脑腱性黄瘤症

Cerebrotendineous xanthomatosis
类型	xanthomatosis[]、autosomal recessive metabolic cerebellar ataxia[]、neurometabolic disease[]、subcutaneous tissue disease[]、rare hereditary metabolic disease with peripheral neuropathy[]、cerebral lipidosis[]、metabolic disease with cataract[]、sterol metabolism disorder with epilepsy[]、developmental anomaly of metabolic origin[]、bile acid synthesis defect with cholestasis and malabsorption[]、syndromic dyslipidemia[]、rare genetic subcutaneous tissue disorder[]、疾病
分类和外部资源
医学专科	医学遗传学、内分泌学
ICD-10	E75.5
ICD-9-CM	272.7
OMIM	213700
DiseasesDB	29239
MeSH	D019294
Orphanet	909

脑腱性黄瘤症是一先天脂质代谢异常疾病，由于2q33-qter位置上CYP27A1基因的缺损，导致细胞粒线体里的固醇27-羟化酶无法顺利作用，造成脂质中的胆甾烷醇及胆固醇无法有效地代谢而堆积在器官上，进而产生病变。

其发生率为1/50000，但此数据只代表高加索白人，全球整体数字则是未知。

遗传方面，其遗传方式为未知。

参考数据

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