Preferred Name |
Wiskott-Aldrich syndrome |
|
Synonyms |
Eczema-thrombocytopenia-immunodeficiency syndrome |
|
Definitions |
A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_906 |
|
alternative_term |
Eczema-thrombocytopenia-immunodeficiency syndrome WAS |
|
definition |
A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 |
|
has_age_of_onset |
Infancy Neonatal |
|
has_inheritance |
Not applicable Autosomal recessive X-linked recessive Autosomal dominant |
|
hasDbXref |
ICD-10:D82.0 ICD-11:3B62.0Y OMIM:614493 UMLS:C0043194 OMIM:600903 OMIM:301000 MedDRA:10047992 MeSH:D014923 |
|
label |
Wiskott-Aldrich syndrome |
|
notation |
ORPHA:906 |
|
part_of |
http://www.orpha.net/ORDO/Orphanet_331217 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_506219 http://www.orpha.net/ORDO/Orphanet_183494 |
|
prefixIRI |
ORDO:Orphanet_906 |
|
prefLabel |
Wiskott-Aldrich syndrome |
|
present_in |
United States AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.0278 AND has_point_prevalence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.55 AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 |
|
treeView |
http://www.orpha.net/ORDO/Orphanet_331217 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_506219 http://www.orpha.net/ORDO/Orphanet_183494 |
|
subClassOf |