PD
MCID: PRL019
MIFTS: 38

Prolidase Deficiency (PD) malady

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

Aliases & Classifications for Prolidase Deficiency

Aliases & Descriptions for Prolidase Deficiency:

Name: Prolidase Deficiency 54 23 50 24 25 56 66 29 13 42
Hyperimidodipeptiduria 50 25 56
Pd 50 25 66
Imidodipeptidase Deficiency 50 25
Peptidase Deficiency 50 25
Deficiency of Prolidase 69

Characteristics:

Orphanet epidemiological data:

56
prolidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age;

HPO:

32
prolidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 170100
Orphanet 56 ORPHA742
UMLS via Orphanet 70 C1534653 C0268532
ICD10 via Orphanet 34 E72.8
MESH via Orphanet 43 D056732
MedGen 40 C0268532
MeSH 42 D056732

Summaries for Prolidase Deficiency

OMIM : 54 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 pruritus, dry skin and hypertelorism. An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, liver and spleen.

NIH Rare Diseases : 50 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 : 66 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.

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.

Wikipedia : 71 Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen... more...

GeneReviews: NBK299584

Related Diseases for Prolidase Deficiency

Diseases related to Prolidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
id Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 11.7
2 pendred syndrome 11.3
3 multiple system atrophy 11.0
4 personality disorder 11.0
5 corticobasal degeneration 11.0
6 spondylodysplastic ehlers-danlos syndrome 10.9
7 pigment dispersion syndrome 10.8
8 ehlers-danlos syndrome, progeroid type, 1 10.8
9 convulsions, familial infantile, with paroxysmal choreoathetosis 10.7
10 kufor-rakeb syndrome 10.7
11 parkinson disease 17 10.7
12 parkinson disease 19, juvenile-onset 10.7
13 parkinson disease 20, early-onset 10.7
14 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
15 parkinson disease 21 10.7
16 parkinson disease 18 10.7
17 dementia, lewy body 10.7
18 diphallia 10.7
19 epilepsy, pyridoxine-dependent 10.7
20 pancreas disease 10.0
21 endotheliitis 10.0
22 peritonitis 10.0
23 systemic lupus erythematosus 9.9
24 lupus erythematosus 9.9
25 cervicitis 9.8
26 neuronitis 9.8
27 rem sleep behavior disorder 9.8
28 tremor 9.8
29 thyroiditis 9.8
30 panic disorder 9.8
31 essential tremor 9.7
32 dementia 9.7
33 endometrial cancer 9.6
34 tuberculosis 9.6
35 breast cancer 9.6
36 cystic fibrosis 9.6
37 lung disease 9.6
38 vasculitis 9.6
39 arthritis 9.6
40 hematopoietic stem cell transplantation 9.6
41 inflammatory bowel disease 9.6
42 microcytic anemia 9.6
43 myopia 9.6
44 hyper ige syndrome 9.6
45 splenomegaly 9.6
46 squamous cell carcinoma 9.6

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



Diseases related to Prolidase Deficiency

Symptoms & Phenotypes for Prolidase Deficiency

Symptoms by clinical synopsis from OMIM:

170100

Clinical features from OMIM:

