Hypercholesterolemia, Familial, 4 (FHCL4)

Hypercholesterolemia, Familial, 4(来自ICD-11)

别称:

Hypercholesterolemia, Autosomal Recessive

Arh

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Autosomal Recessive Hypercholesterolemia

Fhcl4

Fhcb1

Fhcb2

Arh1

Arh2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Hypercholesterolemia, Familial, Autosomal Recessive

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Type 4

Fhcb1, Formerly

Fhcb2, Formerly

Arh1, Formerly

Arh2, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypercholesterolemia, Familial, 4, also known as hypercholesterolemia, autosomal recessive, is related to hypercholesterolemia, familial, 1 and hypolipoproteinemia. An important gene associated with Hypercholesterolemia, Familial, 4 is LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Vesicle-mediated transport. The drugs Atorvastatin and Alirocumab have been mentioned in the context of this disorder. Affiliated tissues include heart and breast, and related phenotypes are hypertriglyceridemia and hypercholesterolemia

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