Link to this page
Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
Jump to:
| Preferred Name | Gaucher disease | |
| Synonyms |
Acid beta-glucosidase deficiency Glucocerebrosidase deficiency |
|
| Definitions |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_355 |
|
| alternative_term |
Acid beta-glucosidase deficiency Glucocerebrosidase deficiency
|
|
| definition |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=355 |
|
| has_age_of_onset |
All ages
|
|
| has_inheritance |
Autosomal recessive
|
|
| hasDbXref |
MeSH:D005776 OMIM:608013 OMIM:610539 UMLS:C0017205 OMIM:230900 ICD-11:5C56.0Y OMIM:230800 OMIM:231000 OMIM:231005 ICD-10:E75.2 MedDRA:10018048
|
|
| label |
Gaucher disease
|
|
| notation |
ORPHA:355
|
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_355
|
|
| prefLabel |
Gaucher disease
|
|
| present_in |
Austria AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.67 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 1.13 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 Hungary AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 0.74 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.224 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 2.11 AND has_birth_prevalence_range : 1-9 / 100 000
|
|
| treeView | ||
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping