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361 Possible Causes for Autosomal Recessive, Conduction Disorder of the Heart

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life.[ncbi.nlm.nih.gov] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[ncbi.nlm.nih.gov]

  • Lafora Disease

    Lafora body disease is a rare neurometabolic disorder of autosomal recessive inheritance.[ncbi.nlm.nih.gov] Biopsy of skin cells is usually conducted in order to diagnose the disorder. 12. Lafora disease is always fatal. TABLE 2.[thefreelibrary.com] Most cases are caused by changes ( mutations ) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner.[rarediseases.info.nih.gov]

  • Retinitis Pigmentosa

    KEYWORDS: RP1; autosomal recessive retinitis pigmentosa; targeted NGS[ncbi.nlm.nih.gov] Other common symptoms include conduction block (in the heart) and ataxia.[mda.org] The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy

    Mucolipidosis III alpha/beta (ML III alpha/beta) is an autosomal recessive lysosomal storage disorder caused by N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase[ncbi.nlm.nih.gov] disorders.[doi.org] We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo-optic dysplasia.[ncbi.nlm.nih.gov]

  • Hemochromatosis-related Cardiomyopathy

    Etiology Two types of the disease have been described, both being transmitted in an autosomal recessive way.[orpha.net] Conduction disorders may present which require pacing, and standard heart failure therapy may be instituted in case of ventricular dilatation and functional impairment.[textbookofcardiology.org] Type 3 hemochromatosis is inherited as an autosomal recessive disorder.[themedicalbiochemistrypage.org]

  • Dilated Cardiomyopathy Type 2B

    In rare instances, this condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.[ghr.nlm.nih.gov] Dilatation of the heart cavities or conduction defects may occur. Sudden death may occur.[igm.cnr.it] […] paraplegia 50, autosomal recessive 612936 602296 Autosomal recessive AP4S1 14q12 Spastic paraplegia 52, autosomal recessive 614067 607243 Autosomal recessive AP5Z1 7p22.1[mnglabs.com]

  • Muscular Dystrophy

    Abstract The “distal myopathies” include autosomal dominant, autosomal recessive, and sporadic disorders.[link.springer.com] The progression of the disorder is slow. Heart defects including conduction abnormalities and dilated cardiomyopathy may occur.[rarediseases.org] Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition.[ghr.nlm.nih.gov]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    OBJECTIVE: To describe the clinical features of a novel variant of autosomal recessive lower motor neuron disease (LMND) with childhood onset and to map the disease-causing[ncbi.nlm.nih.gov] The progression of the disorder is slow. Heart defects including conduction abnormalities and dilated cardiomyopathy may occur.[rarediseases.org] Results: This novel variant of LMND with childhood onset and autosomal recessive mode of inheritance is characterized by a progressive symmetric and generalized involvement[neurology.org]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    Autosomal recessive inheritance means that both copies of the gene in each cell have mutations.[ghr.nlm.nih.gov] […] normal heart.[revespcardiol.org] […] disease (most common) Structural heart disease with disruption of normal conduction patterns (eg, nonischemic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy[emedicine.medscape.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Autosomal recessive (?)[ipfs.io] […] transplant may be needed for end stage heart failure [8] • Physical therapy [1] • Cardiac pacemaker or implantable cardioverter defibrillator for AV block and conduction[physio-pedia.com] Test Registry Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 DSMA4 611067 Genetic Test Registry Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 DSMA5 614881[ukgtn.nhs.uk]

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