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Accession:DOID:0050441 term browser browse the term
Definition:An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
Synonyms:exact_synonym: Juvenile Sulfatidosis;   MSD;   Multiple Sulfatase Deficiency;   juvenile sulfatidoses;   multiple sulfatase deficiencies;   multiple sulfatase deficiency disease;   multiple sulfatase deficiency diseases;   multiple sulphatase deficiency disease;   sulfatidosis juvenile, Austin type
 primary_id: MESH:D052517
 alt_id: OMIM:272200;   RDO:0007594
 xref: NCI:C84908
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mucosulfatidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:7240710
G Sumf2 sulfatase modifying factor 2 JBrowse link 12 30,465,025 30,490,683 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          lipid storage disease 364
            sphingolipidosis 46
              mucosulfatidosis 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                Lysosomal Storage Diseases, Nervous System 62
                  sphingolipidosis 46
                    Sulfatidosis 9
                      mucosulfatidosis 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.