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526 Possible Causes for Liver Phosphorylase Kinase Deficiency, Mutation in the CALM2 Gene

  • Phosphorylase Kinase Deficiency

    Lymphocyte phosphorylase kinase activities were measured in normal controls and in patients with the sex-linked form of liver phosphorylase kinase deficiency.[ncbi.nlm.nih.gov] 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] It is concluded that deficiency of phosphorylase kinase in liver of the patients is caused by the IVS4 1(g -- a) mutation.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    […] storage disease type IXa - Glycogen storage disease type IXc - Glycogenosis due to liver phosphorylase kinase deficiency - Glycogenosis type 9A - Glycogenosis type 9C - Glycogenosis[csbg.cnb.csic.es] 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] Type VIII (Liver phosphorylase kinase deficiency) Type IX (Liver and muscle phosphorylase kinase deficiency) Type X (cAMP dependent protein kinase A deficiency) There is hepatomegaly[edusanjalbiochemist.blogspot.com]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    PhK deficiency due to all these mutations leads to glycogen accumulation in the liver.[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] phosphorylase b kinase deficiency.[link.springer.com]

  • Long QT Syndrome

    Phosphorylase Kinase Deficiency Mrudu Herbert, Jennifer L Goldstein, Catherine Rehder, Stephanie Austin, Priya S Kishnani, and Deeksha S Bali.[ncbi.nlm.nih.gov] 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 Muscle Beta-Enolase Deficiency

    liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver phosphorylase[se-atlas.de] […] due to liver and muscle phosphorylase kinase deficiency Glycogenosis due to liver glycogen phosphorylase deficiency Glycogenosis due to liver phosphorylase kinase deficiency[orpha.net] 16 Cases 34587 Glycogen storage disease due to LAMP-2 deficiency 84 Cases 264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 1.0 BP * 137625 Glycogen[azkurs.org]

    Missing: Mutation in the CALM2 Gene
  • Ventricular Arrhythmia

    Phosphorylase Kinase Deficiency Mrudu Herbert, Jennifer L Goldstein, Catherine Rehder, Stephanie Austin, Priya S Kishnani, and Deeksha S Bali.[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] LQT14LQT14 is caused by heterozygous mutations in the CALM1 (Calmodulin 1) gene (114180) on chromosome 14q32.[en.wikipedia.org]

  • Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

    phosphorylase kinase deficiency Juvenile amyotrophic lateral sclerosis Myxofibrosarcoma Myxoid / round cell liposarcoma Translocation renal cell carcinoma X-linked intellectual[csbg.cnb.csic.es] Autosomal dominant hypohidrotic ectodermal dysplasia Frontotemporal dementia with motor neuron disease Giant cell glioblastoma Gliosarcoma Glycogen storage disease due to liver[csbg.cnb.csic.es]

    Missing: Mutation in the CALM2 Gene
  • Glycogen Storage Disease Type 0

    Type VIII (Liver phosphorylase kinase deficiency) Type IX (Liver and muscle phosphorylase kinase deficiency) Type X (cAMP dependent protein kinase A deficiency) There is hepatomegaly[edusanjalbiochemist.blogspot.com] phosphorylase kinase deficiency – Type IX Fanconi-Bickel syndrome – Type XI Lewis’ disease – Type 0 Who is at Risk?[babymed.com] Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr 1973;83:1031–4. Google Scholar 4.[degruyter.com]

    Missing: Mutation in the CALM2 Gene
  • Glycogen Storage Disease Type 6

    phosphorylase kinase deficiency.[ommbid.mhmedical.com] Classic GSD VI results from a primary deficiency of liver phosphorylase (PYGL).[checkorphan.org] A subset of patients with the autosomal recessive form of GSD VI due to deficiency of phosphorylase kinase activity may be at increased risk for liver cirrhosis.[humpath.com]

    Missing: Mutation in the CALM2 Gene
  • Glycogen Storage Disease Type 1

    Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr 1973;83:1031–4. Google Scholar 4.[degruyter.com] deficiency) Type IX (liver glycogen phosphorylase kinase deficiency) Since glycogen is primarily stored in the liver or muscle tissue, GSDs usually affect functioning of[mda.org.au] phosphorylase kinase deficiency.[ommbid.mhmedical.com]

    Missing: Mutation in the CALM2 Gene

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