Ataxia with Vitamin E Deficiency (AVED)

Alias:

Ataxia with Isolated Vitamin E Deficiency

Familial Isolated Vitamin E Deficiency

Aved

Familial Isolated Deficiency of Vitamin E

Friedreich-Like Ataxia

Isolated Vitamin E Deficiency

Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency

Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency

Ataxia Friedreich-Like with Selective Vitamin E Deficiency

Vitamin E Familial Isolated, Deficiency of

Vitamin E Deficiency, Familial Isolated

Ataxia, with Vitamin E Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to friedreich ataxia and aceruloplasminemia, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein), and among its related pathways/superpathways is Riboflavin and CoQ disorders. The drugs Lactitol and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include eye and breast, and related phenotypes are abnormal pyramidal sign and ataxia

Related ID：

MALACARDS：ATX019

OMIM：277460

MESH：C535393