GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Therapeutic efficacy for MPSVII was evaluated in and ex vivo experiments using these encapsulated genetically engineered GUSB-encoding IHAE cells. 16636519 2006
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE We identified two different exonic point mutations causing beta-glucuronidase (beta G1) deficiency in two Japanese patients with mucopolysaccharidosis type VII (MPSVII). 1702266 1991
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 CausalMutation disease CLINVAR Human β-glucuronidase: structure, function, and application in enzyme replacement therapy. 23777470 2013
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease MGD Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. 2495302 1989
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 CausalMutation disease CLINVAR Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524 1993
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. 7633414 1995
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease UNIPROT Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. 12522561 2003
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE In this novel strategy, the xenotransplanted murine recipients were also GUSB-deficient, allowing a detailed evaluation of therapeutic efficacy in a host with MPSVII. 15194052 2004
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 AlteredExpression disease BEFREE Transgenic mice homozygous for the mucopolysaccharidosis VII mutation expressed high levels of human beta-glucuronidase activity in all tissues examined and were phenotypically normal. 2111021 1990
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 CausalMutation disease CLINVAR Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 19224584 2009
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease UNIPROT Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. 7633414 1995
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease UNIPROT Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417 2003
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease GENOMICS_ENGLAND Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. 24284886 2014
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Delivery of a retroviral vector expressing human beta-glucuronidase to the liver and spleen decreases lysosomal storage in mucopolysaccharidosis VII mice. 10985954 2000
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE MSC-derived exosomes were able to fuse with the lysosomes within corneal cells, enabling delivering of MSC-derived active β-glucuronidase and consequent catabolism of accumulated glycosaminoglycans, indicating their therapeutic potential in the treatment of Mucopolysaccharidosis VII (Sly Syndrome). 29774506 2019
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease UNIPROT Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. 8111413 1993
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain. 24343103 2014
CUI: C0085132
Disease: Mucopolysaccharidosis VII
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