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GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol PEPD
Location 19q13.1
Name prolidase deficiency
Corresponding gene PEPD
Main clinical features
  • variable expression from no manifestation to severe progressive skin ulceration, decreased resistance to infection, impaired cognitive development
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    mental retardation
    dermatology
    Type disease
    Gene product
    Name peptidase D (PEPD)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein R265X leading to stop codon