| Descriptor English: | Hyperlipoproteinemia Type II | ||||||
| Descriptor Spanish: |
Hiperlipoproteinemia Tipo II
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| Descriptor Portuguese: | Hiperlipoproteinemia Tipo II | ||||||
| Descriptor French: | Hyperlipoprotéinémie de type II | ||||||
| Entry term(s): |
Apolipoprotein B 100, Familial Defective Apolipoprotein B 100, Familial Ligand Defective 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 Hyperlipoproteinemia Familial Combined Hyperlipoproteinemias Familial Hypercholesterolemia Familial Hypercholesterolemias Familial Hypercholesterolemic Xanthomatoses Familial Hypercholesterolemic Xanthomatosis Hyper Low Density Lipoproteinemia Hyper beta Lipoproteinemia Hyper-Low Density Lipoproteinemia Hyper-Low Density Lipoproteinemias Hyper-Low-Density-Lipoproteinemia Hyper-Low-Density-Lipoproteinemias Hyper-beta-Lipoproteinemia Hyper-beta-Lipoproteinemias Hyperbetalipoproteinemia Hyperbetalipoproteinemias Hypercholesterolemia, Autosomal Dominant Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Essential Hypercholesterolemia, Familial Hypercholesterolemias, Autosomal Dominant Hypercholesterolemias, Essential Hypercholesterolemias, Familial Hypercholesterolemic Xanthomatoses, Familial Hypercholesterolemic Xanthomatosis, Familial Hyperlipoproteinemia Type 2 Hyperlipoproteinemia Type 2s Hyperlipoproteinemia Type IIa Hyperlipoproteinemia Type IIas Hyperlipoproteinemia Type IIb Hyperlipoproteinemia Type IIbs Hyperlipoproteinemia Type IIs Hyperlipoproteinemia, Familial Combined Hyperlipoproteinemia, Type II Hyperlipoproteinemia, Type IIa Hyperlipoproteinemias, Familial Combined Hyperlipoproteinemias, Type II Hyperlipoproteinemias, Type IIa LDL Receptor Disorder 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 |
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| Tree number(s): |
C16.320.565.398.481 C18.452.584.500.500.644.475 C18.452.584.563.481 C18.452.648.398.481 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D006938 | ||||||
| Scope note: | 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). |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Hypercholesterolemia (1966-1979) Hyperlipidemia/familial & genetic (1966-1979) |
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| Public MeSH Note: | 2007; see HYPERCHOLESTEROLEMIA, FAMILIAL 1980-2007 |
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| History Note: | 2007 (1980) |
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| DeCS ID: | 7118 | ||||||
| Unique ID: | D006938 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1980/01/01 | ||||||
| Date of Entry: | 1979/04/23 | ||||||
| Revision Date: | 2013/07/09 |
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Hyperlipoproteinemia Type II
- Preferred
Hyperlipoproteinemia Type IIb
- Narrower
Hyperlipoproteinemia Type IIa
- Narrower
| Concept UI |
M0010819 |
| Scope note | 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). |
| Preferred term | Hyperlipoproteinemia Type II |
| Entry term(s) |
Density Lipoproteinemia, Hyper-Low Density Lipoproteinemias, Hyper-Low Essential Hypercholesterolemia Essential Hypercholesterolemias Familial Hypercholesterolemia Familial Hypercholesterolemias Familial Hypercholesterolemic Xanthomatoses Familial Hypercholesterolemic Xanthomatosis Hyper Low Density Lipoproteinemia Hyper beta Lipoproteinemia Hyper-Low Density Lipoproteinemia Hyper-Low Density Lipoproteinemias Hyper-Low-Density-Lipoproteinemia Hyper-Low-Density-Lipoproteinemias Hyper-beta-Lipoproteinemia Hyper-beta-Lipoproteinemias Hyperbetalipoproteinemia Hyperbetalipoproteinemias Hypercholesterolemia, Essential Hypercholesterolemia, Familial Hypercholesterolemias, Essential Hypercholesterolemias, Familial Hypercholesterolemic Xanthomatoses, Familial Hypercholesterolemic Xanthomatosis, Familial Hyperlipoproteinemia Type 2 Hyperlipoproteinemia Type 2s Hyperlipoproteinemia Type IIs Hyperlipoproteinemia, Type II Hyperlipoproteinemias, Type II Lipoproteinemia, Hyper-Low Density Lipoproteinemias, Hyper-Low Density Type 2, Hyperlipoproteinemia Type II Hyperlipoproteinemia Type II Hyperlipoproteinemias Xanthomatoses, Familial Hypercholesterolemic Xanthomatosis, Familial Hypercholesterolemic |
| Concept UI |
M0486998 |
| Scope note | Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia). |
| Preferred term | Hyperlipoproteinemia Type IIb |
| Entry term(s) |
Apolipoprotein B 100, Familial Defective Apolipoprotein B 100, Familial Ligand Defective Apolipoprotein B-100, Familial Defective Apolipoprotein B-100, Familial Ligand-Defective Combined Hyperlipoproteinemia, Familial Combined Hyperlipoproteinemias, Familial Familial Combined Hyperlipoproteinemia Familial Combined Hyperlipoproteinemias Hypercholesterolemia, Autosomal Dominant, Type B Hyperlipoproteinemia Type IIbs Hyperlipoproteinemia, Familial Combined Hyperlipoproteinemias, Familial Combined |
| Concept UI |
M0486997 |
| Scope note | Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis. |
| Preferred term | Hyperlipoproteinemia Type IIa |
| Entry term(s) |
Autosomal Dominant Hypercholesterolemia Autosomal Dominant Hypercholesterolemias Disorder, LDL Receptor Disorders, LDL Receptor Dominant Hypercholesterolemia, Autosomal Dominant Hypercholesterolemias, Autosomal Hypercholesterolemia, Autosomal Dominant Hypercholesterolemias, Autosomal Dominant Hyperlipoproteinemia Type IIas Hyperlipoproteinemia, Type IIa Hyperlipoproteinemias, Type IIa LDL Receptor Disorder LDL Receptor Disorders Receptor Disorder, LDL Receptor Disorders, LDL Type IIa Hyperlipoproteinemia Type IIa Hyperlipoproteinemias |
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