loading...| Preferred Name | Ataxia-telangiectasia | |
| Synonyms |
Louis-Bar syndrome |
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| Definitions |
A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_100 |
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| alternative_term |
Louis-Bar syndrome |
|
| definition |
A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100 |
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| has_age_of_onset |
Childhood Infancy |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:208900 OMIM:208910 MedDRA:10003594 ICD-10:G11.3 ICD-11:4A01.31 MeSH:D001260 UMLS:C0004135 |
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| label |
Ataxia-telangiectasia |
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| notation |
ORPHA:100 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_169346 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_183478 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_95710 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_252190 http://www.orpha.net/ORDO/Orphanet_522506 |
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| prefixIRI |
ORDO:Orphanet_100 |
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| prefLabel |
Ataxia-telangiectasia |
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| present_in |
United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_169346 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_183478 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_95710 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_252190 http://www.orpha.net/ORDO/Orphanet_522506 |
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| subClassOf |