Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00272 | Multiple sulfatase deficiency | ... autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their ... | Inherited metabolic disorder, Lysosomal disease | SUMF1 [HSA:285362] [KO:K13444] | |
| H00423 | Sphingolipidosis | The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in ... | Inherited metabolic disorder, Lysosomal disease |
GLA [HSA:2717] [KO:K01189] GLB1 [HSA:2720] [KO:K12309] GBA [HSA:2629] [KO:K01201] ARSA [HSA:410] [KO:K01134] GALC [HSA:2581] [KO:K01202] SMPD1 [HSA:6609] [KO:K12350] ASAH1 [HSA:427] [KO:K12348] PSAP [HSA:5660] [KO:K12382] SUMF1 [HSA:285362] [KO:K13444] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |