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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 (MC4DN1)
Alias:
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。
Related ID:
MALACARDS:MTC205
OMIM:220110
MESH:D028361
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
59
203
143
MTC205
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
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No data available
Gene & Mutation
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Name
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