Mitochondrial Complex Iv Deficiency, Nuclear Type 1 (MC4DN1)

线粒体复合物Ⅳ缺乏核基因型1型(来自ICD-11)

别称:

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cytochrome-C Oxidase Deficiency Disease

Cytochrome-C Oxidase Deficiency

Cox Deficiency

Mc4dn1

Mc1dn4

Mitochondrial Complex I Deficiency, Nuclear Type 4

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Lethal Neonatal Cardiomyopathy Hypertrophic Due to Cytochrome C Oxidase Deficiency

Complex Iv Mitochondrial Respiratory Chain Deficiency

Complex 4 Mitochondrial Respiratory Chain Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Mitochondrial Complex Iv Deficiency Nuclear Type 1

Nuclear Type Mitochondrial Complex I Deficiency 4

Mi Complex I Deficiency, Nuclear Type 4

Complex Iv Deficiency

Mt-C4d

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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

线粒体复合体IV缺陷，核型1，也称为细胞色素C氧化酶缺陷，与cox缺陷、婴儿线粒体肌病和婴儿暂时性线粒体肌病有关，症状包括共济失调、呼吸困难和癫痫发作。与线粒体复合体IV缺陷，核型1有关的重要基因是SURF1（SURF1细胞色素C氧化酶装配因子），其相关通路/超级通路包括代谢和细胞对刺激的反应。附属组织包括肝脏和大脑，相关表型为发育不良和共济失调。

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