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722 Possible Causes for Autosomal Recessive, Cardiomyopathy, Microcytic Anemia

  • Hereditary Spherocytosis

    […] spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive[] Non-compaction cardiomyopathy was initially described in paediatric patients.[] anemia of varying degree. [3] Uraninite is a radioactive, uranium-rich mineral and ore with a chemical composition that is largely UO2, but also contains UO3 and oxides of[]

  • Thalassemia

    Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[] Expression of cell adhesion molecules in dilated cardiomyopathy: evidence for endothelial activation in inflammatory cardiomyopathy. Circulation. 1999 ; 99 :2124–2131.[] Note : Thalassemia is a microcytic, hypochromic anemia. Its cause is a genetically based decreased synthesis of one or several globin chains.[]

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] Lenihan, Infiltrative Cardiomyopathy and Pericardial Disease, Seminars in Oncology, 40, 2, (199), (2013). Hussam Ghoti, Eliezer A.[] A(hypo)transferrinemia is an extremely rare autosomal recessive disorder of iron overload characterized by severe microcytic anemia [ 9 ], which was not present in this patient[]

  • Sideroblastic Anemia

    Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene[] X-linked nuclear-encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy[] The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life.[]

  • Carnitine Deficiency

    The marked heterogeneity of carnitine deficiency states within one family, where both parents had low muscle carnitine levels, suggests an autosomal recessive inheritance[] […] an important cause of cardiomyopathy in humans.[] RESULTS: She had hypochromic microcytic anemia and the serum CPK level was elevated. Cardiothoracic index was increased (0.62).[]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    Estimate of the proportion of the Duchenne muscular dystrophy with autosomal recessive inheritance.[] An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.[] Anemia 1 Microphthalmia Syndromic 3 9 Microphthalmia Syndromic 5 5 Microphthalmia Syndromic 6 2 Microphthalmia Syndromic 7 1 Microphthalmia Syndromic 9 1 Microphthalmia With[]

  • Dilated Cardiomyopathy 1R

    In rare instances, this condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.[] Additional features include optic atrophy, a mild increase in hepatic enzymes with microvesicular hepatic steatosis, a normochromic microcytic anemia, and mild to borderline[] Laboratory findings show a hypochrome microcytic anemia (Hg 6.6 gr/dL), hypoalbuminaemia (27 g/L), hypertransaminasemia (ALT 448, AST 114 ij/L), high creatine phosphokinase[]

  • Gaucher Disease

    recessive.[] The inability to catabolize GL-3 can lead to renal failure, cardiomyopathy, and cerebrovascular accidents. The estimated incidence of Fabry disease is 1 in 40,000 males.[] […] hypochromic anemia, International Journal of Hematology, 10.1007/s12185-018-2559-3, (2018).[]

  • Dilated Cardiomyopathy Type 2B

    recessive dilated cardiomyopathy. 8 71 Theis JL...Olson TM 21965549 2011 Expression for Cardiomyopathy, Dilated, 2b Search GEO for disease gene expression data for Cardiomyopathy[] CARDIOMYOPATHY, DILATED, 1V CARDIOMYOPATHY, DILATED, 1W CARDIOMYOPATHY, DILATED, 1Y CARDIOMYOPATHY, DILATED, 1Z CARDIOMYOPATHY, DILATED, 2A CARDIOMYOPATHY, DILATED, 2B CARDIOMYOPATHY[] Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic[]

  • Autosomal Recessive Primary Microcephaly Type 10

    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.[] , Dilated, 1ee MYH6 Cardiomyopathy, Dilated, 1g TTN Cardiomyopathy, Dilated, 1y TPM1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 Cardiomyopathy, Familial Hypertrophic, 14[] Microcornea-myopic chorioretinal atrophy- telecanthus syndrome 14 Cases 231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 8 Cases 83642 Microcytic[]

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