Molybdenum Cofactor Deficiency, Complementation Group a (MOCODA)

钼辅助因子缺乏症补体组A型(来自ICD-11)

别称:

Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type a

Mocoda

Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type a

Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase

Molybdenum Cofactor Deficiency Type a

Molybdenum Cofactor Deficiency a

Mocod Type a

Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase, Combined Deficiency of

Deficiency, Molybdenum Cofactor, Complementation Group a

Molybdenum Cofactor Deficiency Complementation Group a

Molybdenum Cofactor Deficiency, Type a

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

钼硫氧还蛋白缺乏症，补体组a，也被称为由于钼硫氧还蛋白缺乏型a导致的亚硫酸氧化酶缺乏症，与钼硫氧还蛋白缺乏症，补体组c和钼硫氧还蛋白缺乏症，补体组b有关，症状包括后弯症。与钼硫氧还蛋白缺乏症，补体组a相关的基因是MOCS1（钼硫氧还蛋白合成1），其相关通路/超级通路包括代谢和SLITs和ROBOs表达的调节。相关组织包括眼和脑，相关表型为巨脑和智力障碍。

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