ALDH18A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Corneal abnormalities

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• ALDH18A1-related de Barsy syndrome

  0.83

• cutis laxa, autosomal dominant 3

  0.82

• autosomal recessive complex spastic paraplegia type 9B

  0.81

• de Barsy syndrome

  0.73

• autosomal dominant spastic paraplegia type 9

  0.71

• autosomal dominant cutis laxa

  0.68

• hereditary disease

  0.49

• P5CS deficiency

  0.45

• cutis laxa

  0.37

• Intellectual disability

  0.35

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

Protein function (UniProt)