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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
Lipid Metabolism Disorder
Alias:
Dyslipidemia
Disorder of Fatty Acid Metabolism
Lipid Metabolism Disorders
Congenital Disorders of Lipid Metabolism
Inherited Disorders of Lipid Metabolism
Abnormality of Lipid Metabolism
Lipid Metabolism, Inborn Errors
Fatty Acid Metabolism Disorder
Fatty-Acid Metabolism Disorder
Disorders of Lipid Metabolism
Disorder of Lipid Metabolism
Dyslipidemias
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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
脂代谢紊乱,也称为高脂血症,与高脂蛋白血症、III型和低β脂蛋白血症、家族性有关。与脂代谢紊乱相关的重要基因是LIPC(肝脂酶C),其相关通路/超级通路包括无机离子/酸/寡肽的代谢和运输以及氨基酸/寡肽的代谢和运输。在该疾病的背景下提到了药物匹伐他汀和缬沙坦。附属组织包括肝脏和骨髓,相关表型为自由胆固醇增加和LDL摄取增加。
Related ID:
MALACARDS:LPD008
MESH:D008052
ICD11:182578312
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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127
1441
3
LPD008
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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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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