PD
MCID: PRL019
MIFTS: 48

Prolidase Deficiency (PD) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases categories

Summaries for Prolidase Deficiency

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44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to splenomegaly and parkinson's disease, and has symptoms including proptosis/exophthalmos, hirsutism/hypertrichosis/increased body hair and genu valgum. An important gene associated with Prolidase Deficiency is PEPD (peptidase D). The compounds hydroxyproline and prednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver.

NIH Rare Diseases:44 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). last updated: 3/16/2010

Wikipedia:66 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...

Description from OMIM:48 170100

Aliases & Classifications for Prolidase Deficiency

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Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hyperimidodipeptiduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

prolidase deficiency 44 22 48 50
hyperimidodipeptiduria 44 22 50 63
imidodipeptidase deficiency 44 22
peptidase deficiency 44 22
pd 44 22
parkinson disease, late-onset 63
deficiency of prolidase 63


External Ids:

OMIM48 170100
MESH via Orphanet37 D056732
ICD10 via Orphanet27 E72.8
SNOMED-CT via Orphanet60 360994007, 361010007, 410055005
UMLS via Orphanet64 C0268532, C1534653

Related Diseases for Prolidase Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

170100

Clinical features from OMIM:

170100

Symptoms:

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

Drugs & Therapeutics for Prolidase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Prolidase Deficiency

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Anatomical Context for Prolidase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Prolidase Deficiency:

34
Skin, Bone, Liver, Lung

Animal Models for Prolidase Deficiency or affiliated genes

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Publications for Prolidase Deficiency

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53PubMed
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Articles related to Prolidase Deficiency:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Massive Splenomegaly Secondary to Prolidase Deficiency. (23811574)
2013
2
Prolidase deficiency breaks tolerance to lupus-associated antigens. (24330273)
2013
3
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. (22726576)
2012
4
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. (19308961)
2010
5
Characterization of prolidase I and II purified from normal human erythrocytes: comparison with prolidase in erythrocytes from a patient with prolidase deficiency. (19263194)
2009
6
Different effects of sulfur amino acids on prolidase and prolinase activity in normal and prolidase-deficient human erythrocytes. (16899234)
2007
7
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. (17517257)
2007
8
Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. (17166065)
2006
9
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
10
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia. (16863530)
2006
11
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. (16434239)
2006
12
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. (16470701)
2006
13
Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patients. (15653144)
2005
14
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. (15552267)
2004
15
Leg ulcers secondary to prolidase deficiency. (15632738)
2004
16
Prolidase deficiency: case reports of two Argentinian brothers. (15357754)
2004
17
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
18
Prolidase deficiency with hyperimmunoglobulin E: a case report. (12000488)
2002
19
Therapeutic apheresis exchange in two patients with prolidase deficiency. (12452876)
2002
20
Mild, late-onset prolidase deficiency: another Italian case. (11260036)
2001
21
Hereditary prolidase deficiency. Contribution to differential therapy refractory leg ulcer diagnosis]. (11116849)
2000
22
Prolidase deficiency associated with pathologic myopia. (9587929)
1998
23
Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer. (12503186)
1997
24
Expression and molecular analysis of mutations in prolidase deficiency. (8900231)
1996
25
Four novel PEPD alleles causing prolidase deficiency. (8198124)
1994
26
Prolidase deficiency: a multisystemic hereditary disorder. (8408817)
1993
27
Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency. (8258246)
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Prolidase Deficiency:

65
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:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1MC1RNM_002386.3(MC1R): c.451C> T (p.Arg151Cys)single nucleotide variantPathogenic, risk factorrs1805007GRCh37Chr 16, 89986117: 89986117
2PEPDNM_000285.3(PEPD): c.826G> A (p.Asp276Asn)single nucleotide variantPathogenicrs121917721GRCh37Chr 19, 33892768: 33892768
3PEPDPEPD, EX14DELdeletionPathogenic
4PEPDPEPD, 3-BP DEL, 707TACdeletionPathogenic
5PEPDNM_000285.3(PEPD): c.551G> A (p.Arg184Gln)single nucleotide variantPathogenicrs121917722GRCh37Chr 19, 33954966: 33954966
6PEPDNM_000285.3(PEPD): c.833G> A (p.Gly278Asp)single nucleotide variantPathogenicrs121917723GRCh37Chr 19, 33892761: 33892761
7PEPDNM_000285.3(PEPD): c.1342G> A (p.Gly448Arg)single nucleotide variantPathogenicrs121917724GRCh37Chr 19, 33878798: 33878798
8PEPDPEPD, 3-BP DEL, GLU452DELdeletionPathogenic
9PEPDNM_000285.3(PEPD): c.793C> T (p.Arg265Ter)single nucleotide variantPathogenicrs121917725GRCh37Chr 19, 33902603: 33902603
10PEPDNM_000285.3(PEPD): c.1234G> A (p.Glu412Lys)single nucleotide variantPathogenicrs267606944GRCh37Chr 19, 33878906: 33878906
11PEPDPEPD, 13-BP DUPduplicationPathogenic
12PEPDNM_000285.3(PEPD): c.605C> T (p.Ser202Phe)single nucleotide variantPathogenicrs267606943GRCh37Chr 19, 33954912: 33954912
13GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
14GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
15GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
16GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043

Expression for genes affiliated with Prolidase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prolidase Deficiency

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Pathways for genes affiliated with Prolidase Deficiency

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Compounds for genes affiliated with Prolidase Deficiency

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Prolidase Deficiency according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1hydroxyproline46 25 1211.4SLC17A5, PEPD
2prednisolone46 30 1211.4PEPD, SLC17A5
3hyaluronic acid46 2510.4PEPD, SLC17A5
4methionine469.3PEPD, SLC17A5
5proline469.3PEPD, SLC17A5
6glutamine469.3PEPD, SLC17A5
7superoxide46 2510.2PEPD, SLC17A5
8creatinine469.2PEPD, SLC17A5
9glutamate469.1SLC17A5, PEPD
10tyrosine469.1SLC17A5, PEPD
11alanine469.0SLC17A5, PEPD
12glucose468.8SLC17A5, PEPD

GO Terms for genes affiliated with Prolidase Deficiency

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Products for genes affiliated with Prolidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prolidase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet