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Entry Name Description Category Pathway Gene
H00124 GM2 gangliosidoses ... gene cause deficiency of the beta-hexosaminidase A and result in Tay-Sachs disease. Mutations of the HEXB gene, encoding the beta-subunit, cause deficiency of both enzymes (beta-hexosaminidase A and B) ... Inherited metabolic disorder, Lysosomal disease (Type I) HEXA [HSA:3073] [KO:K12373]
(Type II) HEXB [HSA:3074] [KO:K12373]
(AB variant) GM2A [HSA:2760] [KO:K12383]
H00426 Gangliosidosis Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes or their activators that play important roles in the degradation ... Inherited metabolic disorder, Lysosomal disease (GM1G) GLB1 [HSA:2720] [KO:K12309]
(GM2G1) HEXA [HSA:3073] [KO:K12373]
(GM2G2) HEXB [HSA:3074] [KO:K12373]
(GM2AB) GM2A [HSA:2760] [KO:K12383]
H02017 Sandhoff disease
GM2 gangliosidoses type II 		Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXB that encodes beta-hexosaminidase subunit beta. Sandhoff disease is characterized by combined deficiency ... Inherited metabolic disorder, Lysosomal disease HEXB [HSA:3074] [KO:K12373]
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