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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 (MADD)
Alias:
Madd
Glutaric Acidemia Type 2
Glutaric Acidemia Iia
Glutaric Acidemia Iib
Ethylmalonic-Adipicaciduria
Glutaric Aciduria Type 2
Glutaric Acidemia Iic
Mad Deficiency
Ga Ii
Ema
Multiple Acyl Coenzyme a Dehydrogenase Deficiency
Electron Transfer Flavoprotein Deficiency
Glutaric Acidemia Ii
Glutaric Aciduria Ii
Etfdh Deficiency
Etfa Deficiency
Etfb Deficiency
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency
Electron Transfer Flavoprotein Dehydrogenase Deficiency
Electron Transfer Flavoprotein, Deficiency of
Acyl-Coa Dehydrogenation Deficiency, Multiple
Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria
Glutaricaciduria, Type Iia
Glutaric Acidemia Type Ii
Glutaric Acidemia, Type 2
Glutaric Aciduria, Type 2
Glutaric Acidemia Type 2c
Glutaric Acidemia Type 2a
Glutaric Aciduria Iia
Glutaric Aciduria Iib
Glutaric Aciduria Iic
Glutaric Aciduria 2a
Glutaricaciduria Iia
Glutaric Aciduria 2b
Glutaricaciduria Iib
Glutaric Aciduria 2c
Glutaricaciduria Iic
Glutaricaciduria Ii
Glutaric Aciduria 2
Gaiia
Gaiib
Gaiic
Ga2a
Ga2b
Ga2c
Ga2
Mad
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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,也称为MADD,与多酰基辅酶A脱氢酶缺乏症,严重新生儿型和多酰基辅酶A脱氢酶缺乏症,轻型有关。与多酰基辅酶A脱氢酶缺乏症相关的重要基因是ETF DH(电子转移黄素蛋白脱氢酶),其相关通路/超级通路包括代谢和脂肪酸代谢。药物Pharmaceutical Solutions已在该疾病的背景下被提及。附属组织包括肝脏和肾脏,相关表型为肌张力低下和低血糖。
Related ID:
MALACARDS:MLT118
OMIM:231680
MESH:D054069
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/100000
46
219
155
MLT118
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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