Hypercholesterolemia, Familial, 1 (FHCL1)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypercholesterolemia, Familial, 1, also known as hypercholesterolemia, is related to hypercholesterolemia, familial, 2 and hypercholesterolemia, familial, 4. An important gene associated with Hypercholesterolemia, Familial, 1 is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Metabolism of water-soluble vitamins and cofactors. The drugs Perindopril and Thrombin have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, and related phenotypes are increased ldl cholesterol concentration and coronary artery atherosclerosis

Related ID：

MALACARDS：HYP836

OMIM：143890

MESH：D006938

ICD11：163750325