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von Hippelova-Lindauova choroba

  1. Subject h.von Hippelova-Lindauova choroba
    Subject h.von Hippel-Lindau Disease
    Entry termsangiomatóza cerebeloretinálna familiárna
    Lindauova choroba
    Hippelova-Lindauova choroba
    Hippel-Lindauova choroba
    angiomatosis retinae
    angiomatosis retinocerebellosa
    von Hippelov-Lindauov syndróm
    VHL syndróm
    English X referencesCerebelloretinal Angiomatosis, Familial
    Lindau Disease
    Scope note in EnglishAn autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.
    Links (18) - ARTICLES
    (1) - CiBaMed
    (5) - BOOKS
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Number of the records: 1  

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