| H00155 | |
| H number | H00155 |
| Name | Familial hypercholesterolemia; Autosomal dominant hypercholesterolaemia |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | nt06320(H00155) APOB-LDLR signaling |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | 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] |
| Comment | - |
| Other DBs | ICD-11: 5C80.00 ICD-10: E78.0 MeSH: D006937 OMIM: 143890 144010 603776 603813 |
| Reference | PMID:18607183 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 PMID:15657617 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 PMID:15990592 AUTHORS Hadfield SG, Humphries SE TITLE Implementation of cascade testing for the detection of familial hypercholesterolaemia. JOURNAL Curr Opin Lipidol 16:428-33 (2005) DOI:10.1097/01.mol.0000174152.76554.d6 PMID:11389828 (LDLR) AUTHORS Koivisto UM, Hubbard AL, Mellman I TITLE A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor. JOURNAL Cell 105:575-85 (2001) DOI:10.1016/s0092-8674(01)00371-3 PMID:14673705 (EPHX2) AUTHORS 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 TITLE Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred. JOURNAL J Hum Genet 49:29-34 (2004) DOI:10.1007/s10038-003-0103-6 PMID:12910492 (GHR) AUTHORS 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 TITLE Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred. JOURNAL Am J Med Genet A 121A:136-40 (2003) DOI:10.1002/ajmg.a.20172 PMID:12955585 (PPP1R17) AUTHORS Ono S, Ezura Y, Emi M, Fujita Y, Takada D, Sato K, Ishigami T, Umemura S, Takahashi K, Kamimura K, Bujo H, Saito Y TITLE A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia. JOURNAL J Hum Genet 48:447-450 (2003) DOI:10.1007/s10038-003-0055-x PMID:12522687 (APOA2) AUTHORS 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 TITLE 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. JOURNAL J Hum Genet 47:656-64 (2002) DOI:10.1007/s100380200101 PMID:10952765 (APOB) AUTHORS 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 TITLE 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. JOURNAL Eur J Hum Genet 8:621-30 (2000) DOI:10.1038/sj.ejhg.5200516 PMID:12730697 (PCSK9) AUTHORS 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 TITLE Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. JOURNAL Nat Genet 34:154-6 (2003) DOI:10.1038/ng1161 PMID:12016260 (LDLRAP1) AUTHORS Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC TITLE Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. JOURNAL Circ Res 90:951-8 (2002) DOI:10.1161/01.res.0000018002.43041.08 |