KEGG   DISEASE: SphingolipidosisHelp
Entry
H00423                      Disease                                

Name
Sphingolipidosis
  Subgroup
Gangliosidosis [DS:H00426]
Fabry disease [DS:H00125]
Gaucher disease [DS:H00126]
Metachromatic leukodystrophy [DS:H00127]
Defects in the degradation of sphingomyelin [DS:H00424]
Krabbe disease [DS:H00135]
Multiple sulfatase deficiency [DS:H00272]
  Supergrp
Lysosomal storage disease [DS:H01425]
Description
The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H00423  Sphingolipidosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00423  Sphingolipidosis
BRITE hierarchy
Pathway
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00641  GBA deficiency in lactosylceramide hydrolysis
N00645  GLA deficiency in galabiosylceramide hydrolysis
N00646  GALC deficiency in galactosylceramide hydrolysis
N00648  ARSA deficiency in galactosylceramide sulfate hydrolysis
N00650  SMPD1 deficiency in sphingolipid degradation
N00651  ASAH1 deficiency in sphingolipid degradation
N00652  GLA mutation
N00679  Glucosylceramide synthesis in GBA deficiency
Gene
GLA [HSA:2717] [KO:K01189]
GLB1 [HSA:2720] [KO:K12309]
GBA [HSA:2629] [KO:K01201]
ARSA [HSA:410] [KO:K01134]
GALC [HSA:2581] [KO:K01202]
SMPD1 [HSA:6609] [KO:K12350]
ASAH1 [HSA:427] [KO:K12348]
PSAP [HSA:5660] [KO:K12382]
SUMF1 [HSA:285362] [KO:K13444]
Other DBs
ICD-11: 5C56.0
ICD-10: E75.2
OMIM: 250100 249900 245200 272200
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005
Reference
  Authors
Eckhardt M
  Title
The role and metabolism of sulfatide in the nervous system.
  Journal
Mol Neurobiol 37:93-103 (2008)
DOI:10.1007/s12035-008-8022-3
Reference
  Authors
Kolter T, Sandhoff K
  Title
Sphingolipid metabolism diseases.
  Journal
Biochim Biophys Acta 1758:2057-79 (2006)
DOI:10.1016/j.bbamem.2006.05.027
Reference
PMID:17347913 (MLD)
  Authors
Sevin C, Aubourg P, Cartier N
  Title
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
  Journal
J Inherit Metab Dis 30:175-83 (2007)
DOI:10.1007/s10545-007-0540-z
Reference
PMID:19267410 (MLD variant)
  Authors
Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
  Title
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
  Journal
Am J Med Genet A 149A:613-21 (2009)
DOI:10.1002/ajmg.a.32712
Reference
PMID:10833326 (Krabbe)
  Authors
Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
  Title
Krabbe disease: genetic aspects and progress toward therapy.
  Journal
Mol Genet Metab 70:1-9 (2000)
DOI:10.1006/mgme.2000.2990
Reference
PMID:18157819 (MSD)
  Authors
Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
  Title
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
  Journal
Hum Mutat 29:205 (2008)
DOI:10.1002/humu.9515
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system