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 )