Hypercholesterolemia, Familial, 2 (FHCL2)

Alias:
Hypercholesterolemia, Autosomal Dominant, Type B
Apolipoprotein B-100, Familial Defective
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B
Apolipoprotein B-100, Familial Ligand-Defective
Fhcl2
Familial Ligand-Defective Apolipoprotein B-100
Hypercholesterolemia, Familial, Type 2
Hyperlipoproteinemia Type Iib
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypercholesterolemia, Familial, 2, also known as hypercholesterolemia, autosomal dominant, type b, is related to hypobetalipoproteinemia, familial, 1 and hyperlipidemia, familial combined, 3. An important gene associated with Hypercholesterolemia, Familial, 2 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Vesicle-mediated transport and Metabolism of water-soluble vitamins and cofactors. The drugs Hypolipidemic Agents and Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are increased ldl cholesterol concentration and hypercholesterolemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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3
66
97

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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