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1,527 Possible Causes for Autosomal Dominant, Hypercholesterolemia

  • Heterozygous Familial Hypercholesterolemia

    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.[] HeFH is the milder variant of familial hypercholesterolemia.[] In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth.[]

  • Familial Hypercholesterolemia

    Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[] PURPOSE OF REVIEW: Hypercholesterolemia (HC), or high cholesterol, is usually caused by diet, other health conditions, or inherited diseases, such as familial hypercholesterolemia[] Abstract Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[]

  • Hypercholesterolemia

    RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[] Civeira F; International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.[] Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive[]

  • Homozygous Familial Hypercholesterolemia

    Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor.[] […] heterozygous hypercholesterolemia.[] Familial hypercholesterolemia is an autosomal dominant disease in which the gene encoding the low density lipoprotein receptor is defective.[]

  • Diabetes Mellitus

    In autosomal dominant inheritance, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. Autosomal recessive.[] At baseline, no patients in the DCCT had hypertension or hypercholesterolemia, on the basis of the standards at the time, and only 5 percent had microalbuminuria (urinary[] More information about the genes that cause NDM and MODY, the types of mutations responsible for the disease (autosomal dominant, autosomal recessive, X-linked, etc.), and[]

  • Supravalvular Aortic Stenosis

    Supravalvular aortic stenosis (SVAS) may occur as an isolated autosomal dominant trait or as a feature of Williams syndrome.[] Patients with homozygous familial hypercholesterolemia exhibit severe hypercholesterolemia, cutaneous and tendon xanthomata, and premature atherosclerosis from childhood.[] Akcay, Sevinc (2016) Molecular consequences of elastin gene mutations in autosomal dominant cutis laxa and supravalvular aortic stenosis.[]

  • Familial Hyperlipidemia

    Answers Teaching Points Click Your Answer Below Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Would you like to access teaching points and more[] Familial hypercholesterolemia: The most common inherited type of hyperlipidemia (high lipid levels in the blood).[] Familial hypercholesterolemia is inherited in families in an autosomal dominant manner.[]

  • Liver Disease

    Besides, there was a rare association with autosomal dominant type of polycystic renal disease.[] Lipoprotein-X has several properties that make it anti-atherogenic, which raises the question if treatment for hypercholesterolemia should be initiated.[] It is an uncommon autosomal dominant disease. The cysts' diameters range from 20 to 30 cm to small microscopic nodules.[]

  • CADASIL Syndrome

    Serious hereditary diseases are rarely autosomal dominants as they tend to be self destructive by killing the affected person before he or she can reproduce.[] Medications for hypertension and hypercholesterolemia are also beneficial in patients with CADASIL syndrome.[] Symptomatic treatment can be offered to patients to treat migraines and potential concomitant vascular risk factors (hypertension, hypercholesterolemia and diabetes).[]

  • Hyperlipoproteinemia Type 2b

    Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[] , COMBINED HYPERLIPIDEMIA, VARIATE NORMAL DISTRIBUTIONS, PRIMARY HYPERCHOLESTEROLEMIA, SIMVASTATIN, LIPOPROTEINS, MULTICENTER, DISEASE, LIPIDS 312 Clinical medicine ID: 3300370[] Dominant 1 2 Deafness, Autosomal Dominant 10 3 Deafness, Autosomal Dominant 12 2 Deafness, Autosomal Dominant 13 2 Deafness, Autosomal Dominant 15 2 Deafness, Autosomal Dominant[]

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