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DeCS
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Descriptor English:
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Ataxia Telangiectasia
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Descriptor Spanish:
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ataxia telangiectasia
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Descriptor Portuguese:
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Ataxia Telangiectasia
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Synonyms English:
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Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia
Louis Bar Syndrome
Louis-Bar Syndrome
Syndrome, Ataxia Telangiectasia
Syndrome, Louis-Bar
Telangiectasia, Cerebello-Oculocutaneous
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Tree Number:
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C10.228.140.252.190.530.060
C10.562.100
C10.597.350.090.500.530.060
C14.907.823.213
C16.320.080
C18.452.284.060
C20.673.290
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Definition English:
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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). |
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History Note English:
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1968
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Allowable Qualifiers English:
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Record Number:
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22346
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Unique Identifier:
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D001260
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Occurrence in VHL:
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Similar:
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DeCS
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