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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00141 | Fucosidosis | Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products ... | Inherited metabolic disorder, Lysosomal disease | FUCA1 [HSA:2517] [KO:K01206] | |
| H00422 | Glycoproteinoses | Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... | Inherited metabolic disorder, Lysosomal disease |
(Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186] (Galactosialidosis) CTSA [HSA:5476] [KO:K13289] (Galactosialidosis) GLB1 [HSA:2720] [KO:K12309] (alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311] (beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192] (AGU) AGA [HSA:175] [KO:K01444] (Fucosidosis) FUCA1 [HSA:2517] [KO:K01206] (Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204] |
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