MCID: PRL019
MIFTS: 40

Prolidase Deficiency malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Prolidase Deficiency

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Prolidase Deficiency:

Name: Prolidase Deficiency 49 11 21 45 22 23 51 67 36 24
Hyperimidodipeptiduria 45 23 51
Pd 45 23 67
 
Imidodipeptidase Deficiency 45 23
Peptidase Deficiency 45 23
Deficiency of Prolidase 65

Characteristics:

Orphanet epidemiological data:

51
prolidase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

61
prolidase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 170100
Orphanet51 742
ICD10 via Orphanet28 E72.8
MESH via Orphanet37 D056732
UMLS via Orphanet66 C0268532, C1534653
MedGen34 C0268532
MeSH36 D056732
UMLS65 C0268532

Summaries for Prolidase Deficiency

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OMIM:49 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 skin ulcer, hypoplasia of the zygomatic bone and depressed nasal bridge. An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, liver and spleen.

NIH Rare Diseases:45 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:67 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:23 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:68 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:

 51 (show all 40)
  • facial dysmorphism
  • flat cheek bones/malar hypoplasia
  • depressed nasal bridge
  • multiple caries
  • anomalies of ear and hearing
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • hearing loss/hypoacusia/deafness
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • palmoplantar hyperkeratosis/keratoderma
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • skin photosensitivity
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching
  • thin skin
  • repeat respiratory infections
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal recessive inheritance
  • low hair line-front
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • flattened nose
  • long hand/arachnodactyly
  • simian crease/transverse/unique palmar crease
  • genu valgum
  • hirsutism/hypertrichosis/increased body hair
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • white forelock/piebaldism
  • thin/hypoplastic/hyperconvex fingernails
  • proptosis/exophthalmos
  • depressed premaxillary region/midface
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • bladder inflammation/cystitis/painful/irritable bladder
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets

HPO human phenotypes related to Prolidase Deficiency:

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

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 Deficiency22 PEPD

Anatomical Context for Prolidase Deficiency

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MalaCards organs/tissues related to Prolidase Deficiency:

33
Skin, Liver, Spleen, Bone, Lung, Prostate, Thyroid

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 123)
idTitleAuthorsYear
1
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency. (26637345)
2016
2
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION. (26349190)
2015
3
Massive Splenomegaly Secondary to Prolidase Deficiency. (23811574)
2013
4
Prolidase deficiency breaks tolerance to lupus-associated antigens. (24330273)
2013
5
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. (22726576)
2012
6
Characterization of prolidase I and II purified from normal human erythrocytes: comparison with prolidase in erythrocytes from a patient with prolidase deficiency. (19263194)
2009
7
Different effects of sulfur amino acids on prolidase and prolinase activity in normal and prolidase-deficient human erythrocytes. (16899234)
2007
8
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. (17517257)
2007
9
Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. (17166065)
2006
10
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
11
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia. (16863530)
2006
12
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. (16434239)
2006
13
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. (16470701)
2006
14
Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patients. (15653144)
2005
15
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. (15552267)
2004
16
Leg ulcers secondary to prolidase deficiency. (15632738)
2004
17
Prolidase deficiency: case reports of two Argentinian brothers. (15357754)
2004
18
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
19
Prolidase deficiency with hyperimmunoglobulin E: a case report. (12000488)
2002
20
Mild, late-onset prolidase deficiency: another Italian case. (11260036)
2001
21
Prolidase deficiency associated with pathologic myopia. (9587929)
1998
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
Four novel PEPD alleles causing prolidase deficiency. (8198124)
1994
25
Prolidase deficiency: a multisystemic hereditary disorder. (8408817)
1993
26
Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency. (8258246)
1993
27
Prolidase Deficiency (26110198)
1993
28
Chronic leg ulcer in children with prolidase deficiency]. (1301685)
1992
29
Prolidase deficiency in cultured human fibroblasts: biochemical pathology and iminodipeptide-enhanced growth. (1437403)
1992
30
Blood transfusions in the therapy of a case of prolidase deficiency. (1536787)
1992
31
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
32
Ultrastructural studies on dermis from prolidase deficient subjects. (1913589)
1991
33
Characterization of prolidase I and II from erythrocytes of a control, a patient with prolidase deficiency and her mother. (2317925)
1990
34
Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency. (2515389)
1989
35
Prolidase deficiency: a case report and literature review. (2679858)
1989
36
Prolidase deficiency: biochemical classification of alleles. (2705457)
1989
37
Characteristics and partial purification of prolidase and prolinase from leukocytes of a normal human and a patient with prolidase deficiency. (2743570)
1989
38
Immunochemical analyses of prolidase deficiency sera. (3134479)
1988
39
Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects. (3827281)
1987
40
Effect of topical application of glycine and proline on recalcitrant leg ulcers of prolidase deficiency. (3717972)
1986
41
Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency. (3939542)
1985
42
Clinical and biochemical characteristics of prolidase deficiency in siblings. (6507502)
1984
43
Prolidase deficiency. (6637477)
1983
44
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
45
Human erythrocyte prolidase and prolidase deficiency. (7063276)
1982
46
Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency. (6820420)
1982
47
Screening method for prolidase deficiency. (7239517)
1981
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:

67
id Symbol AA change Variation ID SNP ID
1PEPDp.Asp276AsnVAR_004404
2PEPDp.Gly448ArgVAR_004405
3PEPDp.Arg184GlnVAR_011614
4PEPDp.Gly278AspVAR_011615

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet