Familial Hypercholesterolemia (FH)

Alias:
Hyperlipoproteinemia Type Iia
Fredrickson Type Iia Hyperlipoproteinemia
Familial Hyperbetalipoproteinaemia
Fredrickson Type Iia Lipidaemia
Familial Hypercholesterolaemia
Hypercholesterolemia, Familial
Familial Hypercholesterolæmia
Hypercholesterolemia Familial
Hyperlipoproteinemia Type Ii
Familial Hypercholesteremia
Hyperbetalipoproteinemia
Type Ii Hyperlipidemia
Fh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Hypercholesterolemia, also known as hyperlipoproteinemia type iia, is related to homozygous familial hypercholesterolemia and hyperlipoproteinemia, type iii. An important gene associated with Familial Hypercholesterolemia 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 Clotrimazole and Heparin, bovine have been mentioned in the context of this disorder. Affiliated tissues include Liver and heart, and related phenotypes are Increased free cholesterol and liver/biliary system
Related ID:
MESH:D006938

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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71
575
838

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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