PRPS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary neuropathy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Hereditary neuropathy or pain disorder

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Monogenic hearing loss

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Retinal disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• phosphoribosylpyrophosphate synthetase superactivity

  0.80

• Charcot-Marie-Tooth disease X-linked recessive 5

  0.78

• Arts syndrome

  0.76

• X-linked nonsyndromic hearing loss

  0.73

• Lethal ataxia with deafness and optic atrophy

  0.68

• X-linked hereditary sensory and autonomic neuropathy with deafness

  0.66

• X-linked Charcot-Marie-Tooth disease type 5

  0.65

• Charcot-Marie-Tooth disease

  0.63

• Retinal dystrophy

  0.53

• inherited retinal dystrophy

  0.46

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

Protein function (UniProt)

Diseases associated with PRPS1

Curated MONDO disease pages that list PRPS1 among their top associated genes.

• Charcot-Marie-Tooth diseaseRare