孤立性细胞色素C氧化酶缺乏症
Isolated cytochrome C oxidase deficiency
ORPHA:254905疾病
定义 英文原文（暂无中文）
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.
别名
孤立性线粒体呼吸链复合物IV缺乏症
基本事实
- 遗传方式
- 常染色体隐性、线粒体遗传
相关基因 14
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COX10 | cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Disease-causing germline mutation(s) in |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Disease-causing germline mutation(s) in |
| MT-CO2 | mitochondrially encoded cytochrome c oxidase II | Disease-causing germline mutation(s) (loss of function) in |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | Disease-causing germline mutation(s) in |
| COX6B1 | cytochrome c oxidase subunit 6B1 | Disease-causing germline mutation(s) in |
| COX14 | cytochrome c oxidase assembly factor COX14 | Disease-causing germline mutation(s) in |
| COX20 | cytochrome c oxidase assembly factor COX20 | Disease-causing germline mutation(s) in |
| COA3 | cytochrome c oxidase assembly factor 3 | Disease-causing germline mutation(s) in |
| COX8A | cytochrome c oxidase subunit 8A | Disease-causing germline mutation(s) (loss of function) in |
| COX5A | cytochrome c oxidase subunit 5A | Disease-causing germline mutation(s) (loss of function) in |
| PET117 | PET117 cytochrome c oxidase chaperone | Disease-causing germline mutation(s) in |
| COX4I1 | cytochrome c oxidase subunit 4I1 | Disease-causing germline mutation(s) in |
| COX16 | cytochrome c oxidase assembly factor COX16 | Disease-causing germline mutation(s) in |
| COX6A2 | cytochrome c oxidase subunit 6A2 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:220110OMIM:619046OMIM:619048MONDO:0009068GARD:48ICD-10 E88.8ICD-11 5C53.2YClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）