|
rs1046551417
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
|
rs1046551417
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
|
27590925 |
2016 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
|
26331342 |
2016 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Sanfilippo syndrome: causes, consequences, and treatments.
|
26648750 |
2015 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
|
15146460 |
2004 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
As the combined frequency of the common mutations (R74C and R245H) in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.
|
9401012 |
1997 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
|
10601282 |
1999 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Of 39 patients, for whom we have uniform clinical details, 13 MPS IIIA patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, containing respectively one or no R245H alleles.
|
9700599 |
1998 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
|
9285796 |
1997 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
|
24816101 |
2014 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs.
|
22976788 |
2012 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
|
18407553 |
2008 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
|
11343308 |
2001 |
|
rs104894635
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.
|
27896117 |
2014 |
|
rs104894635
|
|
Movement Disorders
|
T |
0.700 |
CausalMutation
|
CLINVAR |
How close are we to therapies for Sanfilippo disease?
|
28921412 |
2018 |
|
rs104894635
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
|
21671382 |
2011 |
|
rs104894635
|
|
Movement Disorders
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.
|
23385295 |
2013 |
|
rs104894635
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs104894635
|
|
Movement Disorders
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
|
12687673 |
2003 |
|
rs104894635
|
|
Mucopolysaccharidosis III
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |
|
rs104894635
|
|
Movement Disorders
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
|
21671382 |
2011 |