KEGG   DISEASE: Familial hypercholesterolemiaHelp
Entry
H00155                      Disease                                

Name
Familial hypercholesterolemia;
Autosomal dominant hypercholesterolaemia
  Subgroup
Hyperlipoproteinemia type IIa [DS:H01383]
  Supergrp
Hyperlipidemia [DS:H01635]
Description
Familial hypercholesterolaemia is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease.
Category
Inherited metabolic disease; Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00155  Familial hypercholesterolemia
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
     H00155  Familial hypercholesterolemia
BRITE hierarchy
Pathway
hsa04976  Bile secretion
hsa04144  Endocytosis
Network
  Element
N00333  Mutation-caused aberrant APOB to vesicular uptake of lipoproteins
N00334  Mutation-inactivated LDLR to vesicular uptake of lipoproteins
N00337  Mutation-activated PCSK9 to PCSK9-mediated LDLR degradation
Gene
LDLR [HSA:3949] [KO:K12473]
APOB [HSA:338] [KO:K14462]
PCSK9 [HSA:255738] [KO:K13050]
Drug
Simvastatin [DR:D00434]
Pravastatin sodium [DR:D00893]
Fluvastatin sodium [DR:D00892]
Atorvastatin calcium [DR:D02258]
Rosuvastatin calcium [DR:D01915]
Ezetimibe [DR:D01966]
Mipomersen sodium [DR:D08946]
Lomitapide mesylate [DR:D09638]
Evolocumab [DR:D10557]
Alirocumab [DR:D10335]
Niacin and lovastatin [DR:D10292]
Ezetimibe and simvastatin [DR:D10257]
Other DBs
ICD-11: 5C80.00
ICD-10: E78.0
MeSH: D006937
OMIM: 143890 144010 603776
Reference
  Authors
Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D
  Title
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
  Journal
Curr Opin Lipidol 19:362-8 (2008)
DOI:10.1097/MOL.0b013e32830636e5
Reference
  Authors
Newson AJ, Humphries SE
  Title
Cascade testing in familial hypercholesterolaemia: how should family members be contacted?
  Journal
Eur J Hum Genet 13:401-8 (2005)
DOI:10.1038/sj.ejhg.5201360
Reference
  Authors
Hadfield SG, Humphries SE
  Title
Implementation of cascade testing for the detection of familial hypercholesterolaemia.
  Journal
Curr Opin Lipidol 16:428-33 (2005)
Reference
PMID:24589695 (Drug)
  Authors
Rader DJ, Kastelein JJ
  Title
Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia.
  Journal
Circulation 129:1022-32 (2014)
DOI:10.1161/CIRCULATIONAHA.113.001292
Reference
PMID:24373748 (Drug)
  Authors
Farnier M
  Title
PCSK9: From discovery to therapeutic applications.
  Journal
Arch Cardiovasc Dis 107:58-66 (2014)
DOI:10.1016/j.acvd.2013.10.007
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