Hyperlipoproteinemia Type I

An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.

Also Known As:

Lipoprotein Lipase Deficiency, Familial; Apolipoprotein C II Deficiency; Familial Hyperchylomicronemia; Familial Lipoprotein Lipase Deficiency; Hyperchylomicronemia, Familial; Burger-Grutz Syndrome; C-II Anapolipoproteinemia; Chylomicronemia, Familial; Familial Fat-Induced Hypertriglyceridemia; Familial Hyperlipoproteinemia Type 1; Familial LPL Deficiency; Hyperlipemia, Essential Familial; Hyperlipemia, Idiopathic, Burger-Grutz Type; Hyperlipoproteinemia Type Ia; Hyperlipoproteinemia Type Ib; Hyperlipoproteinemia, Type I; Hyperlipoproteinemia, Type Ia; Hyperlipoproteinemia, Type Ib; LIPD Deficiency; Lipase D Deficiency; Lipoprotein Lipase Deficiency; Anapolipoproteinemia, C-II; Anapolipoproteinemias, C-II; Apolipoprotein C-II Deficiencies; Burger Grutz Syndrome; Burger-Grutz Syndromes; C-II Anapolipoproteinemias; Chylomicronemias, Familial; Deficiencies, Apolipoprotein C-II; Deficiencies, Familial LPL; Deficiencies, LIPD; Deficiencies, Lipase D; Deficiencies, Lipoprotein Lipase; Deficiency, Apolipoprotein C-II; Deficiency, Familial LPL; Deficiency, LIPD; Deficiency, Lipase D; Deficiency, Lipoprotein Lipase; Essential Familial Hyperlipemia; Essential Familial Hyperlipemias; Familial Chylomicronemia; Familial Chylomicronemias; Familial Fat Induced Hypertriglyceridemia; Familial Fat-Induced Hypertriglyceridemias; Familial Hyperchylomicronemias; Familial Hyperlipemia, Essential; Familial Hyperlipemias, Essential; Familial LPL Deficiencies; Fat-Induced Hypertriglyceridemia, Familial; Fat-Induced Hypertriglyceridemias, Familial; Hyperchylomicronemias, Familial; Hyperlipemias, Essential Familial; Hyperlipoproteinemia Type Ias; Hyperlipoproteinemia Type Ibs; Hyperlipoproteinemia Type Is; Hyperlipoproteinemias, Type I; Hyperlipoproteinemias, Type Ia; Hyperlipoproteinemias, Type Ib; Hypertriglyceridemia, Familial Fat-Induced; Hypertriglyceridemias, Familial Fat-Induced; LIPD Deficiencies; LPL Deficiencies, Familial; LPL Deficiency, Familial; Lipase D Deficiencies; Lipase Deficiencies, Lipoprotein; Lipoprotein Lipase Deficiencies; Syndrome, Burger-Grutz; Syndromes, Burger-Grutz; Type I Hyperlipoproteinemia; Type I Hyperlipoproteinemias; Type Ia Hyperlipoproteinemia; Type Ia Hyperlipoproteinemias; Type Ib Hyperlipoproteinemia; Type Ib Hyperlipoproteinemias; Apolipoprotein C-II Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type I: 379
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type I: 379
  - Lipid Metabolism Disorders: 987
    - Dyslipidemias: 18780
      - Hyperlipidemias: 16526
        Hyperlipoproteinemias: 1409
        Hyperlipoproteinemia Type I: 379
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type I: 379

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Dea Svaneby Research Topics

Disease

Drug/Important Bio-Agent (IBA)