KEGG   DISEASE: Gangliosidosis
Entry
H00426                      Disease                                
Name
Gangliosidosis
  Subgroup
GM1 gangliosidosis [DS:H00281]
GM2 gangliosidoses [DS:H00124]
  Supergrp
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00426  Gangliosidosis
Pathway
hsa04142  Lysosome
hsa00531  Glycosaminoglycan degradation
hsa00511  Other glycan degradation
hsa00604  Glycosphingolipid biosynthesis - ganglio series
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]
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
Reference
  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
Reference
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)
Reference
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

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