IDUA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Mucopolysaccharideosis, Gaucher, Fabry

  BIALLELIC, autosomal or pseudoautosomal

• Mucopolysaccharidosis type IH or S

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Hurler syndrome

  0.85

• Scheie syndrome

  0.85

• Hurler-Scheie syndrome

  0.85

• mucopolysaccharidosis type 1

  0.81

• mucopolysaccharidosis

  0.70

• hereditary disease

  0.51

• nephrolithiasis susceptibility caused by SLC26A1

  0.50

• nephrolithiasis, calcium oxalate

  0.46

• calcium oxalate urolithiasis

  0.46

• bone fracture

  0.45

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)