Mitochondrial Dna Depletion Syndrome 8a (MTDPS8A)

线粒体DNA耗竭综合征8A型（肾小管病性脑肌病型）(来自ICD-11)

别称:

Mitochondrial Dna Depletion Syndrome 8b

Mtdps8a

Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, with Renal Tubulopathy, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome Encephalomyopathic with Renal Tubulopathy Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type with Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related

Encephalomyopathic Mitochondrial Depletion Syndrome with Renal Tubulopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related

Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome 8b Mngie Type

Mitochondrial Dna Depletion Syndrome, Type 8a

Mngie Rrm2b-Related

Rrm2b-Mds

Mtdps8b

加入收藏

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DNA耗竭综合症8a，也称为线粒体DNA耗竭综合症8b，与线粒体DNA耗竭综合症4b和伴有外展性眼肌麻痹的内脏肌病有关，其症状包括消瘦、癫痫发作和步态共济失调。与线粒体DNA耗竭综合症8a有关的重要基因是RRM2B（核糖核苷酸还原酶调节TP53诱导亚基M2B），其相关通路/超级通路包括能量代谢。相关组织包括大脑和肾脏，相关表型包括近端肾小管病和乳酸酸中毒。

查看原文参与反馈