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ONTOLOGY REPORT - ANNOTATIONS


Term:Fabry disease pathway
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Accession:PW:0002103 term browser browse the term
Definition:An X-linked inherited metabolic disorder resulting from alterations in lipid metabolic pathways. It is due to defects in alpha-galactosidase leading to accumulation of glycosphingolipids in blood vessels.
Synonyms:related_synonym: SMP:00525


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Fabry disease pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acer1 alkaline ceramidase 1 JBrowse link 9 10,061,978 10,093,588 RGD:10402751
G Acer3 alkaline ceramidase 3 JBrowse link 1 163,160,987 163,263,621 RGD:10402751
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:10402751
G B4galt6 beta-1,4-galactosyltransferase 6 JBrowse link 18 15,462,913 15,525,584 RGD:10402751
G Cerk ceramide kinase JBrowse link 7 127,015,162 127,058,056 RGD:10402751
G Degs2 delta(4)-desaturase, sphingolipid 2 JBrowse link 6 132,591,968 132,608,600 RGD:10402751
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 JBrowse link 10 108,095,131 108,099,483 RGD:10402751
G Gal3st1 galactose-3-O-sulfotransferase 1 JBrowse link 14 84,231,473 84,247,371 RGD:10402751
G Galc galactosylceramidase JBrowse link 6 122,177,195 122,239,411 RGD:10402751
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:10402751
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:10402751
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:10402751
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link 13 26,779,386 26,812,271 RGD:10402751
G Neu3 neuraminidase 3 JBrowse link 1 164,803,574 164,814,777 RGD:10402751
G Plpp1 phospholipid phosphatase 1 JBrowse link 2 44,664,076 44,726,820 RGD:10402751
G Sgms1 sphingomyelin synthase 1 JBrowse link 1 250,692,448 250,951,685 RGD:10402751
G Sgpl1 sphingosine-1-phosphate lyase 1 JBrowse link 20 30,699,936 30,769,178 RGD:10402751
G Sgpp2 sphingosine-1-phosphate phosphatase 2 JBrowse link 9 84,203,094 84,321,269 RGD:10402751
G Sphk2 sphingosine kinase 2 JBrowse link 1 101,692,972 101,700,604 RGD:10402751
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:10402751
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 JBrowse link 6 111,334,408 111,417,960 RGD:10402751
G Ugcg UDP-glucose ceramide glucosyltransferase JBrowse link 5 76,376,722 76,419,564 RGD:10402751
G Ugt8 UDP glycosyltransferase 8 JBrowse link 2 229,644,373 229,718,678 RGD:10402751

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6016
    disease pathway 1947
      congenital disease pathway 527
        inborn genetic disease pathway 527
          X-linked genetic disease pathway 92
            Fabry disease pathway 23
              Fabry disease pathway, cerebrovascular 0
Path 2
Term Annotations click to browse term
  pathway 6016
    disease pathway 1947
      nutritional and metabolic disease pathway 705
        metabolic disease pathway 664
          inborn error of metabolism pathway 527
            lysosomal storage disease pathway 70
              nervous system lysosomal storage disease pathway 40
                sphingolipidosis pathway 23
                  Fabry disease pathway 23
                    Fabry disease pathway, cerebrovascular 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.