PD
MCID: PRL019

Prolidase Deficiency malady

Summaries for Prolidase Deficiency

Sources:
17Genetics Home Reference, 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 22MalaCards
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Genetics Home Reference: 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.17

MalaCards: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to thalassemia and wilson disease. An important gene associated with Prolidase Deficiency is PEPD (peptidase D). The drugs bromocriptine and pergolide and the compounds prednisolone and hematoxylin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and lung.

NIH Rare Diseases: Prolidase deficiency is a rare disorder that affects multiple systems due to a defect on an enzyme that is related to the production of collagen (a strong protein found in bones, tissues, and skin).30

Wikipedia: Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated...44 more...

OMIM: 170100

Aliases & Descriptions for Prolidase Deficiency

Sources:
7diseasecard, 30NIH Rare Diseases, 17Genetics Home Reference, 33OMIM, 43UMLS
See all sources
prolidase deficiency 7 30 17 33
hyperimidodipeptiduria 30 17 43
imidodipeptidase deficiency 30 17
peptidase deficiency 30 17
pd 30 17
deficiency of prolidase 43
parkinson disease 43
malnutrition 43

Related Diseases for Prolidase Deficiency

Sources:
13GeneCards, 14GeneDecks
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Diseases related to prolidase deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 646)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia30.4PEPD, SLC17A5
2wilson disease27.7ELN, SLC17A5
3keloids27.6PEPD, ELN
4vasculitis27.4ELN, PEPD
5thyroiditis27.1PEPD, SLC17A5, ELN
6cystic fibrosis26.9SLC17A5, PEPD, ELN
7fibrosis26.9ELN, SLC17A5, PEPD
8hypertension26.7ELN, SLC17A5, PEPD
9galactosemia26.2PEPD, ELN, SLC17A5
10parkinson's disease13.2
11splenomegaly12.7SLC17A5, PEPD
12stomach carcinoma12.6PEPD, SLC17A5
13fatty liver disease12.6PEPD, SLC17A5
14portal hypertension12.5ELN, SLC17A5
15schistosomiasis12.5SLC17A5, ELN
16periodontal disease12.4ELN, SLC17A5
17connective tissue disease12.4PEPD, ELN
18aortic aneurysm12.3SLC17A5, ELN
19mental retardation syndrome12.3PEPD, ELN
20vaginitis12.3PEPD, ELN
21skin disease12.2PEPD, ELN
22intellectual disability12.1ELN, PEPD
23mayer-rokitansky-kuster-hauser syndrome12.1ELN, PEPD
24leiomyoma12.0ELN, PEPD
25pre-eclampsia12.0ELN, SLC17A5
26eclampsia11.8SLC17A5, ELN
27gonococcal synovitis11.8PEPD, SLC17A5, ELN
28carcinoma9.1
29dementia8.9
30hepatitis8.9
31malaria8.5
32alzheimer's disease8.4
33anemia8.3
34lrrk2-related parkinson disease8.2
35pendred syndrome8.2
36glucosephosphate dehydrogenase deficiency8.0
37autosomal recessive juvenile parkinson disease7.9
38hemolytic anemia7.9
39hepatitis b7.8
40leukemia7.8
41htra2-related parkinson disease7.7
42pink1 type of young-onset parkinson disease7.7
43parkinson disease type 37.7
44hepatitis c7.6
45snca-related parkinson disease7.5
46essential tremor7.5
47neurodegeneration7.5
48neuronitis7.5
49parkin type of juvenile parkinson disease7.5
50park7-related parkinson disease7.5

Graphical network of the top 20 diseases related to prolidase deficiency:



Graphical network of diseases related to prolidase deficiency

Clinical Features for Prolidase Deficiency

Sources:
33OMIM
See all sources
Clinical features from OMIM: 170100

Drugs & Therapeutics for Prolidase Deficiency

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

Genetic Tests for Prolidase Deficiency

Anatomical Context for Prolidase Deficiency

Sources:
22MalaCards
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MalaCards organs/tissues related to prolidase deficiency:

