MCID: PRL019
MIFTS: 39

Prolidase Deficiency malady

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

Aliases & Classifications for Prolidase Deficiency

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Sources:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Prolidase Deficiency:

Name: Prolidase Deficiency 50 22 46 23 24 52 68 25 12 37
Hyperimidodipeptiduria 46 24 52
Pd 46 24 68
 
Imidodipeptidase Deficiency 46 24
Peptidase Deficiency 46 24
Deficiency of Prolidase 66

Characteristics:

Orphanet epidemiological data:

52
prolidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age

HPO:

62
prolidase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 170100
Orphanet52 ORPHA742
ICD10 via Orphanet29 E72.8
MESH via Orphanet38 D056732
UMLS via Orphanet67 C0268532, C1534653
MedGen35 C0268532
MeSH37 D056732

Summaries for Prolidase Deficiency

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OMIM:50 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:24 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:46 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:68 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:69 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...

GeneReviews summary 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 for Prolidase Deficiency

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Symptoms by clinical synopsis from OMIM:

170100

Clinical features from OMIM:

170100

Symptoms:

 52 (show all 39)
  • low anterior hairline
  • hypertelorism
  • micrognathia
  • hearing impairment
  • abnormality of the middle ear
  • depressed nasal ridge
  • visual impairment
  • proptosis
  • carious teeth
  • dry skin
  • hyperkeratosis
  • thin skin
  • palmoplantar keratoderma
  • pruritus
  • cutaneous photosensitivity
  • hirsutism
  • arachnodactyly
  • abnormality of the fingernails
  • intellectual disability
  • splenomegaly
  • abnormal facial shape
  • recurrent respiratory infections
  • white forelock
  • generalized hirsutism
  • hepatomegaly
  • abnormality of the immune system
  • genu valgum
  • abnormality of the hip bone
  • reduced bone mineral density
  • depressed nasal bridge
  • crusting erythematous dermatitis
  • bilateral single transverse palmar creases
  • abnormal retinal pigmentation
  • aplasia/hypoplasia of the skin
  • cheekbone underdevelopment
  • erythema
  • recurrent cystitis
  • papule
  • skin ulcer

HPO human phenotypes related to Prolidase Deficiency:

(show all 56)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 abnormality of the middle ear hallmark (90%) HP:0000370
3 carious teeth hallmark (90%) HP:0000670
4 dry skin hallmark (90%) HP:0000958
5 thin skin hallmark (90%) HP:0000963
6 palmoplantar keratoderma hallmark (90%) HP:0000982
7 pruritus hallmark (90%) HP:0000989
8 cutaneous photosensitivity hallmark (90%) HP:0000992
9 abnormal facial shape hallmark (90%) HP:0001999
10 recurrent respiratory infections hallmark (90%) HP:0002205
11 abnormality of the hip bone hallmark (90%) HP:0003272
12 depressed nasal bridge hallmark (90%) HP:0005280
13 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
14 skin ulcer hallmark (90%) HP:0200042
15 low anterior hairline typical (50%) HP:0000294
16 hypertelorism typical (50%) HP:0000316
17 micrognathia typical (50%) HP:0000347
18 depressed nasal ridge typical (50%) HP:0000457
19 visual impairment typical (50%) HP:0000505
20 single transverse palmar crease typical (50%) HP:0000954
21 hypertrichosis typical (50%) HP:0000998
22 arachnodactyly typical (50%) HP:0001166
23 abnormality of the fingernails typical (50%) HP:0001231
24 white forelock typical (50%) HP:0002211
25 genu valgum typical (50%) HP:0002857
26 abnormality of retinal pigmentation typical (50%) HP:0007703
27 malar flattening occasional (7.5%) HP:0000272
28 proptosis occasional (7.5%) HP:0000520
29 splenomegaly occasional (7.5%) HP:0001744
30 hepatomegaly occasional (7.5%) HP:0002240
31 reduced bone mineral density occasional (7.5%) HP:0004349
32 cognitive impairment occasional (7.5%) HP:0100543
33 urinary bladder inflammation occasional (7.5%) HP:0100577
34 hypertelorism HP:0000316
35 convex nasal ridge HP:0000444
36 ptosis HP:0000508
37 proptosis HP:0000520
38 petechiae HP:0000967
39 global developmental delay HP:0001263
40 splenomegaly HP:0001744
41 thrombocytopenia HP:0001873
42 anemia HP:0001903
43 abnormality of metabolism/homeostasis HP:0001939
44 abnormal facial shape HP:0001999
45 asthma HP:0002099
46 low posterior hairline HP:0002162
47 hepatomegaly HP:0002240
48 systemic lupus erythematosus HP:0002725
49 short nose HP:0003196
50 depressed nasal bridge HP:0005280
51 chronic lung disease HP:0006528
52 recurrent pneumonia HP:0006532
53 prolonged neonatal jaundice HP:0006579
54 crusting erythematous dermatitis HP:0007473
55 diffuse telangiectasia HP:0007489
56 prominent forehead HP:0011220

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 Deficiency25 23 PEPD

Anatomical Context for Prolidase Deficiency

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MalaCards organs/tissues related to Prolidase Deficiency:

34
Skin, Liver, Spleen, Bone, Lung, Neutrophil

Animal Models for Prolidase Deficiency or affiliated genes

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Publications for Prolidase Deficiency

