loading...| Preferred Name |
Fucosidosis |
|
| Synonyms |
Alpha-L-fucosidase deficiency |
|
| Definitions |
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_349 |
|
| alternative_term |
Alpha-L-fucosidase deficiency |
|
| definition |
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 |
|
| has_age_of_onset |
Childhood Infancy |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:5C56.21 OMIM:230000 UMLS:C0016788 MeSH:D005645 ICD-10:E77.1 |
|
| label |
Fucosidosis |
|
| notation |
ORPHA:349 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_93448 |
|
| prefixIRI |
ORDO:Orphanet_349 |
|
| prefLabel |
Fucosidosis |
|
| present_in |
Sweden AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 161.0 (Case) Cuba AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_93448 |
|
| subClassOf |