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Ataxia Telangiectasia

An 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).

Year introduced: 1968

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Tree Number(s): C10., C10.562.100, C10.597.350.090.500.530.060, C14.907.823.213, C16.320.080, C16.320.798.250, C18.452.284.060, C20.673.795.250

MeSH Unique ID: D001260

Entry Terms:

  • Telangiectasia, Cerebello-Oculocutaneous
  • Ataxia Telangiectasia Syndrome
  • Syndrome, Ataxia Telangiectasia
  • Ataxia-Telangiectasia
  • Louis-Bar Syndrome
  • Louis Bar Syndrome
  • Syndrome, Louis-Bar

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