|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe, rare autosomal recessive disorder caused by variants in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene which result in lysosomal accumulation of heparan sulfate.
|
31228227 |
2019 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.
|
27733599 |
2017 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT.
|
27733599 |
2017 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Finally, in HGSNAT gene, we found the splicesite mutation c.234+1G>A that had already been reported as relatively frequent in MPS IIIC patients from countries surrounding the basin of the Mediterranean sea.
|
28101780 |
2017 |
|
Mucopolysaccharidosis III
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Mucopolysaccharidosis III
|
0.800 |
Biomarker
|
disease |
MGD |
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.
|
27491071 |
2016 |
|
MPS III C
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
MPS III C
|
0.800 |
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 |
|
Mucopolysaccharidosis III
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
|
26287674 |
2015 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene and characterized by progressive neurological deterioration, with retinal degeneration as a prominent feature.
|
25859010 |
2015 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
MPS III C
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
|
25859010 |
2015 |
|
MPS III C
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
|
24767253 |
2014 |
|
MPS III C
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
|
25491247 |
2014 |
|
MPS III C
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
|
24767253 |
2014 |
|
MPS III C
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
|
23301227 |
2013 |
|
Mucopolysaccharidosis III
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |
|
MPS III C
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |
|
Mucopolysaccharidosis III
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
|
20583299 |
2010 |
|
Mucopolysaccharidosis III
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C.
|
21048366 |
2010 |
|
MPS III C
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
54 variants of the HGSNAT gene have been identified in MPS IIIC patients thus far, 22 of which are missense mutations.
|
20583299 |
2010 |