H00423 | |
H number | H00423 |
Name | Sphingolipidosis |
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 |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 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 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 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 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 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 |