19. Lysosomal storage disease Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 990 / Drugs : 584 - (DrugBank : 126) / Drug target genes : 62 - Drug target pathways : 192
| Other names | Lysosomal disease; | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
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Domestic patients
Med expenses recipients (FY2023) |
1,756 patients Age distribution
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| Related info (in Japanese) | |||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Table（新規用） (pdf), Clinical research form (pdf) 019-01, 019-02, 019-03, 019-04, 019-05, 019-06, 019-07, 019-08, 019-09, 019-10, 019-11, 019-12, 019-13, 019-14, 019-15, 019-16, 019-17, 019-18, 019-19, 019-20, 019-21, 019-22, 019-23, 019-24, 019-25, 019-26, 019-27, 019-28, 019-29, 019-30, 019-31 | ||
| 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 | |