GM1 gangliosidosis type 2

Summary
Synonym
  • juvenile GM1 gangliosidosis
Definition
A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.
Super Class
GM1 gangliosidosis
External Links
Disease Ontology
DOID:0080501
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12091 Glb1 galactosidase, beta 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P16278 Beta-galactosidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 35 in total
HPO ID HPO Term
HP:0001982 Sea-blue histiocytosis
HP:0009826 Limb undergrowth
HP:0001251 Ataxia
HP:0002673 Coxa valga
HP:0000280 Coarse facial features
HP:0002123 Generalized myoclonic seizure
HP:0007272 Progressive psychomotor deterioration
HP:0001508 Failure to thrive
HP:0000160 Narrow mouth
HP:0002510 Spastic tetraplegia
Displaying 1 entry
Gene ID Gene Symbol Description
2720 GLB1 galactosidase beta 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024