MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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).
Terms: Ataxia Telangiectasia Preferred Term
Term UI T003760
Date01/01/1999
LexicalTag NON
ThesaurusID NLM (1968); Telangiectasia, Cerebello-Oculocutaneous
Term UI T840941
Date04/18/2013
LexicalTag NON
ThesaurusID; Ataxia Telangiectasia Syndrome
Term UI T366092
Date11/04/1999
LexicalTag NON
ThesaurusID; Ataxia-Telangiectasia
Term UI T003759
Date07/19/1995
LexicalTag NON
ThesaurusID; Louis-Bar Syndrome
Term UI T003761
Date03/29/1974
LexicalTag EPO
ThesaurusID

Ataxia Telangiectasia MeSH Descriptor Data 2024