Prolidase Deficiency (PD)

External Ids:

OMIM 58 170100 KEGG 38 H01119 MeSH 45 D056732 MESH via Orphanet 46 D056732 ICD10 via Orphanet 35 E72.8

UMLS via Orphanet 75 C0268532 C1534653 Orphanet 60 ORPHA742 MedGen 43 C0268532 SNOMED-CT via HPO 70 103276001 11934000 125279001 128601007 15188001 16294009 16386004 165397008 18265008 194021007 195967001 197853008 20255002 22006008 224958001 228156007 238810007 246635007 247441003 247564004 247578003 248200007 249310005 25694009 258211005 271737000 271811009 271813007 277797007 279333002 299330008 302215000 3110003 32003007 32958008 343087000 387712008 397540003 398206004 398302004 413839001 415116008 418290006 418363000 421689001 424492005 443871003 444827008 46742003 50091001 55464009 62250003 699014000 706885006 70819003 7973008 80515008 80967001 86735004 90128006 91138005 95828007 991000119106 more UMLS 74 C0268532

OMIM : ⁵⁸ 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)

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, spleen and liver, and related phenotypes are hearing impairment and recurrent respiratory infections

Genetics Home Reference : ²⁶ 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 : ⁵⁴ 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 : ⁷⁶ 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 : ⁷⁷ 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.