loading...| Preferred Name | Ataxia Telangiectasia | |
| Synonyms |
Ataxia Telangiectasia Syndrome Louis-Bar Syndrome |
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| 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. 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://uri.neuinfo.org/nif/nifstd/birnlex_12649 |
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| Obsolete |
true |
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| alternative label |
Ataxia Telangiectasia Syndrome Louis-Bar Syndrome |
|
| createdDate |
2007-10-05 |
|
| definingCitation |
Menkes, Textbook of Child Neurology, 5th ed, p688 |
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| definingCitationURI | ||
| 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. 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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| editorial note | ||
| externalSourceId |
D001260 |
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| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasDefinitionSource | ||
| hasExternalSource | ||
| label |
Ataxia Telangiectasia |
|
| MeshUid |
D001260 |
|
| modifiedDate |
2007-10-05 |
|
| 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. The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23) (MeSH). |
|
| owl:deprecated |
true |
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| preferred label |
Ataxia Telangiectasia |
|
| Resource Identifier |
D001260 |
|
| synonym |
Ataxia Telangiectasia Syndrome Louis-Bar Syndrome |
|
| subClassOf |