Hypercholesterolemia, Familial, 4 (FHCL4)

Alias:

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

加入收藏

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

Related ID：

MALACARDS：HYP840

OMIM：603813

MESH：D006937