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Disease Mucopolysaccharidosis III

Name Mucopolysaccharidosis III
Synonyms Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies | Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency | Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency | Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase | Deficiencies, N-Acetyl-alpha-D-Glucosaminidase | Deficiencies, N-Acetylglucosamine-6-Sulfatase | Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase | Deficiencies, NAGLU | Deficiencies, Sulfamidase | Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase | Deficiency, N-Acetyl-alpha-D-Glucosaminidase | Deficiency, N-Acetylglucosamine-6-Sulfatase | Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase | Deficiency, NAGLU | Deficiency, Sulfamidase | Heparan Sulfate Sulfatase Deficiency | MPS3A | MPS 3 A | MPS3B | MPS 3 B | MPS3C | MPS 3 C | MPS3D | MPS 3 D | MPS IIIA | MPS III A | MPS IIIB | MPS III B | MPS IIIC | MPS III C | MPS IIID | MPS III D | MPS IIIDs | Mucopolysaccharidosis 3 | Mucopolysaccharidosis IIIs | Mucopolysaccharidosis Type 3 A | Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome | Mucopolysaccharidosis Type 3 B | Mucopolysaccharidosis Type 3 C | Mucopolysaccharidosis Type 3 D | Mucopolysaccharidosis Type IIIA | MUCOPOLYSACCHARIDOSIS, TYPE IIIA | Mucopolysaccharidosis Type IIIAs | Mucopolysaccharidosis Type IIIB | MUCOPOLYSACCHARIDOSIS, TYPE IIIB | Mucopolysaccharidosis Type IIIBs | Mucopolysaccharidosis Type IIIC | MUCOPOLYSACCHARIDOSIS, TYPE IIIC | Mucopolysaccharidosis Type IIICs | Mucopolysaccharidosis Type IIID | MUCOPOLYSACCHARIDOSIS, TYPE IIID | Mucopolysaccharidosis Type IIIDs | N-Acetyl-alpha-D-Glucosaminidase Deficiencies | N Acetyl alpha D Glucosaminidase Deficiency | N-Acetyl-alpha-D-Glucosaminidase Deficiency | N-Acetylglucosamine-6-Sulfatase Deficiencies | N Acetylglucosamine 6 Sulfatase Deficiency | N-Acetylglucosamine-6-Sulfatase Deficiency | N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies | N Acetylglucosamine 6 Sulfate Sulfatase Deficiency | N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency | N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide | N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide | NAGLU Deficiencies | NAGLU Deficiency | Oligophrenia, Polydystrophic | Oligophrenias, Polydystrophic | Polydystrophic Oligophrenia | Polydystrophic Oligophrenias | Sanfilippo's Syndrome | Sanfilippos Syndrome | San Filippo's Syndrome | San Filippos Syndrome | Sanfilippo Syndrome | San Filippo Syndrome | Sanfilippo Syndrome A | Sanfilippo Syndrome B | Sanfilippo Syndrome C | Sanfilippo Syndrome D | Sanfilippo Syndromes | Sulfamidase Deficiencies | Sulfamidase Deficiency | Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate | Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate | Syndrome, Sanfilippo | Syndrome, Sanfilippo's | Syndrome, San Filippo's | Syndromes, Sanfilippo
Definition Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Categories Connective tissue disease | Genetic disease (inborn) | Metabolic disease
MeSH® ID D009084
OMIM® IDs 252900 | 252920 | 252930 | 252940
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1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis III Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis III Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Mucinoses Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis III Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis III Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis III Has associated chemicals Has associated genes

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