loading...| Preferred Name |
Hyperlipoproteinemia Type II |
|
| Synonyms |
Apolipoprotein B 100, Familial Ligand Defective Hypercholesterolemia, Essential |
|
| Definitions |
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). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D006938 |
|
| altLabel |
Apolipoprotein B 100, Familial Ligand Defective Hyperlipoproteinemia, Type II Familial Hypercholesterolemic Xanthomatosis Familial Hypercholesterolemia Hyper-beta-Lipoproteinemias Type IIa Hyperlipoproteinemia Type 2, Hyperlipoproteinemia Hyper-Low Density Lipoproteinemias Familial Combined Hyperlipoproteinemias Hypercholesterolemic Xanthomatoses, Familial Hypercholesterolemia, Familial Hypercholesterolemias, Essential Type IIa Hyperlipoproteinemias Receptor Disorders, LDL Autosomal Dominant Hypercholesterolemia Hyperlipoproteinemias, Type II Hyperlipoproteinemia Type IIas Hypercholesterolemic Xanthomatosis, Familial Xanthomatosis, Familial Hypercholesterolemic Hyperlipoproteinemia, Type IIa Disorder, LDL Receptor Hyperbetalipoproteinemias Hyper-Low-Density-Lipoproteinemias Hyperbetalipoproteinemia Hyper Low Density Lipoproteinemia Familial Hypercholesterolemic Xanthomatoses Density Lipoproteinemia, Hyper-Low Combined Hyperlipoproteinemia, Familial Essential Hypercholesterolemias Lipoproteinemias, Hyper-Low Density Familial Hypercholesterolemias Familial Combined Hyperlipoproteinemia Hyperlipoproteinemia Type 2 Density Lipoproteinemias, Hyper-Low Autosomal Dominant Hypercholesterolemias Dominant Hypercholesterolemia, Autosomal Hypercholesterolemias, Autosomal Dominant Disorders, LDL Receptor Hypercholesterolemia, Autosomal Dominant, Type B Hyperlipoproteinemia Type IIa Apolipoprotein B-100, Familial Ligand-Defective Hyperlipoproteinemia Type IIb Hyperlipoproteinemia Type IIbs Hypercholesterolemia, Autosomal Dominant Combined Hyperlipoproteinemias, Familial Hyperlipoproteinemia, Familial Combined Receptor Disorder, LDL Apolipoprotein B 100, Familial Defective LDL Receptor Disorders Dominant Hypercholesterolemias, Autosomal Hyper-Low-Density-Lipoproteinemia Hyperlipoproteinemia Type 2s Type II Hyperlipoproteinemia LDL Receptor Disorder Xanthomatoses, Familial Hypercholesterolemic Type II Hyperlipoproteinemias Hypercholesterolemias, Familial Hyperlipoproteinemia Type IIs Hyperlipoproteinemias, Type IIa Hyper-Low Density Lipoproteinemia Lipoproteinemia, Hyper-Low Density Hyper-beta-Lipoproteinemia Essential Hypercholesterolemia Hyper beta Lipoproteinemia Hyperlipoproteinemias, Familial Combined Apolipoprotein B-100, Familial Defective Hypercholesterolemia, Essential |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0020445 C1704417 C0745103 |
|
| DC |
1 |
|
| definition |
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). 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. 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). |
|
| DX |
19800101 |
|
| HN |
2007 (1980) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2007; see HYPERCHOLESTEROLEMIA, FAMILIAL 1980-2007 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566262 |
|
| MDA |
19790423 |
|
| MMR |
20210630 |
|
| MN |
C18.452.648.398.481 C16.320.565.398.481 C18.452.584.563.481 C18.452.584.500.500.644.475 |
|
| notation |
D006938 |
|
| prefLabel |
Hyperlipoproteinemia Type II |
|
| TERMUI |
T020859 T751032 T751033 T645976 T811644 T645973 T020860 T645977 T751031 T646570 T645975 T811643 T020862 T812589 T645974 T020861 T824593 T645972 T824592 |
|
| TH |
OMIM (2013) UNK (19XX) NLM (2010) NLM (2007) NLM (1980) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |