Prolidase Deficiency

Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.

Year introduced: 2010

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Tree Number(s): C16.131.077.735, C16.131.831.720, C16.320.565.100.794, C16.320.850.746

MeSH Unique ID: D056732

Entry Terms:

• Deficiencies, Prolidase
• Deficiency, Prolidase
• Prolidase Deficiencies
• Imidodipeptidase Deficiency
• Deficiencies, Imidodipeptidase
• Deficiency, Imidodipeptidase
• Imidodipeptidase Deficiencies
• Hyperimidodipeptiduria
• Hyperimidodipeptidurias

Previous Indexing:

• Dipeptidases (1972-2009)

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Prolidase Deficiency

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Skin Abnormalities
Prolidase Deficiency

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Prolidase Deficiency

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Prolidase Deficiency