Hyperlipoproteinemia Type II

A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).

Also Known As:

Familial Hypercholesterolemia; Hypercholesterolemia, Familial; Apolipoprotein B-100, Familial Defective; Apolipoprotein B-100, Familial Ligand-Defective; Familial Combined Hyperlipoproteinemia; Hyper-Low Density Lipoproteinemia; Hyper-Low-Density-Lipoproteinemia; Hyper-beta-Lipoproteinemia; Hypercholesterolemia, Autosomal Dominant; Hypercholesterolemia, Autosomal Dominant, Type B; Hypercholesterolemic Xanthomatosis, Familial; Hyperlipoproteinemia Type 2; Hyperlipoproteinemia Type IIa; Hyperlipoproteinemia Type IIb; Hyperlipoproteinemia, Type II; Hyperlipoproteinemia, Type IIa; LDL Receptor Disorder; Apolipoprotein B 100, Familial Defective; Apolipoprotein B 100, Familial Ligand Defective; Autosomal Dominant Hypercholesterolemia; Autosomal Dominant Hypercholesterolemias; Combined Hyperlipoproteinemia, Familial; Combined Hyperlipoproteinemias, Familial; Density Lipoproteinemia, Hyper-Low; Density Lipoproteinemias, Hyper-Low; Disorder, LDL Receptor; Disorders, LDL Receptor; Dominant Hypercholesterolemia, Autosomal; Dominant Hypercholesterolemias, Autosomal; Essential Hypercholesterolemia; Essential Hypercholesterolemias; Familial Combined Hyperlipoproteinemias; Familial Hypercholesterolemias; Familial Hypercholesterolemic Xanthomatoses; Familial Hypercholesterolemic Xanthomatosis; Hyper Low Density Lipoproteinemia; Hyper beta Lipoproteinemia; Hyper-Low Density Lipoproteinemias; Hyper-Low-Density-Lipoproteinemias; Hyper-beta-Lipoproteinemias; Hyperbetalipoproteinemias; Hypercholesterolemias, Autosomal Dominant; Hypercholesterolemias, Essential; Hypercholesterolemias, Familial; Hypercholesterolemic Xanthomatoses, Familial; Hyperlipoproteinemia Type 2s; Hyperlipoproteinemia Type IIas; Hyperlipoproteinemia Type IIbs; Hyperlipoproteinemia Type IIs; Hyperlipoproteinemia, Familial Combined; Hyperlipoproteinemias, Familial Combined; Hyperlipoproteinemias, Type II; Hyperlipoproteinemias, Type IIa; LDL Receptor Disorders; Lipoproteinemia, Hyper-Low Density; Lipoproteinemias, Hyper-Low Density; Receptor Disorder, LDL; Receptor Disorders, LDL; Type 2, Hyperlipoproteinemia; Type II Hyperlipoproteinemia; Type II Hyperlipoproteinemias; Type IIa Hyperlipoproteinemia; Type IIa Hyperlipoproteinemias; Xanthomatoses, Familial Hypercholesterolemic; Xanthomatosis, Familial Hypercholesterolemic; Hyperbetalipoproteinemia; Hypercholesterolemia, Essential

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type II: 4283
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type II: 4283
  - Lipid Metabolism Disorders: 898
    - Dyslipidemias: 18198
      - Hyperlipidemias: 16120
        Hyperlipoproteinemias: 1408
        Hyperlipoproteinemia Type II: 4283
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type II: 4283

familial High serum cholesterol

Disease Context: Research Results