| H00426 | |
| H number | H00426 |
| Name | Gangliosidosis |
| Description | 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 of ganglioside. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded substrates such as keratan sulfate, gangliosides, glucosylceramide and glycopeptides in neurons and skeletal tissues. Deficiency of the GM2 activator protein causes the AB variant of GM2 gangliosidosis. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | (GM1G) GLB1 [HSA:2720] [KO:K12309] (GM2G1) HEXA [HSA:3073] [KO:K12373] (GM2G2) HEXB [HSA:3074] [KO:K12373] (GM2AB) GM2A [HSA:2760] [KO:K12383] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.00 ICD-10: E75.1 OMIM: 230500 230600 230650 268800 272800 272750 |
| Reference | PMID:19472408 (GLB1) AUTHORS Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E TITLE GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. JOURNAL Hum Mutat 30:1214-21 (2009) DOI:10.1002/humu.21031 PMID:12019216 AUTHORS Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL TITLE Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. JOURNAL Hum Mol Genet 11:1343-50 (2002) DOI:10.1093/hmg/11.11.1343 PMID:2525553 (HEXA, HEXB) AUTHORS Neufeld EF TITLE Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase. JOURNAL J Biol Chem 264:10927-30 (1989) PMID:8244332 (GM2A) AUTHORS Schroder M, Schnabel D, Hurwitz R, Young E, Suzuki K, Sandhoff K TITLE Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. JOURNAL Hum Genet 92:437-40 (1993) DOI:10.1007/BF00216446 |