DBH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• orthostatic hypotension 1

  0.77

• hypertensive disorder

  0.59

• essential hypertension

  0.57

• cardiovascular disorder

  0.52

• response to xenobiotic stimulus

  0.42

• hereditary disease

  0.42

• hypertension, pregnancy-induced

  0.33

• nicotine dependence

  0.33

• response to bronchodilator

  0.29

• diabetes mellitus

  0.29

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

Protein function (UniProt)

Diseases associated with DBH

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

• essential hypertensionRare