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skleróza tuberózna

  1. Subject h.skleróza tuberózna
    Subject h.Tuberous Sclerosis
    Entry termsBournevilleov syndróm
    Bournevillov syndróm
    Bournevilleov-Pringleov syndróm
    Bournevillov-Pringleov syndróm
    Bournevilleova-Pringleova choroba
    Bournevillova-Pringleova choroba
    Bournevilleova choroba
    Bournevillova choroba
    epiloia
    Bournevilleova fakomatóza
    skleróza mozgová
    sclerosis tuberosa
    komplex tuberóznej sklerózy
    adenoma sebaceum
    skleróza cerebrálna
    English X referencesBourneville Disease
    Epiloia
    Phakomatosis, Bourneville
    Scope note in EnglishAutosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
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    (1) - MeSH descriptor
    (8) - CiBaMed
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Number of the records: 1  

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