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85 Possible Causes for Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood, Reduced Pancreatic Beta Cells

  • Wolcott-Rallison Syndrome

    Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] [Crossref], [Web of Science ], [Google Scholar] ) showed that acute ablation of PERK results in reduced cell proliferation with abnormal insulin trafficking and secretion.[doi.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov]

  • DEND Syndrome

    These mutations cause diabetes through abnormal pancreatic development, beta cell dysfunction or accelerated beta cell destruction [1].[diapedia.org] beta cell, glucose metabolism results in increased intracellular levels of ATP and reduced levels of ADP.[nejm.org] NEUROD1, IER3IP1, MNX1, NEUROG3, NKX2-2, RFX6, GLIS3, PTF1A, PDX1 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott-Rallison syndrome, are the most[diapedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Laron Syndrome with Immunodeficiency

    pancreatic beta cells Premature skin wrinkling Posterior embryotoxon Carpal bone hypoplasia Hyperuricemia Radial deviation of finger Atlantoaxial dislocation Decreased hip[mendelian.co] In CentoMD , the world’s largest mutation database for rare diseases.[centogene.com] Slow-growing hair Renal tubular dysfunction Increased intraocular pressure Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Irregular vertebral endplates Overweight Reduced[mendelian.co]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Transient Neonatal Diabetes Mellitus

    By contrast, beta cell mass was normal or elevated at all postnatal stages, whereas pancreatic insulin content in neonates and peak serum insulin levels after glucose infusion[ncbi.nlm.nih.gov] The skeletal findings may develop later, however, and this condition is the result of mutations in EIF2AK3 at 2p12. 37 This gene is highly expressed in islet cells acting[jmg.bmj.com] ), and glucokinase gene [ 3, 4 ].[pancreas.imedpub.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Hypoglycemia

    If the tumor is malignant or cannot be operated on, certain medications may be able to suppress insulin release from the diseased pancreatic beta cells.[emedicinehealth.com] Special tests by the endocrinologist may assist the surgeon in removing less pancreatic tissue, reducing the risk of diabetes after surgery.[emedicinehealth.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Insulin Resistance

    Reducing pancreatic beta-cell activity b. Increasing the amount of glucose circulating in the blood c. Raising blood pressure d.[todaysdietitian.com] Fructose will generally produce smaller insulin excursions upon consumption because it does not stimulate the secretion of insulin from pancreatic beta cells, whereas glucose[doi.org] It is believed that the ability of the pancreatic beta cells to meet the demand posed by progressive insulin resistance ultimately reaches its limits.[doi.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Multiple Epiphyseal Dysplasia Type Al-Gazali

    In the long term, TNDM may reduce beta cell functional capacity and present a predisposition to type 2 diabetes mellitus. 2000 S.[karger.com] The result of the genetic testing reports a homozygous EIF2AK3 gene mutation in the patient and heterozygous mutation in both parents.[rmsjournal.org] Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. Diabetes 2002;51:2301–05. Crossref Google Scholar 13.[degruyter.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Diabetic Enteropathy

    […] autoimmune activity that destroys pancreatic beta cells.[vector.childrenshospital.org] Thus far, their mouse data indicate that the genetically engineered cells home to the pancreas, reduce abnormal immune-cell activity and reverse hyperglycemia, and that cells[hms.harvard.edu] Thus far, their mouse data indicate that the genetically engineered cells home to the pancreas, reduce abnormal immune-cell activity and reverse hyperglycemia (see abstract[vector.childrenshospital.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Diabetes Mellitus

    Reduced insulin exocytosis in human pancreatic beta-cells with gene variants linked to type 2 diabetes.[ncbi.nlm.nih.gov] They lower plasma glucose by stimulating pancreatic beta-cell insulin secretion and may secondarily improve peripheral and hepatic insulin sensitivity by reducing glucose[msdmanuals.com] The biguanides, unlike the SUs, do not stimulate insulin secretion by the pancreatic beta cells.[revespcardiol.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Chronic Kidney Insufficiency

    Amylin is secreted along with insulin by pancreatic beta-cells and levels are low in patients with diabetes.[clindiabetesendo.biomedcentral.com] It typically reduces A1c by 0.5–1.0 % [ 28 ] with a cost of about 400 for two of the 1.5 mL pens (1000 mcg/mL) [ 26 ].[clindiabetesendo.biomedcentral.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood