You are using an outdated browser. Please upgrade your browser to improve your experience.

Sandhoff disease

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.
Uniprot Description An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.
Disease Ontology Description A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Mondo Term and Equivalent IDs
MONDO:0010006:  Sandhoff disease
GARD:0002521: 
GARD:0007604: 
ICD10:E75.01: 
MESH:D012497: 
NCIT:C85052: 
Orphanet:796: 
SCTID:23849003: 
UMLS:C0036161: