Create issue ticket

399 Possible Causes for Autosomal Dominant, Glucose Increased, Xanthoma

  • Familial Partial Lipodystrophy

    Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome[] Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple[] Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis.[]

  • Lipodystrophy

    Patients may also present with dermatologic manifestations like eruptive xanthomas, hirsutism, and thick, curled scalp hair.[] Congenital analbuminaemia is a very rare autosomal dominant disorder in which patients have no serum albumin and markedly low serum total protein concentration.[] […] and triglycerides ( hyperlipidemia ) Increased blood sugar or glucose levels (hyperglycemia) Insulin resistance or diabetes Increased lactic acid in your blood Metabolic[]

  • Hyperlipoproteinemia Type 5

    […] common of the xanthomas.[] Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Decreased HDL cholesterol concentration Decreased[] […] plasma vldl plasma triglycerides persistently increased plasma cholesterol and phospholipids usually normal Metabolic: abnormal glucose tolerance Misc: phenotype environmentally[]

  • Hypercholesterolemia

    The xanthomas also regressed and disappeared by 3 years of age.[] RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[] […] plasma glucose levels and impaired insulin secretion.[]

  • Hyperlipoproteinemia Type 4

    , tendinous xanthoma and planar xanthoma (intertriginous and xanthelesma-like lesions).[] Type IV hyperlipoproteinemia occurred in 33.3 per cent, and the mode of inheritance was autosomal dominant with incomplete penetrance.[] Symptoms - Familial hyperlipoproteinemia type 4 * Increased very low density lipoproteins * Increased triglycerides * Early atherosclerosis * Abnormal glucose tolerance *[]

  • Hyperlipoproteinemia Type 3

    […] common of the xanthomas.[] […] recessive or autosomal dominant condition (that is, if the trait has been inherited from both parents).[] Omega-3 Fatty Acids Omega-3 fatty acids (consisting of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA)) probably lower TG by increasing glucose flux to glycogen[]

  • Familial Hypercholesterolemia

    The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.[] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[] The following features are associated with type 2 diabetes, often preceding the stage at which blood glucose levels have risen into the diabetic range: Increased triglycerides[]

  • Generalized Lipodystrophy

    We report a 3-month-old Taiwanese boy with initial presentation of a lack of subcutaneous fat, prominent musculature, generalized eruptive xanthomas, and extreme hypertriglyceridemia[] dominant skin condition, characterized by an extreme paucity of fat in the… … Wikipedia[] Her levels returned to near normal only with extremely high doses of insulin (up to 1,700 units/d) and increased doses of leptin and metformin.[]

  • Homozygous Familial Hypercholesterolemia

    Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands.[] Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor.[] However, this increase was not accompanied by changes in patient weight, plasma glucose, or HbA1c, suggesting that there is no associated increased risk of metabolic syndrome[]

  • Hyperlipoproteinemia Type 2b

    IIb or III hyperlipoproteinemia Hypercholesterolemia with endogenous hyperglyceridemia Hyperbetalipoproteinemia with prebetalipoproteinemia Tubo-eruptive xanthoma Xanthoma[] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[] Those with familial combined hyperlipidemia have an increased risk of early coronary artery disease and heart attacks.[]

Similar symptoms