CPS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  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

• Childhood onset dystonia, chorea or related movement disorder

• Extreme early-onset hypertension

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• carbamoyl phosphate synthetase I deficiency disease

  0.87

• Abnormality of the skeletal system

  0.58

• Hyperammonemia

  0.52

• venous thromboembolism

  0.52

• kidney failure

  0.50

• chronic kidney disease

  0.50

• hereditary disease

  0.50

• macular telangiectasia type 2

  0.50

• pulmonary arterial hypertension

  0.47

• inborn disorder of amino acid metabolism

  0.46

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

Protein function (UniProt)