22
Skin, Liver, Lung, Spleen, T cells

Phenotypes for genes affiliated with Prolidase Deficiency

Publications for genes affiliated with Prolidase Deficiency

Sources:
35PubMed
See all sources

Articles related to prolidase deficiency:

(show all 50)
idTitleAuthorsYearAffiliating Genes
1Prolidase deficiency: it looks like systemic lupus er ythematosus but it is not. (19937054)Klar A.... Falik-Zaccai T.C.2010PEPD
2Characterization of prolidase I and II purified from normal human erythrocytes: comparison with prolidase in erythrocytes from a pat ient with prolidase deficiency. (19263194)Uramatsu S.... Kodama H.2009PEPD
3Prolidase deficiency: the use of topical proline for treatment of leg ulcers. (18855790)Dunn R.... Dolianitis C.2008PEPD
4Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations. (18340504)Lupi A.... Forlino A.2008PEPD
5Different effects of sulfur amino acids on prolidase and prolinase activity in normal and prolidase-deficient human erythrocytes. (16899234)Uramatsu M.... Kodama H.2007PEPD
6Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. (17517257)Luder A.S.... Falik-Zaccai T.C.2007PEPD
7Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. (17570078)Di Rocco M.... Martini A.2007PEPD
8Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. (17142620)Lupi A.... Forlino A.2006PEPD
9A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. (16681595)Hershkovitz T.... Sprecher E.2006PEPD
10Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency (17166065)Ortega GarcA-a M.P.... GarcA-a Melgares M.L.2006PEPD
11A nonsense mutation of PEPD in four Amish children with prolidase deficiency. (16470701)Wang H.... Scofield R.H.2006PEPD, SLC17A5
12Ulcus cruris associated with prolidase deficiency. (17459310)Kavala M.... Sarigul S.2006PEPD
13Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patients. (15653144)Perugini P.... Conti B.2005PEPD
14Characterization of prolidase activity in erythrocytes from a patient with prolidase deficiency: comparison with prolidase I and II purified from normal human erythrocytes. (16009141)Liu G.... Kodama H.2005PEPD
15Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. (15552267)Wang W.... Kodama H.2004PEPD
16Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. (15309682)Lupi A.... Forlino A.2004PEPD
17Effects of amino acids and its metabolites on prolidase activity against various iminodipeptides in erythrocytes from normal human and a patient with prolidase deficiency. (15530480)Liu G.... Kodama H.2004PEPD
18Leg ulcers secondary to prolidase deficiency. (15632738)Trent J.T.... Kirsner R.S.2004PEPD
19Therapeutic apheresis exchange in two patients with prolidase deficiency. (12452876)Lupi A.... Iadarola P.2002PEPD
20Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. (12384772)Forlino A.... Cetta G.2002PEPD
21Prolidase deficiency with hyperimmunoglobulin E: a case report. (12000488)Lopes I.... Martins E.2002PEPD
22Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine. (11916317)Moolenaar S.H.... Wevers R.A.2001PEPD
23Hereditary prolidase deficiency. Contribution to differential therapy refractory leg ulcer diagnosis (11116849)Kasten R.... Voigtlander V.2000PEPD
24Transient beneficial effect of GH replacement therapy and topical GH application on skin ulcers in a boy with prolidase deficiency. (10886759)Monafo V.... Cetta G.2000PEPD
25Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis. (11113899)Mandel H.... Van Gennip A.H.2000PEPD
26A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency. (10721675)Kikuchi S.... Tsujimoto G.2000PEPD
27Corticosteroid treatment of prolidase deficiency skin lesions by inhibiting iminodipeptide-primed neutrophil superoxide generation. (10583165)Yasuda K.... Kodama H.1999PEPD
28The effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency. (9586797)Zhang J.... Kodama H.1998PEPD
29Prolidase deficiency associated with pathologic myopia. (9587929)Kiratli H.... Satilmis M.1998PEPD
30Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer. (12503186)Ikeda K.... Sakuragawa N.1997PEPD
31Prolidase deficiency and systemic lupus erythematosus. (9196362)Shrinath M.... Herrick A.L.1997PEPD
32Expression and molecular analysis of mutations in prolidase deficiency. (8900231)Ledoux P.... Hechtman P.1996PEPD
33Topical treatment of skin ulcers in prolidase deficiency. (8919529)Jemec G.B.... Moe A.T.1996PEPD
34Measurement of iminodipeptides in the serum of patients with prolidase deficiency using liquid chromatography-mass spectrometry. (8031960)Sugahara K.... Kodama H.1994PEPD
35Four novel PEPD alleles causing prolidase deficiency. (8198124)Ledoux P.... Hechtman P.1994PEPD
36Prolidase deficiency: biochemical study of erythrocyte and skin fibroblast prolidase activity in Italian patients. (15378943)Zanaboni G.... Cetta G.1994PEPD
37Prolidase deficiency: a multisystemic hereditary disorder. (8408817)Bissonnette R.... Dubuc R.1993PEPD
38The use of liquid chromatography-mass spectrometry for the identification and quantification of urinary iminodipeptides in prolidase deficiency. (8357941)Sugahara K.... Kodama H.1993PEPD
39Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency. (8258246)Cantatore F.P.... Carrozzo M.1993PEPD
40Chronic leg ulcer in children with prolidase deficiency (1301685)Andry P.... De Prost Y.1992PEPD
41Prolidase deficiency in cultured human fibroblasts: biochemical pathology and iminodipeptide-enhanced growth. (1437403)Dolenga M.... Hechtman P.1992PEPD
42Blood transfusions in the therapy of a case of prolidase deficiency. (1536787)Berardesca E.... Cetta G.1992PEPD
43Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide. (2010534)Tanoue A.... Matsuda I.1991PEPD
44Ultrastructural studies on dermis from prolidase deficient subjects. (1913589)Pasquali Ronchetti I.... Cetta G.1991ELN
45Characterization of prolidase I and II from erythrocytes of a control, a patient with prolidase deficiency and her mother. (2317925)Ohhashi T.... Kodama H.1990PEPD
46A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. (2365824)Tanoue A.... Matsuda I.1990PEPD
47Liquid chromatography-mass spectrometry for the qualitative analyses of iminodipeptides in the urine of patients with prolidase deficiency. (2387877)Kodama H.... Numajiri Y.1990PEPD
48Structural organization of the gene for human prolida se (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. (1972707)Tanoue A.... Matsuda I.1990PEPD
49Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. (1688567)Endo F.... Matsuda I.1990PEPD
50Prolidase deficiency: biochemical classification of alleles. (2705457)Boright A.P.... Choy F.1989PEPD

