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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 Iii Deficiency
Alias:
Ubiquinone-Cytochrome C Oxidoreductase Deficiency
Isolated Coq-Cytochrome C Reductase Deficiency
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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
线粒体复合物III缺陷,也称为泛醌-细胞色素c氧化还原酶缺陷,与线粒体复合物III缺陷,核型1和线粒体复合物V缺陷,核型3有关。与线粒体复合物III缺陷相关的基因是TTC19(四肽重复域19),其相关通路/超级通路包括代谢和呼吸电子传递,化学耦合ATP合成和热能通过解耦联蛋白产生。相关组织包括肝脏和心脏,相关表型为shRNA丰度增加(Z-score>2)和shRNA丰度降低
Related ID:
MALACARDS:MTC008
MESH:C565128
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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15
54
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MTC008
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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