loading...| Preferred Name |
Ataxia-telangiectasia |
| ID |
http://www.orpha.net/ORDO/Orphanet_100 |
| alternative_term |
Louis-Bar syndrome |
| definition |
A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 |
| has_age_of_onset |
Childhood Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:208900 MedDRA:10003594 ICD-10:G11.3 ICD-11:4A01.31 UMLS:C0004135 OMIM:208910 MeSH:D001260 |
| label |
Ataxia-telangiectasia |
| notation |
ORPHA:100 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_252190 http://www.orpha.net/ORDO/Orphanet_519341 http://www.orpha.net/ORDO/Orphanet_95710 http://www.orpha.net/ORDO/Orphanet_98097 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_522506 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_183478 |
| prefixIRI |
ORDO:Orphanet_100 |
| prefLabel |
Ataxia-telangiectasia |
| present_in |
Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.25 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 Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.25 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 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_252190 http://www.orpha.net/ORDO/Orphanet_519341 http://www.orpha.net/ORDO/Orphanet_95710 http://www.orpha.net/ORDO/Orphanet_98097 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_522506 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_183478 |
| subClassOf |