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"Mucopolysaccharidosis" information

LiverAtlas Disease IDHuLDi00194
NameMucopolysaccharidosis
Description Xref:
Definition1.Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. Xref: MeSH2011_6_17:D009083
2.A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. Xref: UMLS2011AA:C0026703
3.Any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue. Xref: UMLS2011AA:C0026703
Synonym2, Mucopolysaccharidosis TypeNARROW Xref: MeSH2011_6_17:D016532
2s, Mucopolysaccharidosis TypeNARROW Xref: MeSH2011_6_17:D016532
6, Mucopolysaccharidosis TypeNARROW Xref: MeSH2011_6_17:D009087
alpha L Iduronidase DeficiencyNARROW Xref: MeSH2011_6_17:D008059
alpha-L-Iduronidase DeficienciesNARROW Xref: MeSH2011_6_17:D008059
alpha-L-Iduronidase DeficiencyNARROW Xref: MeSH2011_6_17:D008059
Arylsulfatase B DeficienciesNARROW Xref: MeSH2011_6_17:D009087
Arylsulfatase B DeficiencyNARROW Xref: MeSH2011_6_17:D009087
Deficiencies, alpha-L-IduronidaseNARROW Xref: MeSH2011_6_17:D008059
Deficiencies, Arylsulfatase BNARROW Xref: MeSH2011_6_17:D009087
Deficiencies, Galactosamine-6-SulfataseNARROW Xref: MeSH2011_6_17:D009085
Deficiencies, Iduronate 2-SulfataseNARROW Xref: MeSH2011_6_17:D016532
Deficiencies, Iduronate SulfataseNARROW Xref: MeSH2011_6_17:D016532
Deficiencies, N-Acetylgalactosamine-4-SulfataseNARROW Xref: MeSH2011_6_17:D009087
Deficiencies, Sulfoiduronate SulfataseNARROW Xref: MeSH2011_6_17:D016532
Deficiency, alpha-L-IduronidaseNARROW Xref: MeSH2011_6_17:D008059
Deficiency, Arylsulfatase BNARROW Xref: MeSH2011_6_17:D009087
Deficiency, Galactosamine-6-SulfataseNARROW Xref: MeSH2011_6_17:D009085
Deficiency, Iduronate 2-SulfataseNARROW Xref: MeSH2011_6_17:D016532
Deficiency, Iduronate SulfataseNARROW Xref: MeSH2011_6_17:D016532
Deficiency, N-Acetylgalactosamine-4-SulfataseNARROW Xref: MeSH2011_6_17:D009087
Deficiency, Sulfoiduronate SulfataseNARROW Xref: MeSH2011_6_17:D016532
Disease, HurlerNARROW Xref: MeSH2011_6_17:D008059
Disease, Hurler'sNARROW Xref: MeSH2011_6_17:D008059
Disease, MorquioNARROW Xref: MeSH2011_6_17:D009085
Disease, Morquio'sNARROW Xref: MeSH2011_6_17:D009085
Disease, Morquio-BNARROW Xref: MeSH2011_6_17:D009085
Disease, SlyNARROW Xref: MeSH2011_6_17:D016538
Dwarfism, PolydystrophicNARROW Xref: MeSH2011_6_17:D009087
Eccentro OsteochondrodysplasiaNARROW Xref: MeSH2011_6_17:D009085
Eccentro-OsteochondrodysplasiaNARROW Xref: MeSH2011_6_17:D009085
Eccentro-OsteochondrodysplasiasNARROW Xref: MeSH2011_6_17:D009085
EccentroosteochondrodysplasiaNARROW Xref: MeSH2011_6_17:D009085
EccentroosteochondrodysplasiasNARROW Xref: MeSH2011_6_17:D009085
Galactosamine 6 Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D009085
Galactosamine-6-Sulfatase DeficienciesNARROW Xref: MeSH2011_6_17:D009085
Galactosamine-6-Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D009085
Gargoylism, Hunter SyndromeNARROW Xref: MeSH2011_6_17:D016532
Gargoylism, Hurler SyndromeNARROW Xref: MeSH2011_6_17:D008059
Hunter SyndromeNARROW Xref: MeSH2011_6_17:D016532
Hunter Syndrome GargoylismNARROW Xref: MeSH2011_6_17:D016532
Hunter's SyndromeNARROW Xref: MeSH2011_6_17:D016532
Hunters SyndromeNARROW Xref: MeSH2011_6_17:D016532
Hurler DiseaseNARROW Xref: MeSH2011_6_17:D008059
Hurler Scheie SyndromeNARROW Xref: MeSH2011_6_17:D008059
Hurler SyndromeNARROW Xref: MeSH2011_6_17:D008059
Hurler Syndrome GargoylismNARROW Xref: MeSH2011_6_17:D008059
Hurler's DiseaseNARROW Xref: MeSH2011_6_17:D008059
Hurler's SyndromeNARROW Xref: MeSH2011_6_17:D008059
