Jump to:
loading...| Preferred Name | RID5126 | |
| Synonyms |
|
|
| ID |
http://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] |
|
| label |
RID5126 |
|
| Preferred_name |
ataxia telangiectasia |
|
| prefixIRI |
RID:RID5126 |
|
| prefLabel |
RID5126 |
|
| Synonym |
Louis-Barr syndrome |
|
| UMLS_ID |
C0004135 |
|
| subClassOf |