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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, 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:
MALACARDS:MTC087
OMIM:615159
MESH:D017237
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
9
4
MTC087
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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