IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II. 31029429 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder (LSD), caused by iduronate 2-sulphatase (IDS) enzyme dysfunction. 31039347 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial. 30595526 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disorder resulting from the deficiency of the enzyme iduronate-2-sulfatase (IDS).This study described the molecular characteristics of 63 Chinese children with MPS II and investigated functional characterization of seven novel IDS variants. 30639582 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene. 31071499 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
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
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the enzyme iduronate 2-sulfatase (IDS), which leads to the accumulation of glycosaminoglycans in most organ-systems, including the brain, and resulting in neurological involvement in about two-thirds of the patients. 31022913 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE The purpose of this article is to demonstrate a rare case of Hunter syndrome in a girl caused by a mutation in the IDS gene inherited from the mother and the presence of chromosome X of paternal origin, partially deleted in the long arm region - 46,X,del(X)(q22.1). 31046699 2019
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE We believe that we have developed a safe and effective gene therapy for treating MPS II, which led to recent IND approval for a phase 1/2 clinical trial in MPS II patients, further supporting the extended potential of the demonstrated systemic rAAV9 gene delivery platform for broad disease targets. 30191159 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Hunter syndrome (Mucopolysaccharidosis II, MPS II) is an X-linked lysosomal storage disease produced by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). 29633336 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. 30024503 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE However, a chaperone compound for mucopolysaccharidosis type II (MPS II), which is an X-linked lysosomal storage disorder characterized by a deficiency of iduronate-2-sulfatase (IDS) and the accumulation of glycosaminoglycans (GAGs), has still not been developed. 29289480 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. 29618310 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis II (MPS II) is an X-linked recessive lysosomal storage disease caused by mutations in the iduronate-2-sulfatase (IDS) gene. 29606503 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE To evaluate physical functioning and daily activity limitations of patients with MPS II, the multidomain shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) questionnaire was previously developed and preliminarily validated. 30409228 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Hunter syndrome (MPS II, OMIM 309900) is a lysosomal storage disorder due to deficient iduronate sulphatase activity. 28918469 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. 30042467 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE We recently developed a BBB-penetrating IDS fusion protein, JR-141, and demonstrated its ability to reduce GAG accumulation in the brain of human transferrin receptor knock-in and Ids knock-out mice (TFRC-KI/Ids-KO), an animal model of MPS II, following intravenous administration. 30064964 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE We also show that MPSII patient fibroblasts harboring different mutations spanning the IDS gene exhibit perturbed FGF signaling-related markers expression. 29648648 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). 29168031 2018
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE IDS is responsible for the lysosomal degradation of heparan sulfate and dermatan sulfate and linked to an X-linked lysosomal storage disease, mucopolysaccharidosis 2 (MPS2), resulting in neurological damage and early death. 28401457 2017
CUI: C0026705
Disease: Mucopolysaccharidosis II
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
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker disease BEFREE Antibodies to intravenous idursulfase enzyme replacement therapy (ERT) for patients with Hunter syndrome (mucopolysaccharidosis type II, MPS II) can have a harmful clinical impact, including both increasing risk of infusion reactions and inhibiting therapeutic activity. 28610913 2017
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 AlteredExpression disease BEFREE Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. 28243577 2017
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 CausalMutation disease CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157 2017