DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Skin Abnormalities [C16.131.831] Skin Abnormalities Acrodermatitis [C16.131.831.066] Acrodermatitis Carney Complex [C16.131.831.108] Carney Complex Dyskeratosis Congenita [C16.131.831.150] Dyskeratosis Congenita Ectodermal Dysplasia [C16.131.831.350] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C16.131.831.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.131.831.493] Epidermolysis Bullosa Ichthyosis [C16.131.831.512] Ichthyosis Incontinentia Pigmenti [C16.131.831.580] Incontinentia Pigmenti Port-Wine Stain [C16.131.831.675] Port-Wine Stain Prolidase Deficiency [C16.131.831.720] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.131.831.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.131.831.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C16.131.831.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C16.131.831.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.131.831.936] Xeroderma Pigmentosum DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Albinism [C16.320.565.100.102] Albinism Alkaptonuria [C16.320.565.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C16.320.565.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C16.320.565.100.480] Hyperhomocysteinemia Hyperlysinemias [C16.320.565.100.544] Hyperlysinemias Maple Syrup Urine Disease [C16.320.565.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C16.320.565.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C16.320.565.100.766] Phenylketonurias Prolidase Deficiency [C16.320.565.100.794] Prolidase Deficiency Propionic Acidemia [C16.320.565.100.823] Propionic Acidemia Tyrosinemias [C16.320.565.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C16.320.565.100.940] Urea Cycle Disorders, Inborn DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Albinism [C16.320.850.080] Albinism Cutis Laxa [C16.320.850.180] Cutis Laxa Darier Disease [C16.320.850.190] Darier Disease Dermatitis, Atopic [C16.320.850.210] Dermatitis, Atopic Dyskeratosis Congenita [C16.320.850.235] Dyskeratosis Congenita Ectodermal Dysplasia [C16.320.850.250] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C16.320.850.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.320.850.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C16.320.850.337] Erythrokeratodermia Variabilis Hyalinosis, Systemic [C16.320.850.368] Hyalinosis, Systemic Ichthyosiform Erythroderma, Congenital [C16.320.850.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C16.320.850.402] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C16.320.850.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C16.320.850.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C16.320.850.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C16.320.850.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C16.320.850.542] Leukokeratosis, Hereditary Mucosal Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595] Lipoid Proteinosis of Urbach and Wiethe Monilethrix [C16.320.850.647] Monilethrix Netherton Syndrome [C16.320.850.673] Netherton Syndrome Pemphigus, Benign Familial [C16.320.850.700] Pemphigus, Benign Familial Porokeratosis [C16.320.850.730] Porokeratosis Porphyria, Erythropoietic [C16.320.850.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C16.320.850.742] Porphyrias, Hepatic Prolidase Deficiency [C16.320.850.746] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.320.850.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.320.850.765] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C16.320.850.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C16.320.850.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.320.850.970] Xeroderma Pigmentosum

Prolidase Deficiency - Preferred

Concept UI	M0528902
Scope note	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.
Preferred term	Prolidase Deficiency
Entry term(s)	Deficiencies, Imidodipeptidase Deficiencies, Prolidase Deficiency, Imidodipeptidase Deficiency, Prolidase Hyperimidodipeptiduria Hyperimidodipeptidurias Imidodipeptidase Deficiencies Imidodipeptidase Deficiency Prolidase Deficiencies