Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
SLC26A1 c.*975G>A, IDUA p.Gln70Ter (p.Q70*)
(
ENST00000247933.9,
ENST00000514224.2,
ENST00000361661.6,
ENST00000398516.3,
ENST00000398520.6,
ENST00000622731.4 )
SLC26A1 c.*917C>T, IDUA p.Arg89Gln (p.R89Q) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 )
IDUA p.Trp402Ter (p.W402*) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Trp402Ter (p.W402*) ( ENST00000247933.9, ENST00000514224.2 )
SLC26A1 c.*975G>A, IDUA p.Gln70Ter (p.Q70*) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 )
SLC26A1 c.*917C>T, IDUA p.Arg89Gln (p.R89Q) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 ) - Associated Disease
- Pfaundler-Hurler Syndrome
- Source Database
- DisGeNET
- Description
- 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.
- Pubmed
- 8664897
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.452410381245573
- Year of publication
- 1996
Drugs