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2,933 Possible Causes for Autosomal Recessive, Cardiomyopathy

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] The most common complications of transfusional hemochromatosis are hepatic cirrhosis, hypopituitarism, hypogonadism, diabetes mellitus, other endocrinopathies, and cardiomyopathy[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]

  • Wolfram Syndrome

    Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome[ncbi.nlm.nih.gov] We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications.[ncbi.nlm.nih.gov] The Wolfram syndrome (WS) is an autosomal recessive disorder beginning in childhood that consists of four clinical features: diabetes insipidus, diabetes mellitus, optic atrophy[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    […] myopathy, hypertrophic cardiomyopathy and rare autosomal recessive limb girdle muscular dystrophy phenotypes.[ncbi.nlm.nih.gov] This is the first report showing the electron microscopic findings of dilated cardiomyopathy (DCM) accompanied with limb girdle muscular dystrophy.[ncbi.nlm.nih.gov] The report on the patients described here has widened the clinical spectrum associated with POMT1 mutations to include cardiomyopathy.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E

    Homepage Rare diseases Search Search for a rare disease Autosomal recessive limb-girdle muscular dystrophy type 2E Disease definition Autosomal recessive limb girdle muscular[orpha.net] Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.[rarediseases.info.nih.gov] Homepage Rare diseases Search Search for a rare disease Autosomal recessive limb-girdle muscular dystrophy type 2D Disease definition Autosomal recessive limb-girdle muscular[orpha.net]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C

    Homepage Rare diseases Search Search for a rare disease Autosomal recessive limb-girdle muscular dystrophy type 2C Disease definition Autosomal recessive limb-girdle muscular[orpha.net] Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle ( cardiomyopathy ), and respiratory abnormalities.[rarediseases.info.nih.gov] Patients may also experience cardiomyopathy and lung disease, and may develop scoliosis and joint contractures as the disease progresses.[sema4genomics.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2D

    Homepage Rare diseases Search Search for a rare disease Autosomal recessive limb-girdle muscular dystrophy type 2D Disease definition Autosomal recessive limb-girdle muscular[orpha.net] The progression of cardiomyopathy in α-sarcoglycanopathy was considered slow, since it had not reached the stage of dilated cardiomyopathy at the time of death.[moh-it.pure.elsevier.com] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I

    The LGMD type 2I has an autosomal recessive mode of inheritance and is characterized by a primary and progressive skeletal muscle degeneration of the pelvic and shoulder girdle[link.springer.com] Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy.[sema4genomics.com] autosomal recessive disorder caused by mutations in the Rabbit Polyclonal to EDNRA.[ece-inhibitor.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F

    Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.[nature.com] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ] .[pubs.sciepub.com] Inheritance is autosomal recessive. Belongs to the ferlin family. 15 isoforms of the human protein are produced by alternative splicing.[mybiosource.com]

  • 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] cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome[en.wikipedia.org] Acronym EDMD2 Synonyms Autosomal dominant Emery-Dreifuss muscular dystrophy Cardiomyopathy, dilated, with quadriceps myopathy EMD2 Hauptmann-Thannhauser muscular dystrophy[uniprot.org]

  • Mucopolysaccharidosis

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder.[ncbi.nlm.nih.gov] Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[ncbi.nlm.nih.gov]

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