Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Hyperlipämie

Die Hyperlipämie ist eine Fettstoffwechselstörung, die durch erhöhte Cholesterin- und/oder Triglyceridwerte gekennzeichnet ist.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Epigenetische Dyslipidämie
Hyperalphalipoproteinämie 1
Hyperalphalipoproteinämie 2
Hyperlipämie
Chylomikronämie
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomikronen-Retentions-Krankheit
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B
Familiäre kombinierte Hyperlipämie
Kombinierte familiäre Hyperlipämie mit Dysfunktion des Fettgewebes
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Kombinierte familiäre Hyperlipämie mit VLDL-Überproduktion
APOE
GCKR
OSBPL10
USF1
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1
Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9
Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
LDLR
Autosomal dominante Hypercholesterinämie 2
APOB
Autosomal dominante Hypercholesterinämie 3
PCSK9
Autosomal rezessive Hypercholesterinämie
LDLRAP1
Lp(a) Hyperlipoproteinämie
LPA
Veranlagung für hohes LDL-Cholesterin
HMGCR
Hypertriglyceridämie
APOA5
APOE
GPIHBP1
Kombinierter Lipasemangel
LMF1
LIPC
LIPE
LPL
Transiente infantile Hypertriglyceridämie
GPD1
Veranlagung für hohe Triglyceridwerte
ANGPTL4
Mangel an lysosomaler saurer Lipase
LIPA
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

Referenzen:

1.

Ito Y et al. (1990) Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice.

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2.

Allayee H et al. (1998) Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype.

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3.

Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia.

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4.

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

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5.

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

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6.

Wijsman EM et al. (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex.

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7.

Bredie SJ et al. (1997) Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity.

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8.

Masucci-Magoulas L et al. (1997) A mouse model with features of familial combined hyperlipidemia.

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9.

Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia.

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10.

Rotter JI et al. (1996) Multilocus genetic determinants of LDL particle size in coronary artery disease families.

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11.

Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia.

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12.

Chait A et al. (1983) Severe hypertriglyceridemia: role of familial and acquired disorders.

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13.

Kissebah AH et al. () Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression.

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14.

Rose HG et al. (1973) Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype.

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15.

None (1989) Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs.

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16.

Babirak SP et al. () Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.

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17.

Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.

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18.

Rauh G et al. (1990) Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia.

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19.

Nishina PM et al. (1992) Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19.

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20.

Wojciechowski AP et al. (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24.

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21.

van der Vleuten GM et al. (2004) Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia.

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22.

Pajukanta P et al. (2003) Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q.

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23.

Brunzell JD et al. (1976) Myocardial infarction in the familial forms of hypertriglyceridemia.

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24.

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

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25.

Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia.

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26.

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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27.

Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.

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28.

Goldstein JL et al. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.

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29.

Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

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30.

Putt W et al. (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

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31.

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

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32.

Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

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Update: 14. August 2020
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