Gene: IDUA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965021
rs121965021
IDUA
G 0.830 CausalMutation CLINVAR Most of the Tunisian MPS I patients have been identified at the homozygous status: p.P533R mutation (7 homozygous and one double heterozygous p.L578Q/p.P533R patients; 41.66% of all the investigated MPSI patients), p.F177S (1 homozygous patient; 5.55%), p.L530fs (1 patient; 5.55%), p.Y581X (2 patients; 11.11%), p.F602X (3 patients; 16.66%), p.R628X (1 patient; 5.55%). 22074387

2011
dbSNP: rs121965021
rs121965021
IDUA
G 0.830 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825

2011
dbSNP: rs121965021
rs121965021
IDUA
G 0.830 CausalMutation CLINVAR Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects. 10738517

1999
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. 27511503

2016
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846

2013
dbSNP: rs1430681871
rs1430681871
IDUA
A 0.800 GeneticVariation CLINVAR Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. 21480867

2012
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825

2011
dbSNP: rs794727896
rs794727896
IDUA
G 0.800 GeneticVariation CLINVAR Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. 21963080

2011
dbSNP: rs794727896
rs794727896
IDUA
G 0.800 GeneticVariation CLINVAR Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H). 21253827

2011
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. 19396826

2009
dbSNP: rs794727896
rs794727896
IDUA
G 0.800 GeneticVariation CLINVAR Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). 17606547

2007
dbSNP: rs1430681871
rs1430681871
IDUA
A 0.800 GeneticVariation CLINVAR Eleven different mutations including two common mutations (Q70X, W402X), five recurrent mutations (D315Y, P533R, R621X, R628X, S633L), and four novel mutations (R162I, G208D, 1352delG, 1952del25bp) were identified from MPS I patients. 12509712

2003
dbSNP: rs1430681871
rs1430681871
IDUA
A 0.800 GeneticVariation CLINVAR Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846

2003
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846

2003
dbSNP: rs794727896
rs794727896
IDUA
G 0.800 GeneticVariation CLINVAR Usefulness of bone marrow transplantation in the Hurler syndrome. 14516901

2003
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. 12203999

2002
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. 9748610

1998
dbSNP: rs199801029
rs199801029
IDUA
C 0.800 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 7951228

1994
dbSNP: rs121965024
rs121965024
IDUA
C 0.800 CausalMutation CLINVAR

dbSNP: rs991612107
rs991612107
IDUA
A 0.740 CausalMutation CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159

2014
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846

2013
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768

2013
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
T 0.740 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846

2013
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
T 0.740 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825

2011