|
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 |
|
|
|