Create issue ticket

361 Possible Causes for Autosomal Dominant, Insulin Increased, Xanthoma

  • Familial Partial Lipodystrophy

    CONCLUSION/INTERPRETATION: The combination of BMI  27 kg/m(2) and the use of 100 U insulin/day increases the chance of identifying lipodystrophy.[ncbi.nlm.nih.gov] 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]

  • Lipodystrophy

    The higher levels of insulin may increase fat accumulation.[thewellproject.org] 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]

  • Hypercholesterolemia

    Women with mild hypercholesterolemia had a higher BMI and their fasting insulin was increased as well as indices of insulin resistance [Homeostatic model assessment (HOMA)[ncbi.nlm.nih.gov] 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]

  • Hyperlipoproteinemia Type 4

    With increasing insulin deficiency, liver steatosis and the more common type 4 hyperlipoproteinemia pattern may progress to fatty liver hepatitis and type 5 hyperlipoproteinemia[journals.lww.com] , 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]

  • Familial Hypercholesterolemia

    Excess EtOH- increased VLDL production OCPs- increased VLDL production DM- decreased LPL due to decreased insulin A standing chylomicron test distinguishes which lipoprotein[brainscape.com] 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]

  • Generalized Lipodystrophy

    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] 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]

  • Hyperlipoproteinemia Type 2b

    Moreover, among 1,733 nondiabetic men with CHD in VA-HIT, increased plasma fasting insulin, as well as insulin resistance assessed by the homeostasis model assessment of insulin[care.diabetesjournals.org] 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]

  • Pheochromocytoma-Islet Cell Tumor Syndrome

    1 diabetes mellitus1型糖尿病 u underweight低体重 urinary glucose 尿糖 urinary microalbumin尿中微量アルブミン v vanillyl mandelic acid (VMA)バニーリルマンデリック酸 w weight gain体重増加 weight loss体重減少 x xanthoma[tokyo-med.ac.jp] It was inherited in an autosomal dominant manner but could not be related to a pathogenic mutation.[symptoma.com] Heritability: Autosomal dominant inheritance AKA: pheochromocytoma--islet cell tumor syndrome, pheochromocytoma-islet cell tumor syndrome, pheochromocytoma and islet cell[monarchinitiative.org]

  • Familial Hyperlipidemia

    HDL levels, and insulin resistance. 12 We show that FCH subjects (groups I, II, and III) have an increased apoB level and more small dense LDL (low value of parameter K )[atvb.ahajournals.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]

  • Diabetes Mellitus

    […] frequency of insulin-dependent diabetes in several countries is best explained today by the decline of infections.[dx.doi.org] […] weight loss (often masked by being overweight) Other manifestations include: diabetic dermopathy: e.g. granuloma annulare, necrobiosis lipoidica diabeteticorum, eruptive xanthoma[radiopaedia.org] In autosomal dominant inheritance, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. Autosomal recessive.[web.archive.org]

Similar symptoms