PKD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Ductal plate malformation

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Polycystic liver disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare multisystem ciliopathy disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Renal ciliopathies

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Cerebral vascular malformations

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal dominant polycystic kidney disease

  0.83

• cystic kidney disease

  0.74

• hypertensive disorder

  0.71

• polycystic kidney disease

  0.69

• stage 5 chronic kidney disease

  0.68

• Renal insufficiency

  0.66

• autosomal recessive polycystic kidney disease

  0.65

• chronic kidney disease

  0.64

• kidney failure

  0.64

• Genetic renal or urinary tract malformation

  0.60

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

Protein function (UniProt)

Diseases associated with PKD1

Curated MONDO disease pages that list PKD1 among their top associated genes.

• hereditary diseaseRare
• hypertensive disorderRare
• chronic kidney diseaseRare
• kidney disorderRare