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611 Possible Causes for Autosomal Dominant, LDL Increased

  • Hypercholesterolemia

    Abstract: Familial hypercholesterolemia (FH) is an inherited metabolic disorder characterized by high levels of plasma low density lipoproteins (LDL) and an increased risk[] RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[] Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive[]

  • Heterozygous Familial Hypercholesterolemia

    Low-density-lipoprotein (LDL) cholesterol decreased 55 per cent with colestipol and niacin, whereas highdensity-lipoprotein (HDL) cholesterol increased.[] HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited.[] In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth.[]

  • Familial Hypercholesterolemia

    LDL, decreased HDL, increased triglycerides Alcohol excess Increased triglycerides, increased HDL Cholestasis Increased LDL, increased total chol Diabetes Mellitus Hyperlipidaemia[] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[] Abstract Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[]

  • Homozygous Familial Hypercholesterolemia

    This mutation can lead to increased serum LDL, and subsequently to premature coronary artery disease.[] Familial hypercholesterolemia is an autosomal dominant disease in which the gene encoding the low density lipoprotein receptor is defective.[] […] in extremely elevated plasma LDL cholesterol (LDL-C) and increased risk of atherosclerosis, coronary heart disease, and premature death.[]

  • Hyperlipoproteinemia Type 2b

    From More Specific Terms familial combined hyperlipidemia Etiology familial form ( familial combined hyperlipidemia ) defect in LDL receptor Laboratory increase in LDL cholesterol[] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[] Type 1- hyperchylomicronemia- increased chylomicrons due to lipoprotien lipase defficiency Type 2a- Hypercholesterolemia- increased LDL due to decreased LDL receptors Type[]

  • Growth Hormone Deficiency

    […] in rate of fracture in middle age and beyond changes in blood cholesterol concentrations (increase in LDL and decrease in HDL) excessive tiredness anxiety and depression[] dominant form of PHP-Ib (AD-PHP-Ib) accompanied by an STX16 microdeletion and an isolated loss of methylation (LOM) at exon A/B-DMR.[] METHODS: GH1 was sequenced in 3 Caucasian families with a clinical autosomal dominant IGHD.[]

  • Familial Hyperlipidemia

    […] clearance of LDL; increased production of VLDL Increased levels of LDL and VLDL Increased cholesterol and TGs Increased risk of atherosclerosis and coronary disease Familial[] […] with FCH Chromosome locus (specific region) 1q21-q23 has been linked to FCH APOA5 gene association with APOA1/CIII/AIV has also been linked to FCH Autosomal dominant: Autosomal[] In patients with type 4 hyperlipoproteinemia, gemfibrozil alone reduced triglycerides by 40%, raised HDL-cholesterol by 26%, and increased LDL-cholesterol levels by 29%.[]

  • Coronary Atherosclerosis

    Increased LDL levels were observed over time in patients with the -7673G A polymorphism of the ApoB gene.[] Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34, 154–156 (2003). 16. Garcia, C. K. et al.[] As originally reported by Abifadel et al, 47 gain-of-function mutations in PCSK9 cause autosomal dominant familial hypercholesterolemia.[]

  • Arteriosclerosis

    These fats actually help to lower LDL and increase levels of HDL the good cholesterol. These fats come from oily fish such as salmon, tuna and trout.[] Familial hypercholesterolemia Familial hypercholesterolemia is an autosomal dominant disorder caused by a defect in the gene for the hepatic LDL receptor.[] Interestingly, a single amino acid mutation in the NALP-3 gene has been reported in humans with Muckle-Wells syndrome, a rare autosomal dominant disease characterized by recurrent[]

  • Hypobetalipoproteinemia

    Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulation of cholesterol homeostasis, increasing the low-density lipoprotein (LDL) receptor[] These findings are compatible with autosomal dominant transmission of hypobetalipoproteinemia and autosomal recessive transmission of afibrinogenemia.[] Familial hypobetalipoproteinemia (FHBL), an autosomal dominant disorder, is defined as 5th percentile LDL-cholesterol or apolipoprotein (apo) B in the plasma.[]

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