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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:metachromatic leukodystrophy pathway
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Accession:PW:0002532 term browser browse the term
Definition:An autosomal recessive condition resulting from alterations in cerebroside metabolism due to defects in the cerebroside sulfatase enzyme.
Synonyms:exact_synonym: Scholz cerebral sclerosis pathway;   arylsulfatase A deficiency pathway;   deficiency of cerebroside-sulfatase pathway;   metachromatic leukodystrophy disease pathway;   sulfatide lipoidosis pathway
 related_synonym: MLD pathway;   SMP:00347


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metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chr 9:1,881,361...1,911,439
Ensembl chr 9:1,881,361...1,919,416 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:161,915,397...162,017,802
Ensembl chr 1:161,915,397...162,017,912 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:12,233,350...12,290,204
Ensembl chr18:12,233,351...12,290,204 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:119,105,674...119,149,885
Ensembl chr 7:119,105,674...119,148,570 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:133,360,449...133,377,677
Ensembl chr 6:133,360,457...133,364,422 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:104,740,763...104,745,760
Ensembl chr10:104,740,763...104,745,760 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:83,094,265...83,109,992
Ensembl chr14:83,094,385...83,109,978 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:123,182,643...123,245,578 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:122,963,718...123,036,326 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:23,374,101...23,408,779
Ensembl chr13:23,376,779...23,408,897 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:163,549,834...163,560,997
Ensembl chr 1:163,549,738...163,561,049 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:46,172,202...46,233,632
Ensembl chr 2:46,172,197...46,234,676 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:239,409,991...239,681,195
Ensembl chr 1:239,409,991...239,505,774 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:29,590,652...29,637,064
Ensembl chr20:29,592,721...29,667,753 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:87,211,155...87,331,787
Ensembl chr 9:87,211,717...87,333,132 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:105,317,332...105,324,985
Ensembl chr 1:105,317,333...105,321,637 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:12,029,189...12,068,234
Ensembl chr17:12,029,189...12,068,234 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:112,679,623...112,762,470
Ensembl chr 6:112,679,623...112,762,640 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:78,828,006...78,860,725
Ensembl chr 5:78,828,006...78,860,417 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:216,938,884...217,007,167
Ensembl chr 2:216,938,990...217,007,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            hereditary central nervous system demyelinating disease pathway 23
              metachromatic leukodystrophy pathway 23
Path 2
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of brain metabolic pathway 319
              nervous system lysosomal storage disease pathway 40
                sphingolipidosis pathway 23
                  metachromatic leukodystrophy pathway 23
paths to the root