Gene
IDUA
alpha-L-iduronidase
- HGNC 5391(opens in a new tab)
- Ensembl gene ENSG00000127415(opens in a new tab)
- NCBI Gene 3425(opens in a new tab)
Summary
- Cytogenetic location
- 4p16.3
- Coordinates
- Chromosome 4: 987,044–1,004,564 (GRCh38)
- Exons
- 14 exons across 17.5 kb
- Protein
- 653 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- MPS1, MPSI
- MANE Select transcript
- ENST00000514224.2NM_000203.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)
- Mucopolysaccharidosis type I (Hurler, Hurler-Scheie and Scheie syndromes)Autosomal recessive
Deficiency of alpha-L-iduronidase causes glycosaminoglycans to build up, leading to coarse facial features, skeletal changes, joint stiffness, corneal clouding, heart valve disease and, in Hurler syndrome, developmental decline.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis allows haematopoietic stem cell transplant in severe Hurler syndrome and enzyme replacement therapy (laronidase) for all forms; MPS I is included in some newborn screening programmes.
Broader groupings
Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How IDUA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 17.5 kb; 1,962 of those bases code for the protein.
How a genome test reads IDUA
368
positions in IDUA where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 17.5 kb of IDUA, introns included, not only the 2.2 kb of exons.
Variants with a page (128)
The IDUA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A75T | c.223G>A | Exon 2 | 987,873 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A79V | c.236C>T | Exon 2 | 987,886 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A319V | c.956C>T | Exon 7 | 1,002,145 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A361Gfs*79 | c.1082del | Exon 8 | 1,002,377 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>C | Exon 1 | 987,085 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 987,085 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 987,086 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 1 | 987,087 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.159-1_159insC | Intron 1 | 987,808 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.300-3C>G | Intron 2 | 1,000,609 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to IDUA
The Human Phenotype Ontology lists these as features of the rare conditions IDUA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Dysostosis multiplex
- Hand pain
- Joint stiffness
- Abnormal skeletal development
- Abnormal vertebral morphology
- Abnormality of the skeletal system
- Hernia
- Limitation of joint mobility
Show 16 more traits
- Low muscle tone
- Abnormal collarbone
- Abnormal shape of end part of bone
- Abnormality of the ribs
- C1-C2 subluxation
- Narrow pelvis bone
- Narrow spinal canal
- Scoliosis
- Spastic paraparesis
- Biconcave vertebral bodies
- Displacement of one backbone compared to another
- Flared iliac wing
- Flexed joint that cannot be straightened
- Hunched back
- Hypoplasia of the odontoid process
- Short collarbone
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IDUA gene: alpha-L-iduronidase. Retrieved 17 October 2026, from https://dantelabs.com/genes/idua
Dante Labs. IDUA gene: alpha-L-iduronidase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/idua
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