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394 Possible Causes for Most Patients Have Adult Onset of Symptoms, Mutation in the CALM2 Gene, Onset at Birth or in Early Childhood

  • 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]

    Missing: 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Bartter's Disease

    The other form, often called the classical form, begins in early childhood and tends to be less severe.[ghr.nlm.nih.gov] Most patients with Gitelman's syndrome have onset of symptoms as adults, but some can present in childhood.[patient.info] […] and early childhood: Failure to grow and gain weight in an age appropriate manner Increased urine production and frequent urination Loss of salt in urine with resultant dehydration[dovemed.com]

    Missing: Mutation in the CALM2 Gene
  • Cockayne Syndrome

    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[connects.catalyst.harvard.edu] Adult-onset cases with prolonged survival and normal initial development have also been identified.[ncbi.nlm.nih.gov] 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]

    Missing: Mutation in the CALM2 Gene
  • Agammaglobulinemia

    Patients with reticular dysgenesis begin experiencing recurrent infections soon after birth. This ultimately leads to death in early infancy.[emedicine.com] Onset of symptoms is commonly in the first year of life although adult onset presentations have been reported.[invitae.com] The age of onset of adenosine deaminase (ADA) deficiency is variable. Most patients are diagnosed during infancy.[emedicine.com]

    Missing: Mutation in the CALM2 Gene
  • Hyponatremia

    Childhood-onset hypophosphatasia ranges from low bone mineral density with unexplained fractures to rickets.[orpha.net] Infantile hypophosphatasia is characterized by rickets developing between birth and six months of age.[orpha.net] Adult hypophosphatasia involves early loss of adult dentition and stress fractures of the lower extremities in middle age.[orpha.net]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • 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 Onset at Birth or in Early Childhood
  • Neonatal Adrenoleukodystrophy

    Clinical description NALD has an onset at birth or early infancy, but manifestations may be subtle enough that it is not diagnosed until late infancy or early childhood (or[orpha.net]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Cesarean Section

    […] and support in early childhood are developed and provided for these potentially vulnerable children.[pediatrics.aappublications.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[pediatrics.aappublications.org]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • 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 Onset at Birth or in Early Childhood