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16 Possible Causes for Autosomal Dominant, Insulin C-Peptide 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] Xanthoma and nail changes may occur. Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date.[en.wikipedia.org]

  • 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] Eruptive xanthomas are not frequent. In the literature, there are several reports of umbilical hernia in patients with BSCL [ 12 , 22 ].[dmsjournal.biomedcentral.com]

  • 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] Patients can also present with dermatological manifestations such as eruptive xanthomas, hirsutism and thick, curled scalp hair.[symptoma.com]

  • Islet Cell Tumor

    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] A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal dominant hereditary syndrome.[genome.jp] C-peptide elevated serum insulin level increased gastrin level positive secretin stimulation test for pancreas elevated fasting glucose level elevated serum glucagon level[medicine.georgetown.edu]

  • Hereditary Neonatal Hyperparathyroidism

    […] mg/dL ( 6 mmol/L) in a child or child family member(s) Footnotes ** ); or Premature clinical CHD Footnotes *** in the subject or family member(s) Footnotes ** ; or Tendon xanthomas[aetna.com] Hyperparathyroidism was found in their father, suggesting autosomal dominant inheritance. The disease is fatal unless recognized early and treated.[ncbi.nlm.nih.gov] The pancreas ß cells may then be progressively destroyed, leading to C-peptide negative diabetes and requiring insulin therapy besides iron depletion.[ojrd.biomedcentral.com]

  • Diabetes Mellitus

    […] 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] In sub-group analyses of non-insulin users, hepatic insulin extraction was assessed by the plasma C-peptide-to-insulin ratio, which was significantly increased in the dapagliflozin[ncbi.nlm.nih.gov]

  • Acquired Generalized Lipodystrophy

    […] regression of xanthomas on arms and legs, and sufficient reduction in size and tenderness of xanthomas on her fingers to allow her to resume playing the piano ( Fig. 3 ).[doi.org] Familial partial lipodystrophy spares the face and is inherited as an autosomal dominant disorder (half of the children of an affected individual will also be affected).[dermnetnz.org] A basal C-peptide concentration is rather high. Definitely, the endogenous insulin secretion is increased. In other words, insulin resistance is documented.[doi.org]

  • Insulin-Resistance Syndrome Type B

    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] Heterozygous mutations in AKT2, ZMPSTE24 and PLIN1 (FPLD4) have also been reported in patients with autosomal dominant FPLD and one patient with autosomal recessive PLD was[diapedia.org] Fasting C-peptide concentration was normal and increased adequately in glucagon stimulation test (0′ 2.87 ng/ml, 6′ 4.56 ng/ml).[endocrine-abstracts.org]

  • Suprasellar Tumor

    . : Bilateral intracranial fibrous xanthoma. Surg. Neurol. 29 , 27–31 (1988). PubMed Google Scholar 14).[link.springer.com] Coverage includes separate chapters on autism, autosomal recessive ataxias, and autosomal dominant ataxias, and new chapters on endovascular neuroradiology, parkinsonian syndromes[books.google.es] He has raised leptin but also insulin resistance with elevated insulin (427 pmol/l) and C-peptide ( 3000 pmol/L). Fasting glucose is normal (Table 1).[journals.lww.com]

  • Diabetes Mellitus Type 1

    […] shifts and nerve cell dysfunction; this along with poor vascular perfusion to nervous system tissue causes diabetic neuropathy Other Systemic Issues: Impaired wound healing Xanthomas[physio-pedia.com] Type 2 diabetes mellitus has a strong inheritance pattern that can suggest autosomal dominant inheritance.[clinicaladvisor.com] Increases have been measured up to 37% during the first year of diagnosis, while c-peptide levels (indicative of islet-derived insulin), decline by up to 45%.[39] Insulin[en.wikipedia.org]

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