KEGG DISEASE: Sphingolipidosis

DISEASE: Sphingolipidosis

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

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
     H00423  Sphingolipidosis
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06014  Sphingolipid degradation
   H00423  Sphingolipidosis

Pathway

hsa00600

Sphingolipid metabolism

hsa04142

Lysosome

Network

nt06014 Sphingolipid degradation

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

PMID:18708002

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

PMID:18465098

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

PMID:16854371

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

» Japanese version

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Network (3)   
   KEGG NETWORK (1)   
   KEGG VARIANT (2)   
Disease (4)   
   OMIM (4)   
Gene (18)   
   KEGG ORTHOLOGY (9)   
   KEGG GENES (9)   
Literature (7)   
   PubMed (7)   
All databases (32)   

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