Acatalasemia (ACATLAS)

Alias:

Acatalasia

Catalase Deficiency

Deficiency of Catalase

Takahara's Disease

Takahara Disease

Acatlas

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Acatalasemia, also known as acatalasia, is related to adrenoleukodystrophy and neonatal adrenoleukodystrophy. An important gene associated with Acatalasemia is CAT (Catalase), and among its related pathways/superpathways are Cellular responses to stimuli and Nuclear events mediated by NFE2L2. Affiliated tissues include liver and t cells, and related phenotypes are reduced catalase level and oral ulcer

Related ID：

MALACARDS：ACT209

OMIM：614097

MESH：D020642