Hurler-Scheie SyndromeNARROW Xref: MeSH2011_6_17:D008059
Hurlers DiseaseNARROW Xref: MeSH2011_6_17:D008059
Hurlers SyndromeNARROW Xref: MeSH2011_6_17:D008059
Iduronate 2 Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D016532
Iduronate 2-Sulfatase DeficienciesNARROW Xref: MeSH2011_6_17:D016532
Iduronate 2-Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D016532
Iduronate Sulfatase DeficienciesNARROW Xref: MeSH2011_6_17:D016532
Iduronate Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D016532
IIIs, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D009084
IIs, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D016532
LipochondrodystrophiesNARROW Xref: MeSH2011_6_17:D008059
LipochondrodystrophyNARROW Xref: MeSH2011_6_17:D008059
Maroteaux Lamy SyndromeNARROW Xref: MeSH2011_6_17:D009087
Maroteaux-Lamy SyndromeNARROW Xref: MeSH2011_6_17:D009087
Morquio B DiseaseNARROW Xref: MeSH2011_6_17:D009085
Morquio B SyndromeNARROW Xref: MeSH2011_6_17:D009085
Morquio DiseaseNARROW Xref: MeSH2011_6_17:D009085
Morquio SyndromeNARROW Xref: MeSH2011_6_17:D009085
Morquio Syndrome ANARROW Xref: MeSH2011_6_17:D009085
Morquio Syndrome BNARROW Xref: MeSH2011_6_17:D009085
Morquio Syndrome, Type BNARROW Xref: MeSH2011_6_17:D009085
Morquio's DiseaseNARROW Xref: MeSH2011_6_17:D009085
Morquio's Disease Type BNARROW Xref: MeSH2011_6_17:D009085
Morquio's SyndromeNARROW Xref: MeSH2011_6_17:D009085
Morquio-B DiseaseNARROW Xref: MeSH2011_6_17:D009085
Morquios DiseaseNARROW Xref: MeSH2011_6_17:D009085
Morquios SyndromeNARROW Xref: MeSH2011_6_17:D009085
MPSEXACT Xref: Clinical Hepatology, 2004:Page 815
MPS III ANARROW Xref: MeSH2011_6_17:D009084
MPS III BNARROW Xref: MeSH2011_6_17:D009084
MPS III CNARROW Xref: MeSH2011_6_17:D009084
MPS III DNARROW Xref: MeSH2011_6_17:D009084
MucopolysaccharidosesEXACT Xref: MeSH2011_6_17:D009083, UMLS2011AA:C0026703
MucopolysaccharidosisEXACT Xref: MeSH2011_6_17:D009083, ICD9CM_2006:277.5, SNOMEDCT_2005_07_31:190936000
mucopolysaccharidosisEXACT Xref: CSP2005:1849-6106, HumanDO2011_6_18:DOID:12798
Mucopolysaccharidosis 1NARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis 2NARROW Xref: MeSH2011_6_17:D016532
Mucopolysaccharidosis 3NARROW Xref: MeSH2011_6_17:D009084
Mucopolysaccharidosis 4NARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis 4BNARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis 4BsNARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis 5NARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis 6NARROW Xref: MeSH2011_6_17:D009087
Mucopolysaccharidosis 7NARROW Xref: MeSH2011_6_17:D016538
Mucopolysaccharidosis INARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis I SNARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis I-SNARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis IINARROW Xref: MeSH2011_6_17:D016532
Mucopolysaccharidosis IIINARROW Xref: MeSH2011_6_17:D009084
Mucopolysaccharidosis IIIsNARROW Xref: MeSH2011_6_17:D009084
Mucopolysaccharidosis IIsNARROW Xref: MeSH2011_6_17:D016532
Mucopolysaccharidosis ISNARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis IVNARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis Type 2NARROW Xref: MeSH2011_6_17:D016532
Mucopolysaccharidosis Type 2sNARROW Xref: MeSH2011_6_17:D016532
Mucopolysaccharidosis Type 6NARROW Xref: MeSH2011_6_17:D009087
Mucopolysaccharidosis Type 6sNARROW Xref: MeSH2011_6_17:D009087
