Combined Oxidative Phosphorylation Deficiency 3 (COXPD3)

Alias:

Fatal Mitochondrial Disease Due to Combined Oxidative Phosphorylation Defect Type 3

Coxpd3

Encephalomyopathy, Respiratory Failure, and Lactic Acidosis

Concentric Cardiomyopathy, Hypotonia, and Lactic Acidosis

Fatal Mitochondrial Disease Due to Coxpd3

Encephalomyopathy with Respiratory Failure and Lactic Acidosis

Encephalomyopathy Respiratory Failure and Lactic Acidosis

Concentric Cardiomyopathy Hypotonia and Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 3

Favorite

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

复合氧化磷酸化缺陷3，也称为致命性线粒体疾病，由于复合氧化磷酸化缺陷3型，与复合氧化磷酸化缺陷4和线粒体疾病有关，症状包括共济失调、癫痫发作和震颤。与复合氧化磷酸化缺陷3有关的重要基因是TSFM（线粒体Ts翻译延伸因子），其相关通路/超级通路包括蛋白质代谢和肽链延伸。附属组织包括大脑，相关表型包括扩张型心肌病和肌张力低下。

Related ID：

MALACARDS：CMB014

OMIM：610505

MESH：C566467