PDE4D

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• acrodysostosis 2 with or without hormone resistance

  0.81

• acrodysostosis

  0.69

• asthma

  0.68

• chronic obstructive pulmonary disease

  0.61

• atopic eczema

  0.60

• Oral ulcer

  0.60

• psoriasis

  0.60

• psoriasis vulgaris

  0.59

• psoriatic arthritis

  0.58

• Airway obstruction

  0.58

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

Protein function (UniProt)

Diseases associated with PDE4D

Curated MONDO disease pages that list PDE4D among their top associated genes.

• asthmaRare
• psoriasisRare
• chronic obstructive pulmonary diseaseRare
• atopic eczemaRare