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351 Possible Causes for Mutation in the CALM2 Gene, Onset at Birth or in Early Childhood

  • 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]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    […] 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: Onset at Birth or in Early Childhood
  • Cesarean Section

    […] and support in early childhood are developed and provided for these potentially vulnerable children.[dx.doi.org] Nevertheless, there are instances where the spontaneous onset of labor occurs before 39 weeks or planned birth is unavoidable, and it is important that appropriate interventions[dx.doi.org]

    Missing: Mutation in the CALM2 Gene
  • Neuronal Ceroid Lipofuscinosis 4

    エントリ H00149 名称 神経セロイドリポフスチン症 下位グループ Santavuori-Haltia 病 [DS: H02277 ] Jansky-Bielschowsky 病 [DS: H02278 ] バッテン病 [DS: H02275 ] Kufs 病 [DS: H02276 ] カテプシンD 欠損 [DS: H02279 ] 上位グループ 進行性ミオクローヌスてんかん [DS: H00810 ] リソソーム蓄積症 (ライソゾーム病) [DS: H01425 ] 概要 神経セロイドポフスチン病 (NCL)[…][genome.jp]

    Missing: Mutation in the CALM2 Gene
  • Essential Tremor

    Unlike Parkinson’s, where the onset of the condition is rare before age 55, Essential Tremor can present at birth or during early childhood.[thehopenet.org]

    Missing: Mutation in the CALM2 Gene
  • Schizophrenia

    Although schizophrenia rarely manifests in early childhood, childhood factors influence disease onset in adulthood.[merckmanuals.com] These factors include Genetic predisposition Intrauterine, birth, or postnatal complications Viral CNS infections Childhood trauma and neglect Although many people with schizophrenia[merckmanuals.com]

    Missing: Mutation in the CALM2 Gene
  • Psychomotor Retardation

    Type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum[icd10data.com] ; xp) is late childhood onset with mild symptoms.[icd10data.com] Cockayne syndrome is classified by the severity and age of onset.[icd10data.com]

    Missing: Mutation in the CALM2 Gene
  • Catecholaminergic Polymorphic Ventricular Tachycardia 1

    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: Onset at Birth or in Early Childhood
  • 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: Onset at Birth or in Early Childhood
  • Intestinal Infarction

    Although more common in early childhood, the age at onset of symptoms ranges from birth to the 6th decade. 1 The disease is classified into two types, type I (glycolic aciduria[jcp.bmj.com]

    Missing: Mutation in the CALM2 Gene

Further symptoms