Fucosidosis (FUCA1D)

Fucosidosis(来自ICD-11)

别称:

Alpha-L-Fucosidase Deficiency

Fucosidase Deficiency Disease

Alpha Fucosidase Deficiency

Alpha-Fucosidase Deficiency

a-Fucosidase Deficiency

Fucosidase Deficiency

Fuca1d

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to angiokeratoma and fabry disease, and has symptoms including seizures An important gene associated with Fucosidosis is FUCA1 (Alpha-L-Fucosidase 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are failure to thrive and hyperhidrosis

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