ALAD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cutaneous photosensitivity with a likely genetic cause

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Non-acute porphyrias

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• porphyria due to ALA dehydratase deficiency

  0.75

• Acute hepatic porphyria

  0.72

• neurodegenerative disease

  0.24

• hereditary disease

  0.19

• renal cell carcinoma

  0.08

• breast cancer

  0.08

• breast carcinoma

  0.08

• Hyperlipoproteinemia type 1

  0.06

• hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

  0.05

• Hereditary persistence of fetal hemoglobin - beta-thalassemia

  0.05

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

Protein function (UniProt)