KEGG   DISEASE: Hyperlipoproteinemia type IIaHelp
Entry
H01383                      Disease                                

Name
Hyperlipoproteinemia type IIa;
LDL receptor disorder
  Supergrp
Familial hypercholesterolemia [DS:H00155]
Hyperlipidemia [DS:H01635]
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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01383  Hyperlipoproteinemia type IIa
  Mitochondrial diseases
   H01383  Hyperlipoproteinemia type IIa
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C80  Hyperlipoproteinaemia
     H01383  Hyperlipoproteinemia type IIa
BRITE hierarchy
Pathway
hsa04144  Endocytosis
hsa04913  Ovarian steroidogenesis
hsa04976  Bile secretion
Gene
LDLR [HSA:3949] [KO:K12473]
Drug
Simvastatin [DR:D00434]
Fluvastatin sodium [DR:D00892]
Atorvastatin calcium [DR:D02258]
Cholestyramine resin [DR:D02690]
Ezetimibe [DR:D01966]
Lomitapide mesylate [DR:D09638]
Evolocumab [DR:D10557]
Alirocumab [DR:D10335]
Other DBs
ICD-11: 5C80.00
ICD-10: E78.0
MeSH: D006938
OMIM: 143890
Reference
  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
Reference
  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
Reference
PMID:17664376 (Drug)
  Authors
Rodenburg J, Vissers MN, Wiegman A, van Trotsenburg AS, van der Graaf A, de Groot E, Wijburg FA, Kastelein JJ, Hutten BA
  Title
Statin treatment in children with familial hypercholesterolemia: the younger, the better.
  Journal
Circulation 116:664-8 (2007)
DOI:10.1161/CIRCULATIONAHA.106.671016
Reference
PMID:24529145 (Drug)
  Authors
Santos PC, Morgan AC, Jannes CE, Turolla L, Krieger JE, Santos RD, Pereira AC
  Title
Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
  Journal
Atherosclerosis 233:206-10 (2014)
DOI:10.1016/j.atherosclerosis.2013.12.028
Reference
PMID:24079281 (Drug)
  Authors
Kusters DM, Hutten BA, McCrindle BW, Cassiman D, Francis GA, Gagne C, Gaudet D, Morrison KM, Langslet G, Kastelein JJ, Wiegman A
  Title
Design and baseline data of a pediatric study with rosuvastatin in familial hypercholesterolemia.
  Journal
J Clin Lipidol 7:408-13 (2013)
DOI:10.1016/j.jacl.2013.06.010
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