Hypercholesterolemia, Familial, 1 (FHCL1)

家族性高胆固醇血症1型(来自ICD-11)

别称:

Hypercholesterolemia

Hypercholesterolemic Xanthomatosis, Familial

Hypercholesterolemia, Susceptibility to

Hyper-Low-Density-Lipoproteinemia

Hyperlipoproteinemia, Type Iia

Hyperlipoproteinemia, Type Ii

Ldl Receptor Disorder

Fhcl1

Fhc

Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of

Ldl - [low Density Lipoprotein} Hyperlipoproteinemia

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Low-Density-Lipoid-Type Hyperlipoproteinemia

Hypercholesterolemia, Familial, Modifier of

Hypercholesterolemia, Familial, Type 1

Increased Low Density Lipoprotein

Essential Hypercholesterolaemia

Hyperlipoproteinemia Type Ii

Low-Density-Lipoprotein-Type

Ldl Cholesterol Level Qtl2

Pure Hypercholesterolaemia

Pure Hypercholesterinaemia

Essential Cholesterolaemia

Group a Hyperlipidaemia

Increased Cholesterol

Group a Hyperlipemia

High Cholesterol

Cholesterolaemia

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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

高胆固醇血症，家族性1型，也称为高胆固醇血症，家族性2型和高胆固醇血症，家族性4型。与高胆固醇血症，家族性1型相关的基因是LDLR（低密度脂蛋白受体），其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和水溶性维生素和辅因子的代谢。在该疾病的背景下提到了药物普瑞巴林和凝血酶。相关组织包括心脏和内皮细胞，相关表型为LDL胆固醇浓度增加和冠状动脉粥样硬化。

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