Mitochondrial Complex Iii Deficiency, Nuclear Type 4 (MC3DN4)

Alias:
Mitochondrial Complex Iii Deficiency Nuclear Type 4
Mc4dn3
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Mitochondrial Complex 4 Deficiency, Nuclear Type 3
Mc3dn4
Mitochondrial Complex Iv Deficiency, Nuclear, Type 3
Mitochondrial Complex Iv Deficiency Nuclear Type 3
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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缺乏症,核型4,也称为线粒体复合物III缺乏症,核型4,与莱利综合症有关,症状包括共济失调、舞蹈病和锥体外系运动功能异常。与线粒体复合物III缺乏症,核型4有关的重要基因是COX10(细胞色素C氧化酶装配因子血红素A:法尼基转移酶COX10)。相关组织包括眼睛和肝脏,相关表型为过度反射和发育不良。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
9
4

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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