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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
罕见病
Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type
Alias:
Glutaric Aciduria Type 2, Severe Neonatal Type
Mad Deficiency, Severe Neonatal Type
Madd, Severe Neonatal Type
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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
多酰基辅酶A脱氢酶缺乏症,严重新生儿型,又称2-戊二酸尿症,严重新生儿型,与短链酰基辅酶A脱氢酶缺乏和肉碱-酰肉碱转运酶缺乏有关。与多酰基辅酶A脱氢酶缺乏症,严重新生儿型相关的基因是MADD(MAP激酶激活死亡域),其相关通路/超级通路包括代谢和呼吸电子传递,化学渗透耦联ATP合成和热能通过解偶联蛋白产生。相关表型是shRNA丰度增加(Z分数> 2)。
Related ID:
MALACARDS:MLT155
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
--
5
16
1
MLT155
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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IF
No Data Found!
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