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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[ncbi.nlm.nih.gov] Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple[ncbi.nlm.nih.gov] Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis.[ncbi.nlm.nih.gov]

  • Lipodystrophy

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

  • Hyperlipoproteinemia Type 5

    […] 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] […] plasma vldl plasma triglycerides persistently increased plasma cholesterol and phospholipids usually normal Metabolic: abnormal glucose tolerance Misc: phenotype environmentally[malacards.org]

  • Hypercholesterolemia

    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] […] plasma glucose levels and impaired insulin secretion.[jamanetwork.com]

  • 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] Symptoms - Familial hyperlipoproteinemia type 4 * Increased very low density lipoproteins * Increased triglycerides * Early atherosclerosis * Abnormal glucose tolerance *[checkorphan.org]

  • Hyperlipoproteinemia Type 3

    […] common of the xanthomas.[namrata.co] […] recessive or autosomal dominant condition (that is, if the trait has been inherited from both parents).[britannica.com] 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[mdpi.com]

  • Familial Hypercholesterolemia

    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] 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[diapedia.org]

  • 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[ncbi.nlm.nih.gov] dominant skin condition, characterized by an extreme paucity of fat in the… … Wikipedia[medicine.academic.ru] 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.[ncbi.nlm.nih.gov]

  • Homozygous Familial Hypercholesterolemia

    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] 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[intechopen.com]

  • Hyperlipoproteinemia Type 2b

    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] Those with familial combined hyperlipidemia have an increased risk of early coronary artery disease and heart attacks.[medlineplus.gov]

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