Prolidase Deficiency (PEPD)

Prolidase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene PEPD. A higher incidence of this disorder has been observed in northern Israel. The onset of this condition typically occurs during infancy, though late-onset cases have been observed. The symptoms and severity vary greatly among affected individuals, even in the same family. Infants may have splenomegaly (enlarged spleen), hepatomegaly (enlarged liver), diarrhea, vomiting, and dehydration and are at great risk for severe infections of the skin, ears, and respiratory tract. Skin lesions often develop in childhood on the hands, feet, lower legs, and face. The severity ranges from a mild rash to severe skin ulcers that do not heal properly and increase the chances of complications such as infection and amputation. Other symptoms include distinctive facial features, lymphedema, short stature, hirsutism, anemia, thrombocytopenia (low platelet count), developmental delay, and intellectual disability. Some individuals remain asymptomatic. Severe infections, particularly in the respiratory tract, may cause early death. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):