. Growth hormone secreting pituitary adenoma × Age Num 0-9 - 10-19 2 20-29 112 30-39 307 40-49 576 50-59 921 60-69 928 70-74 565 75- 978
78	Hypopituitarism [Endo] 💬 "Anterior pituitary hypothyroidism", "PRL deficiency" 78. Hypopituitarism × [Endo] Endocrine diseases	35 trials    | 0 / 4 / 2 / 11 💬 78. Hypopituitarism × Some trials have no Phase data.	59 drugs   [ 11 drugs ]	13 genes   42 pathways	19,920 patients Age distribution💬 78. Hypopituitarism × Age Num 0-9 7 10-19 410 20-29 1,909 30-39 2,105 40-49 3,025 50-59 3,889 60-69 3,508 70-74 1,806 75- 3,261
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   [ 2 drugs ]	2 genes   3 pathways	50 patients Age distribution💬 80. Resistance to thyroid hormone × Age Num 0-9 - 10-19 - 20-29 5 30-39 4 40-49 11 50-59 12 60-69 10 70-74 7 75- 1
81	Congenital adrenal hyperplasia [Endo] 💬 "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Aldosterone synthase 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	107 trials    | 11 / 50 / 45 / 3 💬 81. Congenital adrenal hyperplasia × Some trials have no Phase data.	101 drugs   [ 24 drugs ]	14 genes   71 pathways	1,113 patients Age distribution💬 81. Congenital adrenal hyperplasia × Age Num 0-9 3 10-19 13 20-29 482 30-39 274 40-49 226 50-59 84 60-69 24 70-74 4 75- 3
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	-	-	-	61 patients Age distribution💬 82. Congenital adrenal hypoplasia × Age Num 0-9 - 10-19 2 20-29 38 30-39 12 40-49 6 50-59 3 60-69 - 70-74 - 75- -
83	Addison disease [Endo] 💬 "Primary chronic adrenocortical insufficiency" 83. Addison disease × [Endo] Endocrine diseases	23 trials    | 0 / 5 / 2 / 5 💬 83. Addison disease × Some trials have no Phase data.	42 drugs   [ 11 drugs ]	3 genes   7 pathways	398 patients Age distribution💬 83. Addison disease × Age Num 0-9 - 10-19 1 20-29 18 30-39 19 40-49 51 50-59 72 60-69 77 70-74 56 75- 104
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.	4 drugs   [ 3 drugs ]	-	89 patients Age distribution💬 191. Werner syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 16 50-59 53 60-69 15 70-74 1 75- -
193	Prader-Willi syndrome [Endo] 💬 193. Prader-Willi syndrome × [Endo] Endocrine diseases	140 trials    | 8 / 50 / 58 / 10 💬 193. Prader-Willi syndrome × Some trials have no Phase data.	137 drugs   [ 26 drugs ]	51 genes   64 pathways	238 patients Age distribution💬 193. Prader-Willi syndrome × Age Num 0-9 1 10-19 20 20-29 89 30-39 68 40-49 46 50-59 12 60-69 2 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   30 pathways	26 patients Age distribution💬 232. Carney complex × Age Num 0-9 - 10-19 - 20-29 7 30-39 7 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.	19 drugs   [ 7 drugs ]	5 genes   26 pathways	16 patients Age distribution💬 233. Wolfram syndrome × Age Num 0-9 - 10-19 2 20-29 3 30-39 2 40-49 3 50-59 4 60-69 1 70-74 1 75- -
235	Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease" 235. Hypoparathyroidism × [Endo] Endocrine diseases	120 trials    | 11 / 28 / 42 / 19 💬 235. Hypoparathyroidism × Some trials have no Phase data.	167 drugs   [ 31 drugs ]	5 genes   7 pathways	352 patients Age distribution💬 235. Hypoparathyroidism × Age Num 0-9 1 10-19 1 20-29 64 30-39 55 40-49 70 50-59 75 60-69 52 70-74 14 75- 20
236	Pseudohypoparathyroidism [Endo] 💬 "PHP" 236. Pseudohypoparathyroidism × [Endo] Endocrine diseases	6 trials    | 0 / 5 / 0 / 0 💬 236. Pseudohypoparathyroidism × Some trials have no Phase data.	5 drugs   [ 3 drugs ]	20 genes   28 pathways	133 patients Age distribution💬 236. Pseudohypoparathyroidism × Age Num 0-9 - 10-19 1 20-29 69 30-39 21 40-49 19 50-59 12 60-69 5 70-74 3 75- 3
237	ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome", "Familial glucocorticoid deficiency", "FGD" 237. ACTH unresponsiveness × [Endo] Endocrine diseases	-	-	-	20 patients Age distribution💬 237. ACTH unresponsiveness × Age Num 0-9 - 10-19 - 20-29 8 30-39 6 40-49 4 50-59 2 60-69 - 70-74 - 75- -
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	34 trials    | 6 / 7 / 8 / 4 💬 238. Vitamin D-resistant rickets × Some trials have no Phase data.	26 drugs   [ 11 drugs ]	3 genes   16 pathways	624 patients Age distribution💬 238. Vitamin D-resistant rickets × Age Num 0-9 - 10-19 6 20-29 118 30-39 74 40-49 91 50-59 144 60-69 98 70-74 34 75- 59
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	-	-	-	6 patients Age distribution💬 239. Vitamin D-dependent rickets × Age Num 0-9 - 10-19 - 20-29 2 30-39 2 40-49 - 50-59 1 60-69 1 70-74 - 75- -
265	Lipodystrophy [Endo] 💬 265. Lipodystrophy × [Endo] Endocrine diseases	133 trials    | 7 / 33 / 25 / 27 💬 265. Lipodystrophy × Some trials have no Phase data.	176 drugs   [ 58 drugs ]	30 genes   102 pathways	45 patients Age distribution💬 265. Lipodystrophy × Age Num 0-9 - 10-19 - 20-29 12 30-39 13 40-49 10 50-59 7 60-69 3 70-74 - 75- -