loading...| Preferred Name |
Fabry disease |
| ID |
http://www.orpha.net/ORDO/Orphanet_324 |
| alternative_term |
Angiokeratoma corporis diffusum Anderson-Fabry disease Diffuse angiokeratoma Alpha-galactosidase A deficiency FD |
| definition |
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 |
| has_age_of_onset |
Adult Adolescent Childhood |
| has_inheritance |
X-linked recessive X-linked dominant |
| hasDbXref |
OMIM:301500 ICD-11:5C56.01 MeSH:D000795 ICD-10:E75.2 UMLS:C0002986 MedDRA:10016016 |
| label |
Fabry disease |
| notation |
ORPHA:324 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_139009 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_217638 http://www.orpha.net/ORDO/Orphanet_98644 http://www.orpha.net/ORDO/Orphanet_183478 |
| prefixIRI |
ORDO:Orphanet_324 |
| prefLabel |
Fabry disease |
| present_in |
Turkey AND has_birth_prevalence_average_value : 0.015 AND has_birth_prevalence_range : <1 / 1 000 000 China AND has_point_prevalence_average_value : 0.118 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 6.96 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 6.66 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 1.11 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_139009 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_217638 http://www.orpha.net/ORDO/Orphanet_98644 http://www.orpha.net/ORDO/Orphanet_183478 |
| subClassOf |