H01383 | |
H number | H01383 |
Name | Hyperlipoproteinemia type IIa; LDL receptor disorder |
Description | Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. |
Category | Inherited metabolic disorder |
Network | - |
Gene | LDLR [HSA:3949] [KO:K12473] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C80.00 ICD-10: E78.0 MeSH: D006938 OMIM: 143890 |
Reference | PMID:21945105 AUTHORS Chan DC, Watts GF TITLE Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box. JOURNAL Metabolism 61:3-11 (2012) DOI:10.1016/j.metabol.2011.07.014 PMID:24253857 (GENE) AUTHORS Kassner U, Wuhle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I TITLE Clinical utility gene card for: hyperlipoproteinemia, TYPE II. JOURNAL Eur J Hum Genet 22:ejhg2013271 (2014) DOI:10.1038/ejhg.2013.271 |