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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00137 | Niemann-Pick disease type A/B | Niemann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many ... | Inherited metabolic disorder, Lysosomal disease | SMPD1 [HSA:6609] [KO:K12350] | |
| 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] |
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| H00424 | Defects in the degradation of sphingomyelin | Defects in the degradation of sphingomyelin are a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by ... | Inherited metabolic disorder, Lysosomal disease |
(NPD) SMPD1 [HSA:6609] [KO:K12350] (Farber) ASAH1 [HSA:427] [KO:K12348] |
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