19. Lysosomal storage disease Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 899 / Drugs : 684 - (DrugBank : 99) / Drug target genes : 51 - Drug target pathways : 182
| Previous names | - | ||
|---|---|---|---|
| Other names | Lysosomal disease; | ||
| Disease group | Metabolic diseases | ||
| Related info (in Japanese) | |||
| Designated intractable diseases (in Japanese) | Overview, Diagnostic criteria, etc. (docx), Table (docx), Clinical research form (pdf) (1), (2), (3), (4), (5), (6), (7), (8), (9), (10), (11), (12), (13), (14), (15), (16), (17), (18), (19), (20), (21), (22), (23), (24), (25), (26), (27), (28), (29), (30), (31) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 8-6-102. Other lysosomal diseases | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 19-1. | Gaucher disease; | 8-6-90. Gaucher disease | |
| 19-2. | Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD; | 8-6-89. Niemann-Pick disease | |
| 19-3. | Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC; | 8-6-89. Niemann-Pick disease | |
| 19-4. | GM1-gangliosidosis;GM1-gangliosidoses; | 8-6-86. GM1-gangliosidosis | |
| 19-5. | GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease; | 8-6-87. GM2-gangliosidosis | |
| 19-6. | Krabbe disease; | 8-6-92. Krabbe disease | |
| 19-7. | Metachromatic leukodystrophy;MLD; | 8-6-88. Metachromatic leukodystrophy | |
| 19-8. | Multiple-sulfatase deficiency; | 8-6-94. Multiple sulfatase deficiency | |
| 19-9. | Farber disease; | 8-6-93. Farber disease | |
| 19-10. | Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome; | 8-6-75. Mucopolysaccharidosis | |
| 19-11. | Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome; | 8-6-76. Mucopolysaccharidosis | |
| 19-12. | Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome; | 8-6-77. Mucopolysaccharidosis | |
| 19-13. | Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome; | 8-6-78. Mucopolysaccharidosis | |
| 19-14. | Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome; | 8-6-79. Mucopolysaccharidosis | |
| 19-15. | Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome; | 8-6-80. Mucopolysaccharidosis | |
| 19-16. | Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency; | ||
| 19-17. | Sialidosis; | 8-6-84. Sialidosis | |
| 19-18. | Galactosialidosis; | 8-6-85. Galactosialidosis | |
| 19-19. | Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III; | 8-6-95. Mucolipidosis II 8-6-96. Mucolipidosis III | |
| 19-20. | Alpha-Mannosidosis;Alpha-Mannosidase Deficiency; | 8-6-82. Mannosidosis (alpha-, beta-) | |
| 19-21. | Beta-Mannosidosis;Beta-Mannosidase Deficiency; | 8-6-82. Mannosidosis (alpha-, beta-) | |
| 19-22. | Fucosidosis; | 8-6-81. Fucosidosis | |
| 19-23. | Aspartylglucosaminuria; | 8-6-83. Aspartylglucosaminuria | |
| 19-24. | Schindler disease;Kanzaki disease; | ||
| 19-25. | Pompe disease; | 8-6-97. Pompe disease; glycogen storage disease type II | |
| 19-26. | Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease; | 8-6-98. Acid lipase deficiency; Wolman disease and cholesterol ester storage disease | |
| 19-27. | Danon disease; | ||
| 19-28. | Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease; | 8-6-100. Free Sialic Acid Storage Disease; Salla Disease; infantile Free Sialic Acid Storage Disease | |
| 19-29. | Ceroid lipofuscinosis; | 8-6-101. Neuronal Ceroid Lipofuscinoses; NCL | |
| 19-30. | Fabry disease; | 8-6-91. Fabry disease | |
| 19-31. | Cystinosis; | 8-6-99. Cystinosis | |