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39 Possible Causes for Autosomal Dominant, Planar Xanthomas, Xanthoma

  • Familial Hypercholesterolemia

    xanthomas, and rapidly progressive coronary vascular disease that usually results in death before age 30 years.[ncbi.nlm.nih.gov] The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.[ncbi.nlm.nih.gov] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[ncbi.nlm.nih.gov]

  • Homozygous Familial Hypercholesterolemia

    On examination, he was found to have multiple planar and tendinous xanthomas, an (LDL) cholesterol level of 24.6 mmol/l and family history of hypercholesterolemia.[ncbi.nlm.nih.gov] Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands.[ncbi.nlm.nih.gov] Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor.[ncbi.nlm.nih.gov]

  • Hypercholesterolemia

    Planar xanthomas affecting the skin on the hands, elbows, buttocks and knees in a young child are diagnostic for this condition.[rarediseases.org] The xanthomas also regressed and disappeared by 3 years of age.[ncbi.nlm.nih.gov] RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[ncbi.nlm.nih.gov]

  • Heterozygous Familial Hypercholesterolemia

    Corneal arcus and planar, tendon, and tuberous xanthomas are present early in childhood and sometimes at birth.[emedicine.medscape.com] Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas.[ajronline.org] 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.[patientworthy.com]

  • Hypoalphalipoproteinemia

    […] may present from adolescence with a combination of the following symptoms: blurred vision due to corneal opacities or cataract tubero-eruptive, tendinous, palmar and/or planar[checkorphan.org] One patient actually showed complete regression of xanthelasma and extensor tendon xanthomas of the finger on the combination.[ncbi.nlm.nih.gov] The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.[ncbi.nlm.nih.gov]

  • Hyperlipoproteinemia Type 5

    , tendinous xanthoma and planar xanthoma (intertriginous and xanthelesma-like lesions).[ijdvl.com] […] common of the xanthomas.[namrata.co] Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Decreased HDL cholesterol concentration Decreased[rarediseases.info.nih.gov]

  • Hyperlipoproteinemia Type 4

    , tendinous xanthoma and planar xanthoma (intertriginous and xanthelesma-like lesions).[ijdvl.com] Type IV hyperlipoproteinemia occurred in 33.3 per cent, and the mode of inheritance was autosomal dominant with incomplete penetrance.[nejm.org] The defect is called autosomal dominant. This means that if one or both of your parents has the defective gene, you will likely develop the condition.[healthline.com]

  • Familial Hyperlipidemia

    Planar xanthomas affecting the skin on the hands, elbows, buttocks and knees in a young child are diagnostic for this condition.[rarediseases.org] Hyperchylomicronemia LPL or Apo-CII deficiency (Can't breakdown TGs and Chylomicrons) Elevations in TGs and chylomicrons Decreased levels of LDL and HDL Risk of pancreatitis and xanthomas[quizlet.com] […] 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[dovemed.com]

  • Hyperlipoproteinemia Type 2b

    A biopsy of cutaneous lesions suspected to be either planar or tuberous xanthomas will reveal cholesterol deposition. See Workup for more detail.[emedicine.medscape.com] IIb or III hyperlipoproteinemia Hypercholesterolemia with endogenous hyperglyceridemia Hyperbetalipoproteinemia with prebetalipoproteinemia Tubo-eruptive xanthoma Xanthoma[icd9data.com] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[doctor.am]

  • Hyperlipoproteinemia

    Planar xanthomas can be associated with myelomas, but usually in the setting of normal lipids.[ncbi.nlm.nih.gov] Initial radiographs suggested a primary bone neoplasm; however, an open biopsy established a diagnosis of intraosseous xanthoma.[ncbi.nlm.nih.gov] Hyperlipoproteinemia Type IV A hypertriglyceridemia disorder, often with autosomal dominant inheritance.[ncbi.nlm.nih.gov]

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