Prolidase Deficiency (PD)

External Ids:

Disease Ontology 12 DOID:0111540 OMIM® 57 170100 KEGG 36 H01119 MeSH 44 D056732 NCIt 50 C85029 SNOMED-CT 67 360994007 MESH via Orphanet 45 D056732

ICD10 via Orphanet 33 E72.8 UMLS via Orphanet 71 C0268532 C1534653 Orphanet 58 ORPHA742 MedGen 41 C0268532 SNOMED-CT via HPO 68 103276001 11934000 125279001 127388009 128601007 129646001 15188001 16294009 16386004 165397008 18265008 194021007 195967001 197853008 20255002 22006008 228156007 238810007 246635007 247441003 247564004 247578003 248200007 249310005 25694009 258211005 271737000 271811009 271813007 27272007 277797007 279333002 281104002 299330008 302215000 32003007 32958008 343087000 36440009 387712008 397540003 398206004 398302004 413839001 41497008 415116008 418290006 418363000 421689001 424492005 43116000 432788009 443871003 444827008 46742003 50091001 55464009 62250003 699014000 706885006 70819003 710234009 7973008 80515008 80967001 86735004 90128006 91138005 95828007 991000119106 more UMLS 70 C0268532

MedlinePlus Genetics : ⁴³ Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.Characteristic facial features in people with prolidase deficiency include prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia). Affected children may experience delayed development, and about 75 percent of people with prolidase deficiency have intellectual disability that may range from mild to severe.People with prolidase deficiency often develop skin lesions, especially on their hands, feet, lower legs, and face. The severity of the skin involvement, which usually begins during childhood, may range from a mild rash to severe skin ulcers. Skin ulcers, especially on the legs, may not heal completely, resulting in complications including infection and amputation.The severity of symptoms in prolidase deficiency varies greatly among affected individuals. Some people with this disorder do not have any symptoms. In these individuals the condition can be detected by laboratory tests such as newborn screening tests or tests offered to relatives of affected individuals.

MalaCards based summary : Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to autosomal recessive disease and paroxysmal extreme pain disorder, and has symptoms including petechiae of skin An important gene associated with Prolidase Deficiency is PEPD (Peptidase D), and among its related pathways/superpathways is Arginine and proline metabolism. Affiliated tissues include skin, spleen and liver, and related phenotypes are hearing impairment and depressed nasal bridge

Disease Ontology : ¹² An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has material basis in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11.

GARD : ²⁰ Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable intellectual disability, enlargement of the liver ( hepatomegaly ) with elevated liver enzymes, and enlargement of the spleen ( splenomegaly ). Symptoms typically present during infancy and vary greatly among affected individuals. The condition is caused by mutations in the PEPD gene. It is inherited in an autosomal recessive pattern. Treatment for prolidase deficiency is symptomatic and supportive and often requires the expertise of a multidisciplinary team.

OMIM® : ⁵⁷ Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectases with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008). (170100) (Updated 20-May-2021)

KEGG : ³⁶ Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen metabolism and in the terminal degradation of endogenous and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing the reduction or the loss of prolidase activity are responsible for PD.

UniProtKB/Swiss-Prot : ⁷² Prolidase deficiency: A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies.

Wikipedia : ⁷³ Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen... more...

GeneReviews: NBK299584

Clinical features from OMIM®:

170100 (Updated 20-May-2021)

Search NIH Clinical Center for Prolidase Deficiency

Search GEO for disease gene expression data for Prolidase Deficiency.