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Descriptor English: Ataxia Telangiectasia
Descriptor Spanish: Ataxia Telangiectasia
Descriptor Portuguese: Ataxia Telangiectasia
Descriptor French: Ataxie-télangiectasie
Entry term(s): Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia
Louis Bar Syndrome
Louis-Bar Syndrome
Syndrome, Ataxia Telangiectasia
Syndrome, Louis-Bar
Telangiectasia, Cerebello-Oculocutaneous
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
RDF Unique Identifier: https://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).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Ataxia (1966-1967)
Public MeSH Note: 1968
History Note: 1968
DeCS ID: 22346
Unique ID: D001260
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1968/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Ataxia Telangiectasia - Preferred
Concept UI M0001898
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).
Preferred term Ataxia Telangiectasia
Entry term(s) Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia
Louis Bar Syndrome
Louis-Bar Syndrome
Syndrome, Ataxia Telangiectasia
Syndrome, Louis-Bar
Telangiectasia, Cerebello-Oculocutaneous



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