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

  
Disease group: Chromosomal and gene abnormalities  
ID Disease name [Group] Clinical trial
Phase 1 / 2 / 3 / 4
Drug
[ DrugBank ]
Target gene
Target pathway
Domestic patients
Med expenses recipients (FY2022)
102Rubinstein-Taybi syndrome [Chr] 💬
"RSTS", "Histone acetylation disorder"
 3 trials 
  | 0 / 2 / 0 / 0 💬 
 5 drugs 
 [ 1 drug
 7 genes 
 17 pathways 
7 patients
Age distribution💬
103Cardio-facio-cutaneous syndrome [Chr] 💬
"CFC syndrome"
   8 patients
Age distribution💬
104Costello syndrome [Chr] 💬
   9 patients
Age distribution💬
105CHARGE syndrome [Chr] 💬
   34 patients
Age distribution💬
165Pachydermoperiostosis [Chr] 💬
"PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP"
   19 patients
Age distribution💬
168Ehlers-Danlos syndrome [Chr] 💬
"EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS"
 13 trials 
  | 1 / 2 / 5 / 3 💬 
 21 drugs 
 [ 11 drugs
 11 genes 
 103 pathways 
217 patients
Age distribution💬
170Occipital horn syndrome [Chr] 💬
 2 trials 
  | 1 / 1 / 1 / 0 💬 
 4 drugs 
 [ 3 drugs
 9 genes 
 14 pathways 
2 patients
Age distribution💬
173VATER syndrome [Chr] 💬
"VATER association", "VACTERL association"
   14 patients
Age distribution💬
174Nasu-Hakola disease [Chr] 💬
"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"
   6 patients
Age distribution💬
175Weaver syndrome [Chr] 💬
   -
176Coffin-Lowry syndrome [Chr] 💬
   5 patients
Age distribution💬
178Mowat-Wilson syndrome [Chr] 💬
   14 patients
Age distribution💬
180ATR-X syndrome [Chr] 💬
"Alpha-thalassemia mental retardation syndrome"
 1 trial 
  | 0 / 1 / 0 / 0 💬 
 3 drugs 
 [ 2 drugs
 6 patients
Age distribution💬
185Coffin-Siris syndrome [Chr] 💬
   4 patients
Age distribution💬
186Rothmund-Thomson syndrome [Chr] 💬
"RAPADILINO syndrome", "Baller-Gerold syndrome"
   3 patients
Age distribution💬
187Kabuki syndrome [Chr] 💬
 4 trials 
  | 1 / 0 / 0 / 0 💬 
 9 drugs 
 [ 2 drugs
 2 genes 
 11 pathways 
19 patients
Age distribution💬
192Cockayne syndrome [Chr] 💬
"CS"
 4 trials 
  | 1 / 3 / 0 / 0 💬 
 7 drugs 
 [ 3 drugs
 1 gene 
 51 pathways 
6 patients
Age distribution💬
194Sotos syndrome [Chr] 💬
   23 patients
Age distribution💬
195Noonan syndrome [Chr] 💬
 25 trials 
  | 0 / 3 / 16 / 0 💬 
 23 drugs 
 [ 5 drugs
 2 genes 
 9 pathways 
46 patients
Age distribution💬
196Young-Simpson syndrome [Chr] 💬
   -
1971p36 deletion syndrome [Chr] 💬
   8 patients
Age distribution💬
1984p deletion syndrome [Chr] 💬
"4p-syndrome"
   8 patients
Age distribution💬
1995p deletion syndrome [Chr] 💬
"5p-syndrome"
   7 patients
Age distribution💬
200Paternal uniparental disomy of chromosome 14 [Chr] 💬
"No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"
   6 patients
Age distribution💬
202Smith-Magenis syndrome [Chr] 💬
 9 trials 
  | 7 / 4 / 2 / 1 💬 
 10 drugs 
 [ 5 drugs
 4 genes 
 7 pathways 
4 patients
Age distribution💬
204Emanuel syndrome [Chr] 💬
"Derivative 22 syndrome", "Partial trisomy (11", "22)"
   5 patients
Age distribution💬
205Fragile X syndrome related disease [Chr] 💬
"Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome"
 5 trials 
  | 0 / 2 / 1 / 0 💬 
 7 drugs 
 [ 5 drugs
 22 genes 
 25 pathways 
8 patients
Age distribution💬
206Fragile X syndrome [Chr] 💬
 108 trials 
  | 35 / 49 / 16 / 8 💬 
 91 drugs 
 [ 36 drugs
 52 genes 
 77 pathways 
1 patient
Age distribution💬
227Osler disease [Chr] 💬
"Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"
 56 trials 
  | 22 / 31 / 14 / 5 💬 
 72 drugs 
 [ 21 drugs
 23 genes 
 136 pathways 
895 patients
Age distribution💬
287Epstein syndrome [Chr] 💬
   12 patients
Age distribution💬
310Congenital anomalies syndrome [Chr] 💬
"Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"
 11 trials 
  | 2 / 7 / 0 / 0 💬 
 20 drugs 
 [ 10 drugs
 3 genes 
 7 pathways 
32 patients
Age distribution💬
333Hutchinson-Gilford syndrome [Chr] 💬
"Hutchinson-Gilford progeria syndrome", "HGPS"
 8 trials 
  | 2 / 5 / 0 / 0 💬 
 8 drugs 
 [ 3 drugs
 4 genes 
 6 pathways 
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