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63 Possible Causes for Most Patients Have Adult Onset of Symptoms, Mutation in the CALM2 Gene

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    The onset of symptoms can occur in childhood or adulthood; most patients have adult onset.[rarediseases.org] 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] Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms.[rarediseases.org]

  • Long QT Syndrome 15

    エントリ H00720 名称 QT 延長症候群 下位グループ ロマノワード症候群 ジャーベル・ランゲ・ニールセン症候群 [DS: H02091 ] 概要 QT 延長症候群は心電図の QT 間隔の異常な延長と失神発作を示す心血管障害である。他の疾患や薬物の影響で起こる後天性と、心筋細胞のイオンチャネルをコードする遺伝子の異常による先天性がある。発作のないときは無症状であるが、発作時はトルサド・ド・ポアンツ (Tdp) と呼ばれる心室性不整脈を特徴とし、適切な医療処置を行わないと心室細動に移行して死亡することもある。QT[…][genome.jp]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    […] that have been discovered and only represent a small percentage of CPVT cases are TRDN (encoding triadin) and CALM1 (encoding calmodulin). 5,6 Mutations in the CALM2 gene[doi.org] Genetic variants of CPVT include RyR2, CASQ2, CALM2, TRD, and possibly KCNJ2 and ANK2 gene mutations.[ncbi.nlm.nih.gov] Genetic variants of CPVT include RyR2 , CASQ2 , CALM2 , TRD , and possibly KCNJ2 and ANK2 gene mutations.[doi.org]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Long QT Syndrome

    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] […] to selectively suppress the mutant gene while sparing the wild-type counterparts.[ncbi.nlm.nih.gov]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Catecholaminergic Polymorphic Ventricular Tachycardia

    RYR2, CASQ2, KCNJ2 , ANK2, CALM1, CALM2, TRDN, SCN5A* Other Panels that Include this Diagnosis Notes on Genes: Priority Genes: These genes include 70% of the mutations that[admerahealth.com]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Meningoencephalitis

    PAM (Case 5) PAM is caused by Naegleria fowleri, with most patients having an acute onset of symptoms with rapid progression and almost always fatal meningoencephalitis within[ajnr.org] The affected patients are children and young adults with no immunologic compromise.[ajnr.org]

    Missing: Mutation in the CALM2 Gene
  • Jacksonian Seizure

    Seizures are the most common first (onset) symptom leading to a brain tumour diagnosis in adults.[thebraintumourcharity.org] Up to 60% of brain tumour patients will experience at least one seizure.[thebraintumourcharity.org] You are more likely to have a seizure if: you have a slow growing, low grade tumour if your tumour is in one of the lobes of the cerebrum (cerebral cortex) or the meninges[thebraintumourcharity.org]

    Missing: Mutation in the CALM2 Gene
  • Ventricular Arrhythmia

    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] LQT16LQT16 is caused by heterozygous mutations in the CALM3 (Calmodulin 3) gene (114183) on chromosome 19q13. LQTS is classified a form of channelopathy.[en.wikipedia.org]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Astroblastoma

    Seizures are the most common first (onset) symptom leading to a brain tumour diagnosis in adults.[thebraintumourcharity.org] Up to 60% of brain tumour patients will experience at least one seizure.[thebraintumourcharity.org] You are more likely to have a seizure if: you have a slow growing, low grade tumour if your tumour is in one of the lobes of the cerebrum (cerebral cortex) or the meninges[thebraintumourcharity.org]

    Missing: Mutation in the CALM2 Gene
  • Gitelman Syndrome

    Most patients with Gitelman's syndrome have onset of symptoms as adults, but some can present in childhood.[patient.info] Most patients have onset of symptoms as adults, but some can present in childhood. [ 8 ] Bartter's syndrome is rare.[patient.info] Epidemiology Gitelman's syndrome is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000).[patient.info]

    Missing: Mutation in the CALM2 Gene

Further symptoms