DDC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  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

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Disease associations (Open Targets)

• aromatic L-amino acid decarboxylase deficiency

  0.84

• Parkinson disease

  0.62

• hereditary disease

  0.51

• Abnormality of the skeletal system

  0.50

• injury

  0.50

• inborn disorder of amino acid metabolism

  0.46

• Global developmental delay

  0.40

• postencephalitic Parkinson disease

  0.38

• Dystonia

  0.37

• oculogyric crisis

  0.37

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

Protein function (UniProt)

Diseases associated with DDC

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

• Parkinson diseaseRare