loading...| Preferred Name | GM1 gangliosidosis | |
| Synonyms |
Landing disease GLB1 deficiency Beta-galactosidase-1 deficiency |
|
| Definitions |
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_354 |
|
| alternative_term |
Landing disease GLB1 deficiency Beta-galactosidase-1 deficiency |
|
| definition |
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=354 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C0085131 OMIM:230500 ICD-10:E75.1 OMIM:230600 ICD-11:5C56.00 OMIM:230650 MeSH:D016537 |
|
| label |
GM1 gangliosidosis |
|
| notation |
ORPHA:354 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_309144 |
|
| prefixIRI |
ORDO:Orphanet_354 |
|
| prefLabel |
GM1 gangliosidosis |
|
| present_in |
Brazil AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Malta AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_309144 |
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| subClassOf |