" /> Hypercholesterolemia, familial, 4 - CISMeF





Preferred Label : Hypercholesterolemia, familial, 4;

Symbol : FHCL4;

CISMeF acronym : ARH; ARH1; ARH2; FHCL4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARH2; ARH1; Fhcb2; Hypercholesterolemia, autosomal recessive, 1; Fhcb1; Hypercholesterolemia, autosomal recessive, 2; ARH; Hypercholesterolemia, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1, 605747.0001);

Laboratory abnormalities : Very high low-density lipoprotein (LDL) cholesterol ( 400 mg/dL); Hypertriglyceridemia; High total cholesterol ( 600 mg/dL);

Prefixed ID : #603813;

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28/07/2025


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