Number of the records: 1  

Wolframov syndróm

  1. Record numberd014929
    Date06.06.2025
    TypeM - MESH
    Topical termWolframov syndróm
    Other termEnglish (Pseudonym) DIDMOAD
    English (Pseudonym) DIDMOAD Syndrome
    Slovak (Pseudonym) DIDMOAD
    Slovak (Pseudonym) DIDMOAD syndróm
    UDCC09.218.458.341.186.500.750C10.292.700.225.500.980C10.574.500.662.980C10.597.751.418.341.186.500.750C10.597.751.941.162.625.750C11.270.564.980C11.640.451.451.980C11.966.075.375.750C12.050.351.968.419.135.875C12.200.777.419.135.875C12.950.419.135.875C16.131.077.299.750C16.320.290.564.980C16.320.400.630.980C18.452.394.750.124.960C19.246.267.960C19.700.159.875
    NoteA hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
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Number of the records: 1  

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