loading...| Preferred Name |
Werner syndrome |
|
| Synonyms |
Adult progeria |
|
| Definitions |
Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_902 |
|
| alternative_term |
Adult progeria WS |
|
| definition |
Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 |
|
| has_age_of_onset |
Adolescent Adult |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
MeSH:D014898 MedDRA:10049429 UMLS:C0043119 ICD-10:E34.8 OMIM:277700 ICD-11:LD2B |
|
| label |
Werner syndrome |
|
| notation |
ORPHA:902 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_79389 |
|
| prefixIRI |
ORDO:Orphanet_902 |
|
| prefLabel |
Werner syndrome |
|
| present_in |
Japan AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_79389 |
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| subClassOf |