IDUA Chromosome 4
Alpha-L-iduronidase
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What This Gene Does
This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000127415
Associated Conditions (20)
Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis
MPS-I-H/S
MPS-I-S
Inborn genetic diseases
IDUA PSEUDODEFICIENCY
IDUA-related disorder
MPS-IV-A
IDUA-related core myopathy
MPS-II
See cases
Autosomal recessive IDUA-related disorders
Interstitial pneumonitis
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Familial hypokalemia-hypomagnesemia
Key Variants
RS115790973
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
Health Risk
RS11934801
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
Health Risk
RS121965021
Conflicting classifications of pathogenicity
Hurler syndrome, Mucopolysaccharidosis type 1, Mucopolysaccharidosis
Health Risk
RS121965030
Conflicting classifications of pathogenicity
IDUA PSEUDODEFICIENCY, Hurler syndrome, Mucopolysaccharidosis type 1
Health Risk
RS1256735931
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
Health Risk
RS1292032609
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis
Health Risk
RS1315308939
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
Health Risk
RS1358581212
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Inborn genetic diseases, Mucopolysaccharidosis type 1
Health Risk
RS138195998
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Inborn genetic diseases, Mucopolysaccharidosis type 1
Health Risk
RS138826105
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mucopolysaccharidosis type 1, Inborn genetic diseases
Health Risk
RS140564189
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 1, Inborn genetic diseases, IDUA-related disorder
Health Risk
RS1416427527
Conflicting classifications of pathogenicity
Hurler syndrome, Mucopolysaccharidosis, MPS-I-S
Health Risk
All Variants (344)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553917580 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS1553917733 | Health Risk | Likely pathogenic | Hurler syndrome, Mucopolysaccharidosis type 1, Hurler syndrome |
| RS1553917735 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS1553917737 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS1553917746 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS1553917747 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS1553917756 | Health Risk | Likely pathogenic | Hurler syndrome, Mucopolysaccharidosis type 1, Hurler syndrome |
| RS1560545883 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS1715069355 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS1715086540 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS1715178056 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS1715210435 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS1715216061 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS1715218377 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS1715262294 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS199794428 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS200448421 | Health Risk | Likely pathogenic | Hurler syndrome, Mucopolysaccharidosis type 1, Mucopolysaccharidosis |
| RS2153015588 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2153021634 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS2153021904 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2153021978 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2153022881 | Health Risk | Likely pathogenic | Hurler syndrome, Mucopolysaccharidosis type 1, Hurler syndrome |
| RS2153022944 | Health Risk | Likely pathogenic | — |
| RS2153022990 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2153023301 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS2534003263 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534003429 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534008343 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534077097 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2534077519 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534077620 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS2534079094 | Health Risk | Likely pathogenic | IDUA-related disorder, IDUA-related disorder |
| RS2534079401 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534082785 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534084817 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2534084879 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534084987 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534085607 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534087208 | Health Risk | Likely pathogenic | IDUA-related core myopathy, Mucopolysaccharidosis type 1, Mucopolysaccharidosis |
| RS2534089061 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534089588 | Health Risk | Likely pathogenic | — |
| RS2534089880 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534090101 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534092430 | Health Risk | Likely pathogenic | — |
| RS2534092933 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2534097045 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2534097292 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534098579 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis |
| RS2534099860 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1 |
| RS2534102903 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis |