Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 33,695 / Drugs : 21,110 - ( DrugBank : 2,155 ) / Drug target genes : 623 - Drug target pathways : 291
Disease group: Endocrine diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 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" | 40 40 trials 2 / 8 / 15 / 3 💬 | 28 28 drugs [ 7 7 drugs ] | 5 5 genes 9 pathways | 3701 (1) [Disease ID 72-78 total] 17,069 patients (2) 3,701 patients Age distribution  💬 |
| 73 | TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism" | 1 1 trial 0 / 0 / 1 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 173 (1) [Disease ID 72-78 total] 17,069 patients (2) 173 patients Age distribution  💬 |
| 74 | Prolactin secreting pituitary adenoma [Endo] 💬 "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" | 18 18 trials 3 / 6 / 1 / 1 💬 | 33 33 drugs [ 10 10 drugs ] | 16 16 genes 65 pathways | 2177 (1) [Disease ID 72-78 total] 17,069 patients (2) 2,177 patients Age distribution  💬 |
| 75 | Cushing disease [Endo] 💬 "Cushing" | 203 203 trials 130 / 82 / 89 / 40 💬 | 191 191 drugs [ 51 51 drugs ] | 62 62 genes 128 pathways | 911 (1) [Disease ID 72-78 total] 17,069 patients (2) 911 patients Age distribution  💬 |
| 76 | Pituitary gonadotropin secretion hyperthyroidism [Endo] 💬 "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 28 28 trials 0 / 0 / 11 / 7 💬 | 46 46 drugs [ 14 14 drugs ] | 6 6 genes 19 pathways | 36 (1) [Disease ID 72-78 total] 17,069 patients (2) 36 patients Age distribution  💬 |
| 77 | Growth hormone secreting pituitary adenoma [Endo] 💬 "Pituitary growth hormone secretion hyperthyroidism" | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 20 pathways | 4388 (1) [Disease ID 72-78 total] 17,069 patients (2) 4,388 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" | 494 494 trials 140 / 108 / 157 / 67 💬 | 385 385 drugs [ 49 49 drugs ] | 44 44 genes 100 pathways | 19006 (1) [Disease ID 72-78 total] 17,069 patients (2) 19,006 patients Age distribution  💬 |
| 80 | Resistance to thyroid hormone [Endo] 💬 "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" | 1 1 trial 1 / 0 / 0 / 0 💬 | 6 6 drugs [ 3 3 drugs ] | 3 3 genes 3 pathways | 45 (1) About 3,000 patients (By the research group) (2) 45 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" | 88 88 trials 30 / 41 / 38 / 6 💬 | 90 90 drugs [ 23 23 drugs ] | 12 12 genes 68 pathways | 945 (1) About 1,800 patients (2) 945 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" | 0 - | 0 - | 0 - | 52 (1) About 1,000 patients (2) 52 patients Age distribution  💬 |
| 83 | Addison disease [Endo] 💬 "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome" | 20 20 trials 6 / 4 / 3 / 5 💬 | 43 43 drugs [ 13 13 drugs ] | 6 6 genes 18 pathways | 327 (1) About 1,000 patients (By the research group) (2) 327 patients Age distribution  💬 |
| 233 | Wolfram syndrome [Endo] 💬 "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 9 9 trials 6 / 8 / 2 / 1 💬 | 15 15 drugs [ 7 7 drugs ] | 11 11 genes 41 pathways | 12 (1) About 200 patients (2) 12 patients Age distribution  💬 |
| 235 | Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease" | 88 88 trials 21 / 20 / 36 / 17 💬 | 128 128 drugs [ 25 25 drugs ] | 5 5 genes 7 pathways | 302 (1) About 900 patients (2) 302 patients Age distribution  💬 |
| 236 | Pseudohypoparathyroidism [Endo] 💬 "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2" | 6 6 trials 0 / 4 / 0 / 1 💬 | 4 4 drugs [ 2 2 drugs ] | 20 20 genes 28 pathways | 116 (1) About 400 patients (2) 116 patients Age distribution  💬 |
| 237 | ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" | 0 - | 0 - | 0 - | 14 (1) Less than 100 patients (2) 14 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" | 0 - | 0 - | 0 - | 5 (1) Less than 100 patients (2) 5 patients Age distribution  💬 |