Preferred Label : ataxia telangiectasia;
RADLEX synonyms : Louis-Barr syndrome;
Definition : 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];
UMLS CUI (RADLEX) : C0004135;
Origin ID : RID5126;
UMLS CUI : C0004135;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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]
