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113 Possible Causes for Death Usually by 1 Year of Age, Mutation in the VPS53 Gene

  • Autosomal Recessive Primary Microcephaly Type 10

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age.[ncbi.nlm.nih.gov] MCPH10 is characterized by extremely small head size and death usually by 1 year of age.[genecards.org]

  • Cardiomyopathy

    […] after 30 years of age. 1, 2 Notably, the clinical presentation and course are diverse, with unexpected sudden death in the young the most visible disease complication.[doi.org] […] sarcomere mutations is obligatory for the clinical diagnosis of HCM. 2 Atrial fibrillation is a common cause of morbidity in HCM, occurring in 20% of patients, although usually[doi.org]

    Missing: Mutation in the VPS53 Gene
  • Uremic Pneumonitis

    65 years Scores can be used as follows: 0 or 1 points: Risk of death is 3%.[merckmanuals.com] Outpatient therapy is usually appropriate. 2 points: Risk of death is 9%. Hospitalization should be considered. 3 points: Risk of death is 15 to 40%.[merckmanuals.com] […] following risk factors: C onfusion U remia (BUN 19 mg/dL [6.78 mmol/L]) R espiratory rate 30 breaths/min Systolic B lood pressure 90 mm Hg or diastolic blood pressure 60 mm Hg Age[merckmanuals.com]

    Missing: Mutation in the VPS53 Gene
  • Familial Papillary Thyroid Carcinoma with Papillary Renal Cell Carcinoma

    […] thyroid cancer in the United States Predominant age: usually 40 years old Predominant sex: female male (3:1) prevalence Lifetime risk of developing thyroid cancer is 1.2%[unboundmedicine.com] Epidemiology Incidence: 14.5/100,000 per year in the United States Deaths: 0.5/100,000 per year in the United States In 2018, estimated 53,990 new cases and 2,060 deaths from[unboundmedicine.com]

    Missing: Mutation in the VPS53 Gene
  • Chronic Kidney Disease

    These doubts usually concern ‘frail’ patients, i.e. elderly people over 65 years of age, at greater risk of death or functional decline within a relatively short time [ 2[doi.org] […] will genuinely gain or whether dialysis may be futile or even significantly worsen their quality of life (Qol), or be tantamount to over-medicalizing the dying process [ 1[doi.org]

    Missing: Mutation in the VPS53 Gene
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 5

    The age of CPVT onset is usually before 10 years, although the much later onset has been reported [4].[austinpublishinggroup.com] [1–4].[austinpublishinggroup.com] […] arrhythmia syndrome characterized by ventricular tachyarrhythmia induced by adrenergic stress in the absence of structural heart disease and high incidence of sudden cardiac death[austinpublishinggroup.com]

    Missing: Mutation in the VPS53 Gene
  • Thyroid Cancer

    This tumor usually occurs in an older age group and is characterized by extensive local invasion and rapid progression. [ 1 ] Five-year survival with this tumor is poor.[web.archive.org] This tumor usually occurs in an older age group and is characterized by extensive local invasion and rapid progression.[ 1 ] Five-year survival with this tumor is poor.[cancer.gov] Death is usually from uncontrolled local cancer in the neck, usually within months of diagnosis.[web.archive.org]

    Missing: Mutation in the VPS53 Gene
  • Catecholaminergic Polymorphic Ventricular Tachycardia

    The age of CPVT onset is usually before 10 years, although the much later onset has been reported [4].[austinpublishinggroup.com] [1–4].[austinpublishinggroup.com] […] arrhythmia syndrome characterized by ventricular tachyarrhythmia induced by adrenergic stress in the absence of structural heart disease and high incidence of sudden cardiac death[austinpublishinggroup.com]

    Missing: Mutation in the VPS53 Gene
  • Familial Papillary or Follicular Thyroid Carcinoma

    This tumor usually occurs in an older age group and is characterized by extensive local invasion and rapid progression.[ 1 ] Five-year survival with this tumor is poor.[cancer.gov] Death is usually from uncontrolled local cancer in the neck, usually within months of diagnosis.[cancer.gov]

    Missing: Mutation in the VPS53 Gene
  • Medullary Thyroid Carcinoma

    This tumor usually occurs in an older age group and is characterized by extensive local invasion and rapid progression.[ 1 ] Five-year survival with this tumor is poor.[cancer.gov] Death is usually from uncontrolled local cancer in the neck, usually within months of diagnosis.[cancer.gov]

    Missing: Mutation in the VPS53 Gene

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