Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is an inherited disease caused by beta-glucuronidase (beta-glu) deficiency.
|
11906211 |
2002 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is caused by dysfunction of the acid hydrolase beta-D-glucuronidase.
|
12121741 |
2002 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
MGD |
Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an autosomal recessive lysosomal storage disease caused by beta-glucuronidase (GUS) deficiency.
|
12700165 |
2003 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is caused by the deficiency of the lysosomal hydrolase β-glucuronidase.
|
20864369 |
2010 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is characterized by deficient β-glucuronidase (GUSB) activity, which leads to accumulation of chondroitin, heparan and dermatan sulfate glycosaminoglycans (GAGs), and multisystemic disease.
|
22513347 |
2012 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is a very rare lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase (GUS), which is required for the degradation of three glycosaminoglycans (GAGs): dermatan sulfate, heparan sulfate, and chondroitin sulfate.
|
25468648 |
2015 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase.
|
27648682 |
2017 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme β-glucuronidase.
|
30091163 |
2018 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by deficient β-glucuronidase (β-gluc) activity.
|
30413728 |
2018 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis VII (MPS VII) is a recessively inherited lysosomal storage disorder caused by β-glucuronidase enzyme deficiency.
|
30459155 |
2018 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII, Sly Syndrome) is a progressive, debilitating, ultra-rare lysosomal storage disorder caused by the deficiency of β-glucuronidase (GUS), an enzyme required for breakdown of glycosaminoglycans (GAGs).
|
30467742 |
2019 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis Type VII (MPS7, also called β-glucuronidase deficiency or Sly syndrome; MIM 253220) is an extremely rare autosomal recessive lysosomal storage disease, caused by mutations in the GUSB gene.
|
30653816 |
2019 |
Mucopolysaccharidosis VII
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mucopolysaccharidosis type VII is a lysosomal storage disease resulting from a deficiency of beta-glucuronidase (BG) activity.
|
3924735 |
1985 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an autosomal recessively inherited lysosomal storage disease caused by a deficiency in beta-glucuronidase.
|
8707294 |
1996 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an autosomal recessively inherited lysosomal storage disease caused by a deficiency in beta-glucuronidase.
|
8707294 |
1996 |
Mucopolysaccharidosis VII
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is an inherited disease resulting from deficient activity of the lysosomal acid hydrolase beta-glucuronidase (GUSB) and has been reported in humans, mice, cats, and dogs.
|
9521879 |
1998 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of beta-glucuronidase (GUSB) causes the multisystem progressive degenerative syndrome, mucopolysaccharidosis (MPS) type VII (Sly disease), which includes mental retardation.Animal homologues of MPS VII (ref.
|
9212105 |
1997 |
Mucopolysaccharidosis VII
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A family of domestic cats was found that exhibited clinical and biochemical abnormalities consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder caused by beta-glucuronidase deficiency. beta-Glucuronidase activity was undetectable in affected cat fibroblasts and restored by retroviral gene transfer of rat beta-glucuronidase cDNA. beta-Glucuronidase mRNA was normal in affected cat testis by Northern blot analysis.
|
10366443 |
1999 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.
|
22815736 |
2012 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.
|
11228259 |
2001 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
MGD |
A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.
|
11228259 |
2001 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A point mutation which occurred in the human beta-glucuronidase gene in a patient with mucopolysaccharidosis type VII was also conserved.
|
1318788 |
1992 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A recombinant adenovirus carrying the human beta-glucuronidase cDNA coding region under the control of a non-tissue-specific promoter was injected intravitreally or subretinally into the eyes of mice with mucopolysaccharidosis VII.
|
7644479 |
1995 |