Diseases

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).

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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).

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

7 entry terms
  • Ataxia Telangiectasia Syndrome
  • Ataxia-Telangiectasia
  • Louis-Bar Syndrome
  • Telangiectasia, Cerebello-Oculocutaneous
  • Louis Bar Syndrome
  • Syndrome, Ataxia Telangiectasia
  • Syndrome, Louis-Bar

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1968

MeSH Record

Previous Indexing

  • Ataxia (1966-1967)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.252.190w.530w.060w
  2. C10w.562w.100w
  3. C10w.597.350w.090w.500w.530w.060w
  4. C14w.907w.823w.213w
  5. C16w.320w.080w
  6. C16w.320w.798w.250w
  7. C18.452w.284w.060w
  8. C20w.673w.795w.250w

MeSH Record

NLM Classification

WL 320

AMA Style

References

  1. National Library of Medicine. Ataxia Telangiectasia. Medical Subject Headings (MeSH). 2026. Unique ID D001260. http://id.nlm.nih.gov/mesh/2026/D001260
  2. Ataxia Telangiectasia. In: Wikipedia. https://en.wikipedia.org/wiki/Ataxia%E2%80%93telangiectasia
  3. Ataxia Telangiectasia. In: Wikidata. https://www.wikidata.org/wiki/Q387082