SLC26A1, solute carrier family 26 member 1, 10861

N. diseases: 33; N. variants: 24
Disease: Pfaundler-Hurler Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		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
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.740 GeneticVariation BEFREE Here we describe a previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation. 21831683 2011
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		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
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		T 0.740 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: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.740 GeneticVariation BEFREE The premature stop codons Q70X and W402X are two of the most common alpha-l-iduronidase gene (IDUA) mutations accounting for up to 70% of MPS I disease alleles in some populations. 15081804 2004
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.740 GeneticVariation BEFREE We found that a Hurler syndrome fibroblast cell line heterozygous for the IDUA stop mutations Q70X and W402X showed a significant increase in alpha-L-iduronidase activity when cultured in the presence of gentamicin, resulting in the restoration of 2.8% of normal alpha-L-iduronidase activity. 11159948 2001
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		T 0.740 CausalMutation CLINVAR In this study, 85 MPS I families (73 Hurler, 5 Hurler/Scheie, 7 Scheie) were screened for 9 known mutations (Q70X, A75T, 474-2a>g, L218P, A327P, W402X, P533R, R89Q, 678-7g>a). 11735025 2001
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		T 0.740 CausalMutation CLINVAR Patient with Q70X/Q70X genotype had a severe Hurler phenotype. 10215409 1998
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.740 GeneticVariation BEFREE Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity for the W402X and Q70X mutations are the common causes of MPS-I with a severe form (Hurler syndrome), and (2) the presence of R89Q may lead to a milder phenotype. 8664897 1996
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		T 0.740 CausalMutation CLINVAR alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. 1301941 1992