H00153 | |
H number | H00153 |
Name | Familial combined hyperlipidemia |
Description | Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides, or both. |
Category | Inherited metabolic disorder |
Network | - |
Gene | (FCHL1) USF1 [HSA:7391] [KO:K09106] (FCHL3) LPL [HSA:4023] [KO:K01059] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C80.2 ICD-10: E78.4 MeSH: D006950 OMIM: 602491 144250 |
Reference | PMID:16680034 AUTHORS Naukkarinen J, Ehnholm C, Peltonen L TITLE Genetics of familial combined hyperlipidemia. JOURNAL Curr Opin Lipidol 17:285-90 (2006) DOI:10.1097/01.mol.0000226121.27931.3f PMID:16531745 (FCHL1) AUTHORS Lee JC, Lusis AJ, Pajukanta P TITLE Familial combined hyperlipidemia: upstream transcription factor 1 and beyond. JOURNAL Curr Opin Lipidol 17:101-9 (2006) DOI:10.1097/01.mol.0000217890.54875.13 PMID:14991056 (FCHL1) AUTHORS Pajukanta P, Lilja HE, Sinsheimer JS, Cantor RM, Lusis AJ, Gentile M, Duan XJ, Soro-Paavonen A, Naukkarinen J, Saarela J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L TITLE Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). JOURNAL Nat Genet 36:371-6 (2004) DOI:10.1038/ng1320 PMID:7753827 (FCHL3) AUTHORS Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS TITLE A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. JOURNAL Proc Natl Acad Sci U S A 92:4462-6 (1995) DOI:10.1073/pnas.92.10.4462 |