Number of the records: 1  

Dentova choroba

  1. Record numberd057973
    Date06.06.2025
    TypeM - MESH
    Topical termDentova choroba
    Other termEnglish (Pseudonym) Dent's Disease
    See also(Skutočné meno) Bartterov syndróm
    (Skutočné meno) Fanconiho syndróm
    (Skutočné meno) syndróm okulocerebrorenálny
    (Skutočné meno) Gitelmanov syndróm
    UDCC12.050.351.968.419.815.364C12.200.777.419.815.364C12.950.419.815.364C16.320.322.100C16.320.831.271
    NoteX-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
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Number of the records: 1  

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