170100

Human phenotypes related to Prolidase Deficiency:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 dry skin 56 32 Very frequent (99-80%) HP:0000958
3 hypertelorism 56 32 Frequent (79-30%) HP:0000316
4 genu valgum 56 32 Frequent (79-30%) HP:0002857
5 intellectual disability 56 32 Occasional (29-5%) HP:0001249
6 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
7 splenomegaly 56 32 Occasional (29-5%) HP:0001744
8 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
9 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
10 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
11 carious teeth 56 32 Very frequent (99-80%) HP:0000670
12 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
13 visual impairment 56 32 Frequent (79-30%) HP:0000505
14 abnormality of retinal pigmentation 56 32 Frequent (79-30%) HP:0007703
15 micrognathia 56 32 Frequent (79-30%) HP:0000347
16 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
17 thin skin 56 32 Very frequent (99-80%) HP:0000963
18 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
19 abnormality of the hip bone 56 32 Very frequent (99-80%) HP:0003272
20 reduced bone mineral density 56 32 Occasional (29-5%) HP:0004349
21 abnormality of the fingernails 56 32 Frequent (79-30%) HP:0001231
22 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
23 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
24 arachnodactyly 56 32 Frequent (79-30%) HP:0001166
25 bilateral single transverse palmar creases 56 32 Frequent (79-30%) HP:0007598
26 erythema 56 32 Very frequent (99-80%) HP:0010783
27 low anterior hairline 56 32 Frequent (79-30%) HP:0000294
28 proptosis 56 32 Occasional (29-5%) HP:0000520
29 cutaneous photosensitivity 56 32 Very frequent (99-80%) HP:0000992
30 papule 56 32 Very frequent (99-80%) HP:0200034
31 white forelock 56 32 Frequent (79-30%) HP:0002211
32 abnormality of the middle ear 56 32 Very frequent (99-80%) HP:0000370
33 crusting erythematous dermatitis 56 32 Very frequent (99-80%) HP:0007473
34 recurrent cystitis 56 32 Occasional (29-5%) HP:0012786
35 ptosis 32 HP:0000508
36 global developmental delay 32 HP:0001263
37 short nose 32 HP:0003196
38 prominent forehead 32 HP:0011220
39 abnormality of metabolism/homeostasis 32 HP:0001939
40 anemia 32 HP:0001903
41 hyperkeratosis 56 Very frequent (99-80%)
42 low posterior hairline 32 HP:0002162
43 thrombocytopenia 32 HP:0001873
44 abnormality of the immune system 56 Very frequent (99-80%)
45 aplasia/hypoplasia of the skin 56 Very frequent (99-80%)
46 asthma 32 HP:0002099
47 recurrent pneumonia 32 HP:0006532
48 petechiae 32 HP:0000967
49 cheekbone underdevelopment 56 Occasional (29-5%)
50 convex nasal ridge 32 HP:0000444

Drugs & Therapeutics for Prolidase Deficiency

Search Clinical Trials , NIH Clinical Center for Prolidase Deficiency

Cochrane evidence based reviews: prolidase deficiency

Genetic Tests for Prolidase Deficiency

Genetic tests related to Prolidase Deficiency:

id Genetic test Affiliating Genes
1 Prolidase Deficiency 29 24 PEPD

Anatomical Context for Prolidase Deficiency

MalaCards organs/tissues related to Prolidase Deficiency:

39
Skin, Liver, Spleen, Lung, Bone, Neutrophil

Publications for Prolidase Deficiency

Articles related to Prolidase Deficiency:

