Prolidase Deficiency (PD)

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OMIM 57 170100 Orphanet 59 ORPHA742 UMLS via Orphanet 74 C1534653 C0268532 ICD10 via Orphanet 34 E72.8 MESH via Orphanet 45 D056732

MedGen 42 C0268532 MeSH 44 D056732 KEGG 37 H01119 SNOMED-CT via HPO 69 258211005 194021007 22006008 32958008 103276001 15188001 343087000 95828007 3110003 246635007 397540003 7973008 11934000 18265008 80967001 16386004 277797007 271813007 50091001 706885006 279333002 418290006 418363000 424492005 90128006 62250003 228156007 247578003 91138005 224958001 16294009 302215000 415116008 165397008 271737000 248200007 32003007 398206004 398302004 195967001 991000119106 247564004 80515008 55464009 299330008 249310005 413839001 128601007 699014000 387712008 125279001 421689001 20255002 238810007 247441003 271811009 444827008 70819003 86735004 197853008 25694009 443871003 46742003 more UMLS 73 C0268532

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, telangiectasias 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)

MalaCards based summary : Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to parkinson disease, late-onset and glaucoma-related pigment dispersion syndrome, and has symptoms including petechiae of skin An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, liver and spleen, and related phenotypes are hypertelorism and genu valgum

Genetics Home Reference : ²⁵ 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.

NIH Rare Diseases : ⁵³ 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.

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen... more...

GeneReviews: NBK299584

Clinical features from OMIM:

170100

Search NIH Clinical Center for Prolidase Deficiency

Search GEO for disease gene expression data for Prolidase Deficiency.