L2HGDH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• L-2-hydroxyglutaric aciduria

  0.82

• neurodegenerative disease

  0.51

• hereditary disease

  0.45

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• lysosomal storage disease

  0.37

• gout

  0.34

• hypertensive disorder

  0.32

• kidney failure

  0.31

• type 2 diabetes mellitus

  0.30

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

Protein function (UniProt)

Diseases associated with L2HGDH

Curated MONDO disease pages that list L2HGDH among their top associated genes.

• nonpapillary renal cell carcinomaRare