KEGG   DISEASE: Familial hypercholesterolemia
H00155                      Disease                                
Familial hypercholesterolemia;
Autosomal dominant hypercholesterolaemia
Familial autosomal recessive hypercholesterolemia [DS:H01918]
Hyperlipidemia [DS:H01635]
Familial hypercholesterolaemia (FHCL) 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.
Inherited metabolic disorder
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
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06320  APOB-LDLR signaling
   H00155  Familial hypercholesterolemia
hsa04979  Cholesterol metabolism
hsa04975  Fat digestion and absorption
nt06320 APOB-LDLR signaling
(FHCL1) LDLR [HSA:3949] [KO:K12473]
(FHCL1) EPHX2 [HSA:2053] [KO:K08726]
(FHCL1) GHR [HSA:2690] [KO:K05080]
(FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
(FHCL1) APOA2 [HSA:336] [KO:K08758]
(FHCL2) APOB [HSA:338] [KO:K14462]
(FHCL3) PCSK9 [HSA:255738] [KO:K13050]
(FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
Simvastatin [DR:D00434]
Pravastatin sodium [DR:D00893]
Fluvastatin sodium [DR:D00892] (Heterozygous familial)
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]
Bempedoic acid [DR:D10691]
Inclisiran [DR:D11931]
Inclisiran sodium [DR:D12293]
Evinacumab [DR:D11753]
Niacin and lovastatin [DR:D10292]
Ezetimibe and simvastatin [DR:D10257]
Bempedoic acid and ezetimibe [DR:D11794]
Ezetimibe and rosuvastatin [DR:D11520]
Other DBs
ICD-11: 5C80.00
ICD-10: E78.0
MeSH: D006937
OMIM: 143890 144010 603776 603813
Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Curr Opin Lipidol 19:362-8 (2008)
Newson AJ, Humphries SE
Cascade testing in familial hypercholesterolaemia: how should family members be contacted?
Eur J Hum Genet 13:401-8 (2005)
Hadfield SG, Humphries SE
Implementation of cascade testing for the detection of familial hypercholesterolaemia.
Curr Opin Lipidol 16:428-33 (2005)
PMID:11389828 (LDLR)
Koivisto UM, Hubbard AL, Mellman I
A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor.
Cell 105:575-85 (2001)
PMID:14673705 (EPHX2)
Sato K, Emi M, Ezura Y, Fujita Y, Takada D, Ishigami T, Umemura S, Xin Y, Wu LL, Larrinaga-Shum S, Stephenson SH, Hunt SC, Hopkins PN
Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.
J Hum Genet 49:29-34 (2004)
PMID:12910492 (GHR)
Takada D, Ezura Y, Ono S, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN, Emi M
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.
Am J Med Genet A 121A:136-40 (2003)
PMID:12955585 (PPP1R17)
Ono S, Ezura Y, Emi M, Fujita Y, Takada D, Sato K, Ishigami T, Umemura S, Takahashi K, Kamimura K, Bujo H, Saito Y
A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
J Hum Genet 48:447-450 (2003)
PMID:12522687 (APOA2)
Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
J Hum Genet 47:656-64 (2002)
PMID:10952765 (APOB)
Saint-Jore B, Varret M, Dachet C, Rabes JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathe D, Chanu B, Jacotot B, Farnier M, Bonaiti-Pellie C, Junien C, Boileau C
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
Eur J Hum Genet 8:621-30 (2000)
PMID:12730697 (PCSK9)
Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Nat Genet 34:154-6 (2003)
PMID:12016260 (LDLRAP1)
Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
Circ Res 90:951-8 (2002)

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