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Ataxia Telangiectasia MeSH Descriptor Data 2021


MeSH Heading
Ataxia Telangiectasia
Tree Number(s)
C10.228.140.252.190.530.060
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
Unique ID
D001260
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D001260
Scope Note
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).
Entry Term(s)
Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia
Louis-Bar Syndrome
Telangiectasia, Cerebello-Oculocutaneous
NLM Classification #
WL 320
Previous Indexing
Ataxia (1966-1967)
Public MeSH Note
1968
History Note
1968
Date Established
1968/01/01
Date of Entry
1999/01/01
Revision Date
2019/06/17
Ataxia Telangiectasia Preferred
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