Mucopolysaccharidosis Type IV ANARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis Type IV BNARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis Type IVANARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis Type IVBNARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis Type IVBsNARROW Xref: MeSH2011_6_17:D009085
Mucopolysaccharidosis VNARROW Xref: MeSH2011_6_17:D008059
Mucopolysaccharidosis VINARROW Xref: MeSH2011_6_17:D009087
Mucopolysaccharidosis VIINARROW Xref: MeSH2011_6_17:D016538
Mucopolysaccharidosis VIIsNARROW Xref: MeSH2011_6_17:D016538
Mucopolysaccharidosis VIsNARROW Xref: MeSH2011_6_17:D009087
N-Acetylgalactosamine-4-Sulfatase DeficienciesNARROW Xref: MeSH2011_6_17:D009087
N-Acetylgalactosamine-4-Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D009087
Oligophrenia, PolydystrophicNARROW Xref: MeSH2011_6_17:D009084
Oligophrenias, PolydystrophicNARROW Xref: MeSH2011_6_17:D009084
Pfaundler Hurler SyndromeNARROW Xref: MeSH2011_6_17:D008059
Pfaundler-Hurler SyndromeNARROW Xref: MeSH2011_6_17:D008059
Polydystrophic DwarfismNARROW Xref: MeSH2011_6_17:D009087
Polydystrophic OligophreniaNARROW Xref: MeSH2011_6_17:D009084
Polydystrophic OligophreniasNARROW Xref: MeSH2011_6_17:D009084
San Filippo SyndromeNARROW Xref: MeSH2011_6_17:D009084
San Filippo's SyndromeNARROW Xref: MeSH2011_6_17:D009084
San Filippos SyndromeNARROW Xref: MeSH2011_6_17:D009084
Sanfilippo SyndromeNARROW Xref: MeSH2011_6_17:D009084
Sanfilippo's SyndromeNARROW Xref: MeSH2011_6_17:D009084
Sanfilippos SyndromeNARROW Xref: MeSH2011_6_17:D009084
Scheie SyndromeNARROW Xref: MeSH2011_6_17:D008059
Scheie's SyndromeNARROW Xref: MeSH2011_6_17:D008059
Sly DiseaseNARROW Xref: MeSH2011_6_17:D016538
Sly SyndromeNARROW Xref: MeSH2011_6_17:D016538
Sulfatase Deficiencies, IduronateNARROW Xref: MeSH2011_6_17:D016532
Sulfatase Deficiencies, SulfoiduronateNARROW Xref: MeSH2011_6_17:D016532
Sulfatase Deficiency, IduronateNARROW Xref: MeSH2011_6_17:D016532
Sulfatase Deficiency, SulfoiduronateNARROW Xref: MeSH2011_6_17:D016532
Sulfoiduronate Sulfatase DeficienciesNARROW Xref: MeSH2011_6_17:D016532
Sulfoiduronate Sulfatase DeficiencyNARROW Xref: MeSH2011_6_17:D016532
Syndrome A, MorquioNARROW Xref: MeSH2011_6_17:D009085
Syndrome, Hunter'sNARROW Xref: MeSH2011_6_17:D016532
Syndrome, Hurler'sNARROW Xref: MeSH2011_6_17:D008059
Syndrome, Hurler-ScheieNARROW Xref: MeSH2011_6_17:D008059
Syndrome, Maroteaux-LamyNARROW Xref: MeSH2011_6_17:D009087
Syndrome, Morquio BNARROW Xref: MeSH2011_6_17:D009085
Syndrome, Morquio'sNARROW Xref: MeSH2011_6_17:D009085
Syndrome, Pfaundler-HurlerNARROW Xref: MeSH2011_6_17:D008059
Syndrome, San Filippo'sNARROW Xref: MeSH2011_6_17:D009084
Syndrome, Sanfilippo'sEXACT Xref: MeSH2011_6_17:D009084
Syndrome, ScheieNARROW Xref: MeSH2011_6_17:D008059
Syndrome, Scheie'sNARROW Xref: MeSH2011_6_17:D008059
Syndrome, SlyNARROW Xref: MeSH2011_6_17:D016538
Syndromes, ScheieNARROW Xref: MeSH2011_6_17:D008059
Type 2, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D016532
Type 2s, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D016532
Type 6, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D009087
Type 6s, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D009087
VIIs, MucopolysaccharidosisNARROW Xref: MeSH2011_6_17:D016538
XrefClinical Hepatology,2004.Page 815
Clinical Hepatology, 2004:Page 815
HumanDO2011_6_18:DOID:12798
MeSH2011_6_17:D008059
MeSH2011_6_17:D009083
MeSH2011_6_17:D009084
MeSH2011_6_17:D009085
MeSH2011_6_17:D009087
MeSH2011_6_17:D016532
MeSH2011_6_17:D016538
UMLS2011AA:C0026703
Genetics RelationGene/Protein/Pathway
Gene:IDUA
Gene:IDS
Gene:SGSH
Gene:NAGLU
Gene:GNS
Gene:GALNS
Gene:GLB1
more...