|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-sulfatase) - causing MPS IIIA, NAGLU (coding for alpha-N-acetylglucosaminidase) - causing MPS IIIB, HGSNAT (coding for acetyl CoA alpha-glucosaminide acetyltransferase) - causing MPS IIIC), and GNS (coding for N-acetylglucosamine-6-sulfatase) - causing MPS IIID.
|
27100513 |
2016 |
|
MPS III D
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
MPS III D
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A series of genetic studies in the older sibling showed homozygous mutation in GNS gene compatible with MPS IIID.
|
27512882 |
2016 |
|
MPS III D
|
0.770 |
Biomarker
|
disease |
BEFREE |
MPS III results from a deficiency in one of the four enzymes involved in the heparan sulfate degradation, with sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), acetyl-coenzyme A: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS) being deficient respectively in MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID.
|
21910976 |
2011 |
|
MPS III D
|
0.770 |
Biomarker
|
disease |
BEFREE |
MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate.
|
20232353 |
2010 |
|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate.
|
20232353 |
2010 |
|
MPS III D
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
|
17998446 |
2007 |
|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired degradation of heparan sulfate.
|
17998446 |
2007 |
|
MPS III D
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.
|
12624138 |
2003 |
|
MPS III D
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.
|
12573255 |
2003 |
|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.
|
12573255 |
2003 |
|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This first report of a mutation in GNS resulting in MPS IIID indicates the potential utility of molecular diagnosis for this rare condition.
|
12573255 |
2003 |
|
MPS III D
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Both forms of caprine MPS IIID result from a nonsense mutation and consequent deficiency of lysosomal N-acetylglucosamine 6-sulfatase (G6S) activity and are associated with tissue storage and urinary excretion of heparan sulfate (HS).
|
9600207 |
1998 |
|
MPS III D
|
0.770 |
Biomarker
|
disease |
CTD_human |
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.
|
3391615 |
1988 |
|
MPS III D
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Mucopolysaccharidosis III
|
0.720 |
Biomarker
|
disease |
MGD |
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.
|
28334745 |
2017 |
|
Mucopolysaccharidosis III
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Mucopolysaccharidosis III
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Mucopolysaccharidosis III
|
0.720 |
GeneticVariation
|
disease |
LHGDN |
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
|
17998446 |
2007 |
|
Mucopolysaccharidosis III
|
0.720 |
GeneticVariation
|
disease |
LHGDN |
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.
|
12624138 |
2003 |
|
Mucopolysaccharidosis III
|
0.720 |
Biomarker
|
disease |
CTD_human |
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.
|
3391615 |
1988 |
|
Mucopolysaccharidosis Type IIIA
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Based on analysis performed in Brazilian patients, using a customized gene panel containing SGSH, NAGLU, HGSNAT and GNS we observed that rs659497" genes_norm="4669">p.Ser141Ser (rs659497) and p.Arg737Gly (rs86312) variants were present in homozygosis in all of our MPS IIIB patients and in the majority of MPS IIIA, IIIC and IIID patients, and there was no significant decrease of the alpha-N-acetyl-D-glucosaminidase enzyme activity in this group when compared with those without the "pseudodeficiency allele".
|
31088528 |
2019 |
|
Mucopolysaccharidosis Type IIIA
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively.
|
28921412 |
2018 |
|
Mucopolysaccharidosis Type IIIA
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-sulfatase) - causing MPS IIIA, NAGLU (coding for alpha-N-acetylglucosaminidase) - causing MPS IIIB, HGSNAT (coding for acetyl CoA alpha-glucosaminide acetyltransferase) - causing MPS IIIC), and GNS (coding for N-acetylglucosamine-6-sulfatase) - causing MPS IIID.
|
27100513 |
2016 |