ALDH5A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neurotransmitter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• succinic semialdehyde dehydrogenase deficiency

  0.84

• epilepsy

  0.61

• bipolar disorder

  0.61

• Seizure

  0.60

• major depressive disorder

  0.57

• hereditary disease

  0.52

• migraine disorder

  0.52

• Generalized non-motor (absence) seizure

  0.47

• complex partial epilepsy

  0.46

• bipolar I disorder

  0.39

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

Protein function (UniProt)

Diseases associated with ALDH5A1

Curated MONDO disease pages that list ALDH5A1 among their top associated genes.

• bipolar disorderRare