Hyperlipoproteinemia Type I
"Hyperlipoproteinemia Type I" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D008072
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| MeSH Number(s) |
C16.320.565.398.465 C18.452.584.500.500.644.237 C18.452.648.398.465
|
| Concept/Terms |
Hyperlipoproteinemia Type I- Hyperlipoproteinemia Type I
- Hyperlipoproteinemia Type Is
- Chylomicronemia, Familial
- Chylomicronemias, Familial
- Familial Chylomicronemia
- Familial Chylomicronemias
- Familial Hyperchylomicronemia
- Familial Hyperchylomicronemias
- Hyperchylomicronemias, Familial
- Familial Hyperlipoproteinemia Type 1
- Familial Lipoprotein Lipase Deficiency
- Familial LPL Deficiency
- Deficiencies, Familial LPL
- Deficiency, Familial LPL
- Familial LPL Deficiencies
- LPL Deficiencies, Familial
- LPL Deficiency, Familial
- Hyperchylomicronemia, Familial
- Hyperlipemia, Essential Familial
- Essential Familial Hyperlipemia
- Essential Familial Hyperlipemias
- Familial Hyperlipemia, Essential
- Familial Hyperlipemias, Essential
- Hyperlipemias, Essential Familial
- Hyperlipemia, Idiopathic, Burger-Grutz Type
- Hyperlipoproteinemia Type Ia
- Hyperlipoproteinemia Type Ias
- Hyperlipoproteinemia, Type I
- Hyperlipoproteinemias, Type I
- Type I Hyperlipoproteinemia
- Type I Hyperlipoproteinemias
- Hyperlipoproteinemia, Type Ia
- Hyperlipoproteinemias, Type Ia
- Type Ia Hyperlipoproteinemia
- Type Ia Hyperlipoproteinemias
- Lipase D Deficiency
- Deficiencies, Lipase D
- Deficiency, Lipase D
- Lipase D Deficiencies
- LIPD Deficiency
- Deficiencies, LIPD
- Deficiency, LIPD
- LIPD Deficiencies
- Lipoprotein Lipase Deficiency
- Deficiencies, Lipoprotein Lipase
- Deficiency, Lipoprotein Lipase
- Lipase Deficiencies, Lipoprotein
- Lipoprotein Lipase Deficiencies
- Lipoprotein Lipase Deficiency, Familial
- Burger-Grutz Syndrome
- Burger Grutz Syndrome
- Burger-Grutz Syndromes
- Syndrome, Burger-Grutz
- Syndromes, Burger-Grutz
Apolipoprotein C-II Deficiency- Apolipoprotein C-II Deficiency
- Apolipoprotein C II Deficiency
- Apolipoprotein C-II Deficiencies
- Deficiencies, Apolipoprotein C-II
- Deficiency, Apolipoprotein C-II
- Hyperlipoproteinemia, Type Ib
- Hyperlipoproteinemias, Type Ib
- Type Ib Hyperlipoproteinemia
- Type Ib Hyperlipoproteinemias
- Hyperlipoproteinemia Type Ib
- Hyperlipoproteinemia Type Ibs
- C-II Anapolipoproteinemia
- Anapolipoproteinemia, C-II
- Anapolipoproteinemias, C-II
- C-II Anapolipoproteinemias
- Familial Fat-Induced Hypertriglyceridemia
- Familial Fat Induced Hypertriglyceridemia
- Familial Fat-Induced Hypertriglyceridemias
- Fat-Induced Hypertriglyceridemia, Familial
- Fat-Induced Hypertriglyceridemias, Familial
- Hypertriglyceridemia, Familial Fat-Induced
- Hypertriglyceridemias, Familial Fat-Induced
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Below are MeSH descriptors whose meaning is more general than "Hyperlipoproteinemia Type I".
Below are MeSH descriptors whose meaning is more specific than "Hyperlipoproteinemia Type I".
This graph shows the total number of publications written about "Hyperlipoproteinemia Type I" by people in this website by year, and whether "Hyperlipoproteinemia Type I" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hyperlipoproteinemia Type I" by people in Profiles.
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Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome. N Engl J Med. 2024 May 16; 390(19):1781-1792.
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Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial. Nat Med. 2023 03; 29(3):729-737.
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A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. Am J Hum Genet. 1992 Jun; 50(6):1275-80.
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Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. J Biol Chem. 1991 Aug 05; 266(22):14418-24.