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297 Possible Causes for Mutation in the CALM2 Gene, Variable Hypoglycemia

  • Glycogen Storage Disease Type 6

    Individuals with GSD VI typically exhibit hepatomegaly, growth retardation, and variable but mild episodes of fasting hypoglycemia and hyperketosis during early childhood.[emedicine.medscape.com] 1 The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. ( 28245189 ) 2017 2 Pediatric patient with hyperketotic hypoglycemia diagnosed[malacards.org] ..Takatani T. 2010 4 A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. ( 20051115 ) Soggia A.P....Pereira M.A. 2010 5 The variable[malacards.org]

    Missing: Mutation in the CALM2 Gene
  • Long QT Syndrome

    Penetrance is variable.[nature.com] RESULTS: A novel de novo CALM2 mutation (D132H) was discovered by candidate gene screening in a male infant with prenatal bradycardia born to healthy parents.[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    Fast-induced hypoglycemia and hyperlipidemia are variable and, if present, are generally mild. Adults are generally asymptomatic.[orpha.net] There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] We found that there is variability in the severity of clinical features, including hypoglycemia and growth.[link.springer.com]

  • Ventricular Arrhythmia

    No direct correlation could be found among different variables of glucose profile, corrected QT interval, and ventricular arrhythmias.[care.diabetesjournals.org] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] CONCLUSIONS Our results suggest that severe episodes of hypoglycemia are associated with an increased risk of severe ventricular arrhythmias. Received March 24, 2013.[care.diabetesjournals.org]

  • Glycogen Storage Disease Type 9

    Fast-induced hypoglycemia and hyperlipidemia are variable and, if present, are generally mild. Adults are generally asymptomatic.[orpha.net] There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. There is no hyperlactic acidemia or hyperuricemia.[ommbid.mhmedical.com]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. There is no hyperlactic acidemia or hyperuricemia.[ommbid.mhmedical.com] There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] […] but often after cessation of nighttime feedings or intercurrent illness Clinical features: Fasting hypoglycemia and ketosis, postprandial lactic acidosis Treatment: Frequent[msdmanuals.com]

  • Hypoglycemia

    Glycemic variability portends increased risk for hypoglycemia and should be a focus of further research.[ncbi.nlm.nih.gov] Continuous monitoring of glycemia due to the ability to show glycemia variability and unrecognized hypoglycemia as well as predictive options for long-term metabolic control[ncbi.nlm.nih.gov] Although the incidence of hypoglycemia was variable among patients on different treatment regimens, there were substantial impacts on both productivity and healthcare utilization[ncbi.nlm.nih.gov]

    Missing: Mutation in the CALM2 Gene
  • Insulin Resistance

    Armen, Simulation and qualitative analysis of glucose variability, mean glucose, and hypoglycemia after subcutaneous insulin therapy for stress hyperglycemia, Theoretical[doi.org] Glucose was infused at variable rate to maintain euglycemia in study 1, whereas hypoglycemia (3.2 0.1 mmol/l) was allowed to occur in studies 2–4.[doi.org]

    Missing: Mutation in the CALM2 Gene
  • Diabetes Mellitus

    Associated Complications: CNS : retinopathy, peripheral neuropathies , and autonomic neuropathy (decreased heart rate variability, orthostatic hypotension, gastroparesis,[openanesthesia.org] […] by these variables to determine associations of hypoglycemic episodes with dementia risk among patients without a stroke, those without end-stage renal disease, and those[doi.org] This finding underscores the need to avoid not only severe hypoglycemic episodes, but also protracted phases of hypoglycemia and high blood-sugar variability, particularly[aerzteblatt.de]

    Missing: Mutation in the CALM2 Gene
  • Growth Failure

    Potential for future growth in infants with IUGR is variable and depends on the etiology.[hawaii.edu] A neonatal history that includes hypoglycemia, prolonged jaundice, or microphallus should raise suspicions of hypopituitarism.[hawaii.edu]

    Missing: Mutation in the CALM2 Gene

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