|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
<b>Aim:</b> Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by a deficiency of the iduronate-2-sulfatase enzyme leading to the accumulation of heparan sulfate (HS) and dermatan sulfate (DS) in organs and biological fluids. enzyme-replacement therapy is available for affected patients.
|
30994022 |
2019 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hunter disease (mucopolysaccharidosis type II or MPS II) is an X-linked recessive disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS) (E.C.3.1.6.13.) involved in the catabolism of mucopolysaccharides dermatan sulfate and heparan sulfate.
|
10215411 |
1998 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hunter disease (mucopolysaccharidosis type II or MPS II) is an X-linked recessive disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS) (E.C.3.1.6.13.) involved in the catabolism of mucopolysaccharides dermatan sulfate and heparan sulfate.
|
10215411 |
1998 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (Mucopolysaccharidosis type II, MPS2) is an X-linked recessively inherited disease caused by a deficiency of iduronate 2 sulfatase (IDS).
|
12655569 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS).
|
12794697 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS).
|
12794697 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS).
|
12794697 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPSII; Hunter syndrome) is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate 2-sulfatase (IDS).
|
16505002 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis II (MPS II; Hunter syndrome) is an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S), which catalyzes the catabolism of glycosaminoglycans (GAG) by cleaving the O-linked sulfate from dermatan sulfate and heparan sulfate.
|
17459751 |
2007 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
MGD |
Mucopolysaccharidosis II (MPS II, Hunter syndrome in humans) is an X-linked inherited lysosomal storage disease caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase (I2S).
|
17876721 |
2007 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis II (MPS II, Hunter syndrome in humans) is an X-linked inherited lysosomal storage disease caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase (I2S).
|
17876721 |
2007 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare X-linked lysosomal storage disorder caused by the deficiency of enzyme iduronate-2-sulfatase (I2S), which results in accumulation of undegraded dermatan and heparan sulfate in various tissues and organs.
|
18174963 |
2007 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked inherited disorder caused by a deficiency of the enzyme iduronate-2-sulfatase (IDS), which results in the lysosomal accumulation of glycosaminoglycans (GAG) such as dermatan and heparan sulfate.
|
20652491 |
2010 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG).
|
21319344 |
2011 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs.
|
21334454 |
2011 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare, X-linked disorder of glycosaminoglycan (GAG) catabolism caused by a deficiency in the activity of the lysosomal enzyme, iduronate-2-sulfatase (I2S).
|
22105882 |
2012 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS).
|
22227323 |
2012 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
MGD |
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS) and is characterized by the accumulation of glycosaminoglycans (GAGs).
|
22704483 |
2012 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations.
|
23800320 |
2013 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase (IDS) gene.
|
24780617 |
2014 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the iduronate 2-sulfatase (IDS) enzyme, causing progressive neurodegeneration in patients.
|
27512952 |
2016 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) is caused by deficiency of lysosomal enzyme iduronate-2-sulfatase.
|
28011272 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase.
|
28464912 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermatan sulfate, in the lysosomes.
|
28588666 |
2017 |