KEGG   DISEASE: Sandhoff diseaseHelp
Entry
H02017                      Disease                                

Name
Sandhoff disease;
GM2 gangliosidoses type II
  Supergrp
GM2 gangliosidoses [DS:H00124]
Gangliosidosis [DS:H00426]
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
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 of hexosaminidase A (HexA) and hexosaminidase B (HexB) activities. GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. The severe form is characterized by an early age of onset and a rapidly progressive clinical course leading to death in early childhood, whereas the juvenile and adult forms start later and generally manifest a less severe course.
Category
Inherited metabolic disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H02017  Sandhoff disease
  Lysosomal storage diseases
   H02017  Sandhoff disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H02017  Sandhoff disease
BRITE hierarchy
Pathway
hsa00531  Glycosaminoglycan degradation
hsa00511  Other glycan degradation
Gene
HEXB [HSA:3074] [KO:K12373]
Other DBs
ICD-11: 5C56.00
ICD-10: E75.0
MeSH: D012497
OMIM: 268800
Reference
PMID:8357844
  Authors
Bolhuis PA, Ponne NJ, Bikker H, Baas F, Vianney de Jong JM
  Title
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in  a labile enzyme.
  Journal
Biochim Biophys Acta 1182:142-6 (1993)
DOI:10.1016/0925-4439(93)90134-M
Reference
  Authors
Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A
  Title
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
  Journal
Neurogenetics 10:49-58 (2009)
DOI:10.1007/s10048-008-0145-1
Reference
  Authors
Gort L, de Olano N, Macias-Vidal J, Coll MA
  Title
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
  Journal
Gene 506:25-30 (2012)
DOI:10.1016/j.gene.2012.06.080

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