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Articles related to Prolidase Deficiency:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency. (26637345)
2016
2
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. (27385964)
2016
3
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency. (27067078)
2016
4
Pulmonary manifestations of prolidase deficiency. (27132891)
2016
5
Massive Splenomegaly Secondary to Prolidase Deficiency. (23811574)
2013
6
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. (22726576)
2012
7
A photographic essay of prolidase deficiency. (21760498)
2011
8
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. (19308961)
2010
9
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. (19937054)
2010
10
Characterization of prolidase I and II purified from normal human erythrocytes: comparison with prolidase in erythrocytes from a patient with prolidase deficiency. (19263194)
2009
11
Nasal reconstruction in a patient with prolidase deficiency syndrome. (18639509)
2008
12
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
13
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. (16434239)
2006
14
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. (16681595)
2006
15
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. (15552267)
2004
16
Prolidase deficiency: case reports of two Argentinian brothers. (15357754)
2004
17
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
18
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
19
Therapeutic apheresis exchange in two patients with prolidase deficiency. (12452876)
2002
20
Prolidase deficiency. (11895514)
2002
21
Hereditary prolidase deficiency. Contribution to differential therapy refractory leg ulcer diagnosis]. (11116849)
2000
22
Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer. (12503186)
1997
23
Expression and molecular analysis of mutations in prolidase deficiency. (8900231)
1996
24
Measurement of iminodipeptides in the serum of patients with prolidase deficiency using liquid chromatography-mass spectrometry. (8031960)
1994
25
Immune function in prolidase deficiency. (7807949)
1994
26
Prolidase deficiency: a multisystemic hereditary disorder. (8408817)
1993
27
Prolidase Deficiency (26110198)
1993
28
The use of liquid chromatography-mass spectrometry for the identification and quantification of urinary iminodipeptides in prolidase deficiency. (8357941)
1993
29
Chronic leg ulcer in children with prolidase deficiency]. (1301685)
1992
30
Prolidase deficiency in cultured human fibroblasts: biochemical pathology and iminodipeptide-enhanced growth. (1437403)
1992
31
Blood transfusions in the therapy of a case of prolidase deficiency. (1536787)
1992
32
Molecular 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)
1991
33
Characterization of prolidase I and II from erythrocytes of a control, a patient with prolidase deficiency and her mother. (2317925)
1990
34
A 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)
1990
35
Liquid chromatography-mass spectrometry for the qualitative analyses of iminodipeptides in the urine of patients with prolidase deficiency. (2387877)
1990
36
Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. (1972707)
1990
37
Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency. (2515389)
1989
38
Biochemical studies on prolidase in sera from control, patients with prolidase deficiency and their mother. (3139929)
1988
39
In situ activation of human erythrocyte prolidase: potential for enzyme replacement therapy in prolidase deficiency. (3205627)
1988
40
Immunochemical analysis of prolidase deficiency and molecular cloning of cDNA for prolidase of human liver. (3123797)
1987
41
Effect of topical application of glycine and proline on recalcitrant leg ulcers of prolidase deficiency. (3717972)
1986
42
Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency. (3939542)
1985
43
Clinical and biochemical characteristics of prolidase deficiency in siblings. (6507502)
1984
44
Prolidase and prolidase deficiency. (6727550)
1984
45
Congenital expression of prolidase defect in prolidase deficiency. (6728559)
1984
46
Prolidase deficiency. (6637477)
1983
47
In-vitro responses to ascorbate and manganese in fibroblasts from a patient with prolidase deficiency and iminodipeptiduria: cell growth, prolidase activity and collagen metabolism. (6408304)
1983
48
Prolidase deficiency: its dermatological manifestations and some additional biochemical studies. (760660)
1979
49
Prolidase deficiency with imidodipeptiduria. A familial case with and without clinical symptoms. (445856)
1979
50
Further studies on a patient with iminodipeptiduria: a probable case of prolidase deficiency. (4674498)
1972

Variations for Prolidase Deficiency

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

68
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)single nucleotide variantPathogenicrs121917721GRCh37Chr 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)single nucleotide variantPathogenicrs747700126GRCh38Chr 19, 33463032: 33463032
4PEPDNM_000285.3(PEPD): c.1103T> G (p.Leu368Arg)single nucleotide variantPathogenicrs797045185GRCh38Chr 19, 33391344: 33391344
5PEPDNM_000285.3(PEPD): c.691_693delTAC (p.Tyr231del)deletionPathogenicrs794728007GRCh38Chr 19, 33413622: 33413624
6PEPDNM_000285.3(PEPD): c.551G> A (p.Arg184Gln)single nucleotide variantPathogenicrs121917722GRCh37Chr 19, 33954966: 33954966
7PEPDNM_000285.3(PEPD): c.833G> A (p.Gly278Asp)single nucleotide variantPathogenicrs121917723GRCh37Chr 19, 33892761: 33892761
8PEPDNM_000285.3(PEPD): c.1342G> A (p.Gly448Arg)single nucleotide variantPathogenicrs121917724GRCh37Chr 19, 33878798: 33878798
9PEPDNM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del)deletionPathogenicrs757386104GRCh38Chr 19, 33387465: 33387467
10PEPDNM_000285.3(PEPD): c.793C> T (p.Arg265Ter)single nucleotide variantPathogenicrs121917725GRCh37Chr 19, 33902603: 33902603
11PEPDNM_000285.3(PEPD): c.1234G> A (p.Glu412Lys)single nucleotide variantPathogenicrs267606944GRCh37Chr 19, 33878906: 33878906
12PEPDNM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs)duplicationPathogenicrs794728008GRCh38Chr 19, 33463988: 33464000
13PEPDNM_000285.3(PEPD): c.605C> T (p.Ser202Phe)single nucleotide variantPathogenicrs267606943GRCh37Chr 19, 33954912: 33954912

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet