MCID: PRL019
MIFTS: 38

Prolidase Deficiency malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Prolidase Deficiency

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Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Prolidase Deficiency:

Name: Prolidase Deficiency 52 23 48 24 25 54 70 27 12 39
Hyperimidodipeptiduria 48 25 54
Pd 48 25 70
 
Imidodipeptidase Deficiency 48 25
Peptidase Deficiency 48 25
Deficiency of Prolidase 68

Characteristics:

Orphanet epidemiological data:

54
prolidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age

HPO:

64
prolidase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 170100
Orphanet54 ORPHA742
UMLS via Orphanet69 C1534653, C0268532
ICD10 via Orphanet31 E72.8
MESH via Orphanet40 D056732
MedGen37 C0268532
MeSH39 D056732

Summaries for Prolidase Deficiency

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OMIM:52 Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and... (170100) more...

MalaCards based summary: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to parkinson disease, late-onset and pendred syndrome, and has symptoms including hearing impairment, abnormality of the middle ear and carious teeth. An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, liver and spleen.

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:48 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. Last updated: 3/25/2016

UniProtKB/Swiss-Prot:70 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:71 Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen... more...

GeneReviews for NBK299584

Related Diseases for Prolidase Deficiency

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Graphical network of the top 20 diseases related to Prolidase Deficiency:



Diseases related to prolidase deficiency

Symptoms & Phenotypes for Prolidase Deficiency

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Symptoms by clinical synopsis from OMIM:

170100

Clinical features from OMIM:

170100

Human phenotypes related to Prolidase Deficiency:

 64 54 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
2 abnormality of the middle ear64 54 hallmark (90%) Very frequent (99-80%) HP:0000370
3 carious teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0000670
4 dry skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000958
5 thin skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000963
6 palmoplantar keratoderma64 54 hallmark (90%) Very frequent (99-80%) HP:0000982
7 pruritus64 54 hallmark (90%) Very frequent (99-80%) HP:0000989
8 cutaneous photosensitivity64 54 hallmark (90%) Very frequent (99-80%) HP:0000992
9 abnormal facial shape64 54 hallmark (90%) Very frequent (99-80%) HP:0001999
10 recurrent respiratory infections64 54 hallmark (90%) Very frequent (99-80%) HP:0002205
11 abnormality of the hip bone64 54 hallmark (90%) Very frequent (99-80%) HP:0003272
12 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
13 hypoplasia of the zygomatic bone64 hallmark (90%) HP:0010669
14 skin ulcer64 54 hallmark (90%) Very frequent (99-80%) HP:0200042
15 low anterior hairline64 54 typical (50%) Frequent (79-30%) HP:0000294
16 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
17 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
18 depressed nasal ridge64 54 typical (50%) Frequent (79-30%) HP:0000457
19 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
20 single transverse palmar crease64 typical (50%) HP:0000954
21 hypertrichosis64 typical (50%) HP:0000998
22 arachnodactyly64 54 typical (50%) Frequent (79-30%) HP:0001166
23 abnormality of the fingernails64 54 typical (50%) Frequent (79-30%) HP:0001231
24 white forelock64 54 typical (50%) Frequent (79-30%) HP:0002211
25 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
26 abnormality of retinal pigmentation64 54 typical (50%) Frequent (79-30%) HP:0007703
27 malar flattening64 occasional (7.5%) HP:0000272
28 proptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000520
29 splenomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0001744
30 hepatomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002240
31 reduced bone mineral density64 54 occasional (7.5%) Occasional (29-5%) HP:0004349
32 cognitive impairment64 occasional (7.5%) HP:0100543
33 urinary bladder inflammation64 occasional (7.5%) HP:0100577
34 convex nasal ridge64 HP:0000444
35 ptosis64 HP:0000508
36 petechiae64 HP:0000967
37 global developmental delay64 HP:0001263
38 thrombocytopenia64 HP:0001873
39 anemia64 HP:0001903
40 abnormality of metabolism/homeostasis64 HP:0001939
41 asthma64 HP:0002099
42 low posterior hairline64 HP:0002162
43 systemic lupus erythematosus64 HP:0002725
44 short nose64 HP:0003196
45 chronic lung disease64 HP:0006528
46 recurrent pneumonia64 HP:0006532
47 prolonged neonatal jaundice64 HP:0006579
48 crusting erythematous dermatitis64 54 Very frequent (99-80%) HP:0007473
49 diffuse telangiectasia64 HP:0007489
50 prominent forehead64 HP:0011220
51 hyperkeratosis54 Very frequent (99-80%)
52 hirsutism54 Frequent (79-30%)
53 intellectual disability54 Occasional (29-5%)
54 generalized hirsutism54 Frequent (79-30%)
55 abnormality of the immune system54 Very frequent (99-80%)
56 bilateral single transverse palmar creases54 Frequent (79-30%)
57 aplasia/hypoplasia of the skin54 Very frequent (99-80%)
58 cheekbone underdevelopment54 Occasional (29-5%)
59 erythema54 Very frequent (99-80%)
60 recurrent cystitis54 Occasional (29-5%)
61 papule54 Very frequent (99-80%)

