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Urbachova-Wiethova lipoidproteinóza

  1. Subject h.Urbachova-Wiethova lipoidproteinóza
    Subject h.Lipoid Proteinosis of Urbach and Wiethe
    Entry termsproteinóza lipidová
    lipoproteinóza
    Urbachova-Wiethova choroba
    English X referencesLipoproteinosis
    Urbach-Wiethe Disease
    Scope note in EnglishAn autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
    See also reference (FX) in Slovak syndróm hyalínovej fibromatózy
    See also reference (FX) in English Hyaline Fibromatosis Syndrome
    Links (2) - ARTICLES
    (2) - MeSH descriptor
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Number of the records: 1  

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