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ataxia teleangiektázia

  1. Record numberd001260
    Date06.06.2025
    TypeM - MESH
    Topical termataxia teleangiektázia
    Other termEnglish (Pseudonym) Louis-Bar Syndrome
    Slovak (Pseudonym) Louis-Barovej syndróm
    Slovak (Pseudonym) ataxia teleangiektatická
    Slovak (Pseudonym) ataxia teleangiectasia
    Slovak (Pseudonym) ataxia-teleangiektázia
    UDCC10.228.140.252.190.530.060C10.562.100C10.597.350.090.500.530.060C14.907.823.213C16.320.080C16.320.798.250C18.452.284.060C20.673.795.250
    NoteAn autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
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Number of the records: 1  

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