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| 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 |
(Fabry) GLA [HSA:2717] [KO:K01189] (GM1G) GLB1 [HSA:2720] [KO:K12309] (GM2G1) HEXA [HSA:3073] [KO:K12373] (GM2G2) HEXB [HSA:3074] [KO:K12373] (GD) GBA [HSA:2629] [KO:K01201] (MLD) ARSA [HSA:410] [KO:K01134] (KRB) GALC [HSA:2581] [KO:K01202] (NPD) SMPD1 [HSA:6609] [KO:K12350] (FRBRL) ASAH1 [HSA:427] [KO:K12348] (MSD) SUMF1 [HSA:285362] [KO:K13444] (GD/MLD/KRB) PSAP [HSA:5660] [KO:K12382] |
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