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)
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	3,869 patients Age distribution💬
73	TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism"	1 trial    | 0 / 0 / 1 / 0 💬	3 drugs   [ 2 drugs ]	-	200 patients Age distribution💬
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	2,206 patients Age distribution💬
75	Cushing disease [Endo] 💬 "Cushing"	205 trials    | 126 / 86 / 92 / 38 💬	176 drugs   [ 45 drugs ]	61 genes   127 pathways	960 patients Age distribution💬
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	37 patients Age distribution💬
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	4,348 patients Age distribution💬
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	19,693 patients Age distribution💬
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	46 patients Age distribution💬
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	1,014 patients Age distribution💬
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💬
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	346 patients Age distribution💬
191	Werner syndrome [Endo] 💬	3 trials    | 2 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	-	100 patients Age distribution💬
193	Prader-Willi syndrome [Endo] 💬	113 trials    | 27 / 42 / 50 / 13 💬	111 drugs   [ 26 drugs ]	48 genes   102 pathways	175 patients Age distribution💬
232	Carney complex [Endo] 💬	2 trials    | 0 / 1 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   29 pathways	25 patients Age distribution💬
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	14 patients Age distribution💬
235	Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease"	88 trials    | 16 / 20 / 38 / 18 💬	107 drugs   [ 24 drugs ]	5 genes   7 pathways	311 patients Age distribution💬
236	Pseudohypoparathyroidism [Endo] 💬 "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"	3 trials    | 0 / 2 / 0 / 0 💬	3 drugs   [ 2 drugs ]	18 genes   23 pathways	119 patients Age distribution💬
237	ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"	-	-	-	16 patients Age distribution💬
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	462 patients Age distribution💬
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"	-	-	-	5 patients Age distribution💬
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	35 patients Age distribution💬