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ONTOLOGY REPORT - ANNOTATIONS


Term:mucosulfatidosis
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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872
RGD:11554173
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 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        lipid metabolism disorder 736
          lipid storage disease 356
            sphingolipidosis 46
              mucosulfatidosis 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            Metabolic Brain Diseases 475
              Metabolic Brain Diseases, Inborn 409
                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.