GM1 gangliosidosis

Term ID

DOID:3322

Synonyms

Beta-galactosidase deficiency
deficiency of beta-galactosidase
gangliosidosis GM1

Definition

A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis

References

GARD:10891
ICD10CM:E75.19
MESH:D016537
NCI:C84739
SNOMEDCT_US_2023_03_01:32917001
UMLS_CUI:C0085131

Ontology

Human Disease ( DOID:3322 )

Relationships

is a type of: gangliosidosis

gangliosidosis Show first 5 Terms
has subtype: GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3

GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models