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 (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"	41 trials    | 2 / 8 / 16 / 3 💬	27 drugs   [ 8 drugs ]	7 genes   10 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"	1 trial    | 0 / 0 / 1 / 0 💬	3 drugs   [ 2 drugs ]	-	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"	19 trials    | 3 / 6 / 1 / 1 💬	28 drugs   [ 10 drugs ]	14 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"	205 trials    | 126 / 86 / 92 / 38 💬	176 drugs   [ 45 drugs ]	61 genes   127 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"	29 trials    | 0 / 0 / 10 / 8 💬	44 drugs   [ 14 drugs ]	5 genes   15 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"	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	2 genes   20 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", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "GHD", "Childhood GHD", "Childhood-onset GHD", "CGHD", "Adult GHD", "Adult-onset GHD", "AGHD", "Prolactin deficiency", "PRL deficiency"	492 trials    | 130 / 105 / 159 / 65 💬	341 drugs   [ 47 drugs ]	45 genes   100 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"	1 trial    | 1 / 0 / 0 / 0 💬	5 drugs   [ 3 drugs ]	3 genes   3 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", "Aldosterone synthase deficiency"	87 trials    | 30 / 40 / 39 / 6 💬	87 drugs   [ 23 drugs ]	12 genes   68 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"	-	-	-	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", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome"	20 trials    | 6 / 5 / 3 / 6 💬	39 drugs   [ 13 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] 💬	3 trials    | 2 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	-	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] 💬	113 trials    | 27 / 42 / 50 / 13 💬	111 drugs   [ 26 drugs ]	48 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] 💬	2 trials    | 0 / 1 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   29 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"	11 trials    | 6 / 10 / 2 / 1 💬	17 drugs   [ 8 drugs ]	12 genes   41 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"	88 trials    | 16 / 20 / 38 / 18 💬	107 drugs   [ 24 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", "PHP1a", "PHP1b", "PHP1c", "PHP2"	3 trials    | 0 / 2 / 0 / 0 💬	3 drugs   [ 2 drugs ]	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"	-	-	-	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", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO"	28 trials    | 5 / 5 / 8 / 4 💬	20 drugs   [ 9 drugs ]	3 genes   16 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 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2"	-	-	-	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] 💬 "Generalized congenital lipodystrophy", "Berardinelli-Seip syndrome", "Familial partial lipodystrophy", "Dunnigan-type familial partial lipodystrophy", "Kobbering-type familial partial lipodystrophy", "Acquired generalized lipodystrophy", "Lawrence syndrome", "Partial acquired lipodystrophy", "Barraquer-Simons syndrome"	112 trials    | 33 / 34 / 20 / 30 💬	155 drugs   [ 55 drugs ]	25 genes   97 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- -