Hepatic Lipase Deficiency (HL DEFICIENCY)

Alias:
Hl Deficiency
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency
Lipc Deficiency
Hmg Coa Lyase 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
肝脂酶缺乏症,也称为HL缺乏症,与肝甘油三酯脂酶和3-羟-3-甲基戊二酸辅酶A裂解酶缺乏引起的高脂血症有关,症状包括心绞痛。与肝脂酶缺乏症相关的重要基因是LIPC(肝脂酶C型)。相关组织包括心脏和肝脏,相关表型为高甘油三酯血症和高胆固醇血症。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
9

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
Year
IF
No Data Found!
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