(show top 50) (show all 125)
id Title Authors Year
1
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. ( 28062424 )
2017
2
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. ( 27385964 )
2016
3
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency. ( 26637345 )
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
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. ( 25603535 )
2015
7
A case of prolidase deficiency accompanying leg ulcers. ( 25691319 )
2015
8
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION. ( 26349190 )
2015
9
Prolidase deficiency: dento-facial aspects in a paediatric patient. ( 25101509 )
2014
10
Prolidase deficiency: dento-facial aspects in a paediatric patient. ( 25299025 )
2014
11
Massive Splenomegaly Secondary to Prolidase Deficiency. ( 23811574 )
2013
12
Prolidase deficiency breaks tolerance to lupus-associated antigens. ( 24330273 )
2013
13
Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations. ( 23430876 )
2012
14
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. ( 22726576 )
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
Prolidase deficiency: a rare aetiology of arthritis. ( 20031465 )
2010
19
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. ( 19937054 )
2010
20
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. ( 19308961 )
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
Prolidase deficiency: the use of topical proline for treatment of leg ulcers. ( 18855790 )
2008
23
Nasal reconstruction in a patient with prolidase deficiency syndrome. ( 18639509 )
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
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. ( 17570078 )
2007
26
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. ( 17517257 )
2007
27
Different effects of sulfur amino acids on prolidase and prolinase activity in normal and prolidase-deficient human erythrocytes. ( 16899234 )
2007
28
[Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. ( 17166065 )
2006
29
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
30
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. ( 16681595 )
2006
31
Ulcus cruris associated with prolidase deficiency. ( 17459310 )
2006
32
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. ( 16434239 )
2006
33
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia. ( 16863530 )
2006
34
Prolidase deficiency and the biochemical assays used in its diagnosis. ( 16298326 )
2006
35
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. ( 16470701 )
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
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
39
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. ( 15552267 )
2004
40
Leg ulcers secondary to prolidase deficiency. ( 15632738 )
2004
41
Prolidase deficiency: case reports of two Argentinian brothers. ( 15357754 )
2004
42
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
43
Characteristics of prolidase from the erythrocytes of normal humans and patients with prolidase deficiency and their mother. ( 14580160 )
2003
44
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
45
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
46
Prolidase deficiency with hyperimmunoglobulin E: a case report. ( 12000488 )
2002
47
Therapeutic apheresis exchange in two patients with prolidase deficiency. ( 12452876 )
2002
48
Prolidase deficiency. ( 11895514 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 PEPD p.Asp276Asn VAR_004404 rs121917721
2 PEPD p.Gly448Arg VAR_004405 rs121917724
3 PEPD p.Arg184Gln VAR_011614 rs121917722
4 PEPD p.Gly278Asp VAR_011615 rs121917723

ClinVar genetic disease variations for Prolidase Deficiency:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 PEPD NM_000285.3(PEPD): c.826G> A (p.Asp276Asn) single nucleotide variant Pathogenic rs121917721 GRCh37 Chromosome 19, 33892768: 33892768
2 PEPD NM_000285.3(PEPD): c.1153_1344del192 (p.Gly385_Gly448del) deletion Pathogenic GRCh38 Chromosome 19, 33387843: 33388624
3 PEPD NM_000285.3(PEPD): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs121917722 GRCh37 Chromosome 19, 33954966: 33954966
4 PEPD NM_000285.3(PEPD): c.833G> A (p.Gly278Asp) single nucleotide variant Pathogenic rs121917723 GRCh37 Chromosome 19, 33892761: 33892761
5 PEPD NM_000285.3(PEPD): c.1342G> A (p.Gly448Arg) single nucleotide variant Pathogenic rs121917724 GRCh37 Chromosome 19, 33878798: 33878798
6 PEPD NM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del) deletion Pathogenic rs757386104 GRCh38 Chromosome 19, 33387465: 33387467
7 PEPD NM_000285.3(PEPD): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917725 GRCh37 Chromosome 19, 33902603: 33902603
8 PEPD NM_000285.3(PEPD): c.1234G> A (p.Glu412Lys) single nucleotide variant Pathogenic rs267606944 GRCh37 Chromosome 19, 33878906: 33878906
9 PEPD NM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs) duplication Pathogenic rs794728008 GRCh38 Chromosome 19, 33463988: 33464000
10 PEPD NM_000285.3(PEPD): c.605C> T (p.Ser202Phe) single nucleotide variant Pathogenic rs267606943 GRCh37 Chromosome 19, 33954912: 33954912
11 PEPD NM_000285.3(PEPD): c.1103T> G (p.Leu368Arg) single nucleotide variant Pathogenic rs797045185 GRCh38 Chromosome 19, 33391344: 33391344
12 PEPD NM_000285.3(PEPD): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs747700126 GRCh38 Chromosome 19, 33463032: 33463032

Expression for Prolidase Deficiency

Search GEO for disease gene expression data for Prolidase Deficiency.

Pathways for Prolidase Deficiency

GO Terms for Prolidase Deficiency

Sources for Prolidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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