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Radiology Lexicon
Last uploaded:
November 19, 2024
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| Preferred Name | ataxia telangiectasia | |
| Synonyms |
Louis-Barr syndrome |
|
| Definitions |
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] |
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| ID |
http://www.radlex.org/RID/RID5126 |
|
| 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]
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|
| label |
RID5126
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|
| Preferred_name |
ataxia telangiectasia
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| prefixIRI |
RID1:RID5126
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|
| prefLabel |
ataxia telangiectasia
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|
| Synonym |
Louis-Barr syndrome
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|
| UMLS_ID |
C0004135
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| subClassOf |
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