3-Hydroxyacyl-Coa Dehydrogenase Deficiency (HADH DEFICIENCY)

Alias:
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase
Hadh Deficiency
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency
Schad Deficiency
Had Deficiency
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency
Schad Deficiency, Formerly
M/schad Deficiency
Metabolic Diseases
Hadhsc 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
3-羟基酰基辅酶A脱氢酶缺乏症,也称为3-羟基酰基辅酶A脱氢酶缺乏症,与长链3-羟基酰基辅酶A脱氢酶缺乏症、家族性高胰岛素血症4型有关,症状包括消瘦。与3-羟基酰基辅酶A脱氢酶缺乏症相关的重要基因是HADH(羟基酰基辅酶A脱氢酶)。在该疾病的背景下,已提到的药物有Elvitegravir和美沙酮。相关组织包括肝脏和骨骼肌,相关表型包括婴儿期的肌张力低下和喂养困难。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
9
6

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
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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