UMLS symptoms related to Prolidase Deficiency:


hepatomegaly

Drugs & Therapeutics for Prolidase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Prolidase Deficiency


Cochrane evidence based reviews: prolidase deficiency

Genetic Tests for Prolidase Deficiency

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Genetic tests related to Prolidase Deficiency:

id Genetic test Affiliating Genes
1 Prolidase Deficiency27 24 PEPD

Anatomical Context for Prolidase Deficiency

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MalaCards organs/tissues related to Prolidase Deficiency:

36
Skin, Liver, Spleen, Lung, Bone, Neutrophil

Publications for Prolidase Deficiency

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Articles related to Prolidase Deficiency:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. (28062424)
2017
2
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency. (26637345)
2016
3
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. (27385964)
2016
4
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency. (27067078)
2016
5
Pulmonary manifestations of prolidase deficiency. (27132891)
2016
6
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION. (26349190)
2015
7
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. (25603535)
2015
8
A case of prolidase deficiency accompanying leg ulcers. (25691319)
2015
9
Prolidase deficiency: dento-facial aspects in a paediatric patient. (25299025)
2014
10
Prolidase deficiency: dento-facial aspects in a paediatric patient. (25101509)
2014
11
Massive Splenomegaly Secondary to Prolidase Deficiency. (23811574)
2013
12
Prolidase deficiency breaks tolerance to lupus-associated antigens. (24330273)
2013
13
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. (22726576)
2012
14
Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations. (23430876)
2012
15
A photographic essay of prolidase deficiency. (21760498)
2011
16
Developmental cardiac hypertrophy in a mouse model of prolidase deficiency. (21472842)
2011
17
Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis. (21699887)
2011
18
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. (19308961)
2010
19
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. (19937054)
2010
20
Prolidase deficiency: a rare aetiology of arthritis. (20031465)
2010
21
Characterization of prolidase I and II purified from normal human erythrocytes: comparison with prolidase in erythrocytes from a patient with prolidase deficiency. (19263194)
2009
22
Nasal reconstruction in a patient with prolidase deficiency syndrome. (18639509)
2008
23
Prolidase deficiency: the use of topical proline for treatment of leg ulcers. (18855790)
2008
24
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations. (18340504)
2008
25
Different effects of sulfur amino acids on prolidase and prolinase activity in normal and prolidase-deficient human erythrocytes. (16899234)
2007
26
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. (17517257)
2007
27
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. (17570078)
2007
28
Molecular 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)
2006
29
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. (16434239)
2006
30
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. (16681595)
2006
31
Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. (17166065)
2006
32
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia. (16863530)
2006
33
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. (16470701)
2006
34
Ulcus cruris associated with prolidase deficiency. (17459310)
2006
35
Prolidase deficiency and the biochemical assays used in its diagnosis. (16298326)
2006
36
Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patients. (15653144)
2005
37
Characterization of prolidase activity in erythrocytes from a patient with prolidase deficiency: comparison with prolidase I and II purified from normal human erythrocytes. (16009141)
2005
38
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. (15552267)
2004
39
Prolidase deficiency: case reports of two Argentinian brothers. (15357754)
2004
40
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. (15309682)
2004
41
Effects of amino acids and its metabolites on prolidase activity against various iminodipeptides in erythrocytes from normal human and a patient with prolidase deficiency. (15530480)
2004
42
Leg ulcers secondary to prolidase deficiency. (15632738)
2004
43
Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts. (12957177)
2003
44
Characteristics of prolidase from the erythrocytes of normal humans and patients with prolidase deficiency and their mother. (14580160)
2003
45
Therapeutic apheresis exchange in two patients with prolidase deficiency. (12452876)
2002
46
Prolidase deficiency. (11895514)
2002
47
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. (12384772)
2002
48
Prolidase deficiency with hyperimmunoglobulin E: a case report. (12000488)
2002
49
Mild, late-onset prolidase deficiency: another Italian case. (11260036)
2001
50
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine. (11916317)
2001

