Retinal disorders
Gene: IDUA
IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 15 panels
1 review
Siying Lin (Moorfields Eye Hospital)
Biallelic hypomorphic IDUA variants have been shown to cause late-onset retinal-predominant disease, including apparently non-syndromic retinitis pigmentosa, in a multi-centre cohort of 14 affected individuals from 12 unrelated families, supported by functional and biochemical validation.
Sources: LiteratureCreated: 7 Oct 2026, 7:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa; atteunated MPS I
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Retinitis pigmentosa
- atteunated MPS I
- OMIM
- 252800
- Clinvar variants
- Variants in IDUA
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Lysosomal storage disorder
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IH or S
- Retinal disorders
- Skeletal dysplasia
- Intellectual disability
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- DDG2P
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
7 Oct 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)gene: IDUA was added gene: IDUA was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 42838055 Phenotypes for gene: IDUA were set to Retinitis pigmentosa; atteunated MPS I Mode of pathogenicity for gene: IDUA was set to Other Review for gene: IDUA was set to GREEN