Biomaterial Database

Nomenclature of GM2-gangliosidoses. 1980

S Nørby

As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2-gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses. The biochemical genetics of the lysosomal beta-hexosaminidase system in man are briefly reviewed, and recommendations are proposed for the use of eponyms and type designations based upon a locus-oriented framework.

UI	MeSH Term	Description	Entries
D009626	Terminology as Topic	Works about the terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.	Etymology,Nomenclature as Topic,Etymologies
D006596	Hexosaminidases	Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.	Galactosaminidases,Hexosaminidase,Galactosaminidase,Glucosaminidase,Glucosaminidases
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012497	Sandhoff Disease	An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.	G(M2) Gangliosidosis, Type II,Gangliosidosis G(M2), Type II,Hexosaminidase A and B Deficiency Disease,Adult Sandhoff Disease,Deficiency Disease, Hexosaminidase A and B,GM2 Gangliosidosis, Type 2,GM2 Gangliosidosis, Type II,GM2-Gangliosidosis, Type II,Gangliosidosis GM2, Type II,Hexosaminidases A And B Deficiency,Infantile Sandhoff Disease,Juvenile Sandhoff Disease,Sandhoff Disease, Adult,Sandhoff Disease, Adult Type,Sandhoff Disease, Infantile,Sandhoff Disease, Infantile Type,Sandhoff Disease, Juvenile,Sandhoff Disease, Juvenile Type,Sandhoff's Disease,Sandhoff-Jatzkewitz-Pilz Disease,Total Hexosaminidase Deficiency,beta-Hexosaminidase-beta-Subunit Deficiency,Deficiency, Total Hexosaminidase,Deficiency, beta-Hexosaminidase-beta-Subunit,Disease, Sandhoff-Jatzkewitz-Pilz,GM2-Gangliosidoses, Type II,Hexosaminidase Deficiency, Total,Sandhoff Jatzkewitz Pilz Disease,Sandhoffs Disease,Total Hexosaminidase Deficiencies,Type II GM2-Gangliosidoses,Type II GM2-Gangliosidosis,beta Hexosaminidase beta Subunit Deficiency,beta-Hexosaminidase-beta-Subunit Deficiencies
D013661	Tay-Sachs Disease	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.	G(M2) Gangliosidosis, Type I,Gangliosidosis G(M2), Type I,Gangliosidosis GM2, B Variant,Hexosaminidase A Deficiency Disease,Tay-Sachs Disease, B Variant,Amaurotic Familial Idiocy,B Variant GM2 Gangliosidosis,B Variant GM2-Gangliosidosis,Deficiency Disease Hexosaminidase A,Familial Amaurotic Idiocy,GM2 Gangliosidosis, B Variant,GM2 Gangliosidosis, Type 1,GM2 Gangliosidosis, Type I,GM2-Gangliosidosis, Type I,Gangliosidosis GM2 , Type 1,Gangliosidosis GM2, Type I,HexA Deficiency,Hexosaminidase A Deficiency,Hexosaminidase alpha-Subunit Deficiency (Variant B),Sphingolipidosis, Tay-Sachs,Amaurotic Idiocy, Familial,B Variant GM2-Gangliosidoses,Deficiency, Hexosaminidase A,Deficiency, Hexosaminidase alpha-Subunit (Variant B),GM2-Gangliosidosis, B Variant,Hexosaminidase alpha Subunit Deficiency (Variant B),Sphingolipidosis, Tay Sachs,Tay Sachs Disease,Tay Sachs Disease, B Variant,Tay-Sachs Sphingolipidosis,Type I GM2-Gangliosidosis