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1,698 Possible Causes for Autosomal Recessive, Cardiac Arrhythmia

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] Rosing, Incidence of Cardiac Arrhythmias in Asymptomatic Hereditary Hemochromatosis Subjects With C282Y Homozygosity, The American Journal of Cardiology, 109, 6, (856), (2012[doi.org] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

    Synonyms English : Autosomal Dominant Emery Dreifuss Muscular Dystrophy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Autosomal Recessive Emery Dreifuss Muscular Dystrophy[decs.bvs.br] A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this.[scielo.br] Dystrophy, Emery-Dreifuss, Autosomal Recessive — Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive — Emery Dreifuss Muscular Dystrophy, Autosomal Recessive[mesh.kib.ki.se]

  • Friedreich Ataxia

    Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart.[ncbi.nlm.nih.gov] Prognosis and Complications Death in adolescence most commonly due to cardiac arrhythmia a sequlae of hypertrophic cardiomyopathy Please rate topic.[step1.medbullets.com] recessive, neurodegenerative disorder that affects roughly 1 in every 50–100000 people in the United States.[doi.org]

  • Wilson Disease

    Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2 ) transporting polypeptide[ncbi.nlm.nih.gov] Cardiac arrhythmias and cardiomyopathy can occur. Hypoparathyroidism. Pancreatitis. Infertility.[patient.info] Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain.[ncbi.nlm.nih.gov]

  • Primary Hyperoxaluria

    Primary hyperoxaluria is an autosomal recessive disease, meaning both copies of the gene contain the mutation.[en.wikipedia.org] The following are some of the complications of Primary Hyperoxaluria: Chronic kidney disease End-stage kidney disease Cardiac arrhythmia and stroke Peripheral gangrene Note[dovemed.com] Abstract Primary hyperoxaluria type-1 (PH-1) is a rare autosomal recessive metabolic disorder leading to excessive oxalate production, deposition of calcium oxalate crystals[ncbi.nlm.nih.gov]

  • Long QT Syndrome

    cardiac arrhythmias such as long QT interval syndrome and torsades de pointes.[ncbi.nlm.nih.gov] Conclusions: Deep human HFE genealogies show HFE to be associated with other genetic disorders like Wilson s disease, LQTS, JLNS, and autosomal recessive hearing loss.[ncbi.nlm.nih.gov] Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC).[ncbi.nlm.nih.gov]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    There has been a significant progress in our understanding of the molecular mechanisms by which calcium (Ca2 ) ions mediate various types of cardiac arrhythmias.[ncbi.nlm.nih.gov] The autosomal recessive form of CPVT is caused by mutations in the CASQ2 gene.[ncbi.nlm.nih.gov] This is the second report of such a CPVT of autosomal recessive inheritance.[ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    CS is a rare autosomal recessive disorder of the group of DNA repair diseases.[ncbi.nlm.nih.gov] Cockayne syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child.[ncbi.nlm.nih.gov] Cockayne Syndrome is a congenital autosomal recessive condition that has been categorized as rare.[symptoma.com]

  • Cystic Fibrosis

    Reductions in Sp O 2 can occur during sleep in children with CHD, independent of whether they have PH, sleep disturbances, or significant arrhythmias ( 101 ).[doi.org] From Wikidata Jump to navigation Jump to search autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.[wikidata.org] Abstract Cystic fibrosis is an autosomal recessive disease with a prognosis determined by the extent of pulmonary lesions.[ncbi.nlm.nih.gov]

  • Thalassemia

    , MUE-431, San Francisco, CA 94143-1354, USA. 3 Department of Biomedical Sciences, Faculty of Health and Medical Sciences, Danish National Research Foundation Centre for Cardiac[ncbi.nlm.nih.gov] Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis.[ncbi.nlm.nih.gov] Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[ncbi.nlm.nih.gov]

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