Variations for Prolidase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Prolidase Deficiency:

70
id Symbol AA change Variation ID SNP ID
1PEPDp.Asp276AsnVAR_004404rs121917721
2PEPDp.Gly448ArgVAR_004405rs121917724
3PEPDp.Arg184GlnVAR_011614rs121917722
4PEPDp.Gly278AspVAR_011615rs121917723

Clinvar genetic disease variations for Prolidase Deficiency:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1PEPDNM_000285.3(PEPD): c.826G> A (p.Asp276Asn)SNVPathogenicrs121917721GRCh37Chr 19, 33892768: 33892768
2PEPDNM_000285.3(PEPD): c.1153_1344del192 (p.Gly385_Gly448del)deletionPathogenicGRCh38Chr 19, 33387843: 33388624
3PEPDNM_000285.3(PEPD): c.634G> C (p.Ala212Pro)SNVPathogenicrs747700126GRCh38Chr 19, 33463032: 33463032
4PEPDNM_000285.3(PEPD): c.1103T> G (p.Leu368Arg)SNVPathogenicrs797045185GRCh38Chr 19, 33391344: 33391344
5PEPDNM_000285.3(PEPD): c.551G> A (p.Arg184Gln)SNVPathogenicrs121917722GRCh37Chr 19, 33954966: 33954966
6PEPDNM_000285.3(PEPD): c.833G> A (p.Gly278Asp)SNVPathogenicrs121917723GRCh37Chr 19, 33892761: 33892761
7PEPDNM_000285.3(PEPD): c.1342G> A (p.Gly448Arg)SNVPathogenicrs121917724GRCh37Chr 19, 33878798: 33878798
8PEPDNM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del)deletionPathogenicrs757386104GRCh38Chr 19, 33387465: 33387467
9PEPDNM_000285.3(PEPD): c.793C> T (p.Arg265Ter)SNVPathogenicrs121917725GRCh37Chr 19, 33902603: 33902603
10PEPDNM_000285.3(PEPD): c.1234G> A (p.Glu412Lys)SNVPathogenicrs267606944GRCh37Chr 19, 33878906: 33878906
11PEPDNM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs)duplicationPathogenicrs794728008GRCh38Chr 19, 33463988: 33464000
12PEPDNM_000285.3(PEPD): c.605C> T (p.Ser202Phe)SNVPathogenicrs267606943GRCh37Chr 19, 33954912: 33954912
13PEPDNM_000285.3(PEPD): c.692_694delACT (p.Tyr231del)deletionPathogenicrs745834191GRCh38Chr 19, 33413621: 33413623

Expression for genes affiliated with Prolidase Deficiency

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Search GEO for disease gene expression data for Prolidase Deficiency.

Pathways for genes affiliated with Prolidase Deficiency

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GO Terms for genes affiliated with Prolidase Deficiency

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Sources for Prolidase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet