KEGG   DISEASE: Familial combined hyperlipidemia
Entry
H00153                      Disease                                
Name
Familial combined hyperlipidemia
  Supergrp
Hyperlipidemia [DS:H01635]
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
Brite
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
     H00153  Familial combined hyperlipidemia
Gene
(FCHL1) USF1 [HSA:7391] [KO:K09106]
(FCHL3) LPL [HSA:4023] [KO:K01059]
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
Reference
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
Reference
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system