Expression for genes affiliated with Prolidase Deficiency

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Prolidase Deficiency

Pathways for genes affiliated with Prolidase Deficiency

Compounds for genes affiliated with Prolidase Deficiency

Sources:
32Novoseek , 9DrugBank, 18HMDB
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Compounds related to prolidase deficiency according to GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1prednisolone32 9 9 11.6PEPD, SLC17A5
2hematoxylin32 9.4ELN, SLC17A5
3betacarotene32 9.4SLC17A5, ELN
4procollagen32 9.4SLC17A5, ELN
5polyethylene glycol32 9.4ELN, SLC17A5
6dmso32 9.3SLC17A5, ELN
7nacl32 9.3ELN, SLC17A5
8vitamin a32 9 18 9 12.2SLC17A5, ELN
9valine32 9.2PEPD, ELN
10n acetylcysteine32 9.1ELN, SLC17A5
11fibrinogen32 9.1ELN, SLC17A5
12manganese32 18 10.1ELN, PEPD
13methionine32 9.0SLC17A5, PEPD
14ascorbic acid32 18 10.0SLC17A5, ELN
15hydroxyproline32 18 9.8ELN, PEPD, SLC17A5
16hyaluronic acid32 18 9.8ELN, SLC17A5, PEPD
17proline32 8.8PEPD, SLC17A5, ELN
18creatinine32 8.8PEPD, SLC17A5, ELN
19glutamate32 8.8ELN, SLC17A5, PEPD
20alanine32 8.8ELN, PEPD, SLC17A5

GO Terms for genes affiliated with Prolidase Deficiency

Sources for Prolidase Deficiency

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS