loading...| Preferred Name | Wilson disease | |
| Synonyms |
Hepatolenticular degeneration |
|
| Definitions |
A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_905 |
|
| alternative_term |
Hepatolenticular degeneration |
|
| definition |
A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=905 |
|
| has_age_of_onset |
Adolescent Adult Childhood Elderly |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
MedDRA:10019819 ICD-11:5C64.00 ICD-10:E83.0 OMIM:277900 UMLS:C0019202 MeSH:D006527 |
|
| label |
Wilson disease |
|
| notation |
ORPHA:905 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_306712 http://www.orpha.net/ORDO/Orphanet_98687 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_309839 http://www.orpha.net/ORDO/Orphanet_307061 http://www.orpha.net/ORDO/Orphanet_370106 http://www.orpha.net/ORDO/Orphanet_98033 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_101940 |
|
| prefixIRI |
ORDO:Orphanet_905 |
|
| prefLabel |
Wilson disease |
|
| present_in |
Specific population AND has_birth_prevalence_average_value : 13.5 AND has_birth_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 37.04 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 1.37 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.02 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.94 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 2.25 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_306712 http://www.orpha.net/ORDO/Orphanet_98687 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_309839 http://www.orpha.net/ORDO/Orphanet_307061 http://www.orpha.net/ORDO/Orphanet_370106 http://www.orpha.net/ORDO/Orphanet_98033 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_101940 |
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| subClassOf |