Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Combined familial hyperlipidemia with VLDL overproduction

Combined familial hyperlipidemia with VLDL overproduction is a group of disorder in which mutations cause an enhanced production and secretion of VLDL into plasma.

Systematic

Familial combined Hyperlipemia
Combined familial hyperlipidemia with VLDL overproduction
APOE
GCKR
OSBPL10
USF1
Combined familial hyperlipidemia with adipose tissue dysfunction
Combined familial hyperlipidemia with dysfunctional LDL clearance
Combined familial hyperlipidemia with dysfunctional VLDL metabolism

References:

1.

Pajukanta P et. al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

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2.

Coon H et. al. (2005) Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.

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3.

Aouizerat BE et. al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11.

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4.

Bodnar JS et. al. (2002) Positional cloning of the combined hyperlipidemia gene Hyplip1.

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5.

Pajukanta P et. al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23.

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6.

Castellani LW et. al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain.

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7.

Pei W et. al. (2000) Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families.

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8.

Pajukanta P et. al. (2001) Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL.

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9.

Huertas-Vázquez A et. al. (2004) Contribution of chromosome 1q21-q23 to familial combined hyperlipidemia in Mexican families.

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Update: Sept. 26, 2018