PD
MCID: PRL019
MIFTS: 52

Prolidase Deficiency (PD) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Metabolic diseases categories
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Summaries for Prolidase Deficiency

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Genetics Home Reference:21 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 based summary: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to splenomegaly and thrombocytopenia, and has symptoms including facial dysmorphism, flat cheek bones/malar hypoplasia and depressed nasal bridge. An important gene associated with Prolidase Deficiency is PEPD (peptidase D), and among its related pathways is Lysosome. The compounds hydroxyproline and prednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver.

NIH Rare Diseases:42 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:65 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...

Description from OMIM:46 170100

Aliases & Classifications for Prolidase Deficiency

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Prolidase Deficiency, Aliases & Descriptions:

Name: Prolidase Deficiency 42 21 46 48
Hyperimidodipeptiduria 42 21 48 62
Imidodipeptidase Deficiency 42 21 62
Peptidase Deficiency 42 21
 
Pd 42 21
Parkinson Disease, Late-Onset 62
Deficiency of Prolidase 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
hyperimidodipeptiduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 170100
MESH via Orphanet35 D056732
ICD10 via Orphanet26 E72.8
UMLS via Orphanet63 C0268532, C1534653

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:

48 (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 55)
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 recurrent respiratory infections hallmark (90%) HP:0002205
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 depressed nasal bridge hallmark (90%) HP:0005280
12 cheekbone underdevelopment hallmark (90%) HP:0010669
13 skin ulcer hallmark (90%) HP:0200042
14 low anterior hairline typical (50%) HP:0000294
15 hypertelorism typical (50%) HP:0000316
16 micrognathia typical (50%) HP:0000347
17 depressed nasal ridge typical (50%) HP:0000457
18 visual impairment typical (50%) HP:0000505
19 single transverse palmar crease typical (50%) HP:0000954
20 hypertrichosis typical (50%) HP:0000998
21 arachnodactyly typical (50%) HP:0001166
22 abnormality of the fingernails typical (50%) HP:0001231
23 white forelock typical (50%) HP:0002211
24 genu valgum typical (50%) HP:0002857
25 abnormal retinal pigmentation typical (50%) HP:0007703
26 malar flattening occasional (7.5%) HP:0000272
27 proptosis occasional (7.5%) HP:0000520
28 splenomegaly occasional (7.5%) HP:0001744
29 hepatomegaly occasional (7.5%) HP:0002240
30 reduced bone mineral density occasional (7.5%) HP:0004349
31 cognitive impairment occasional (7.5%) HP:0100543
32 urinary bladder inflammation occasional (7.5%) HP:0100577
33 autosomal recessive inheritance HP:0000007
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 chronic lung disease HP:0006528
51 recurrent pneumonia HP:0006532
52 prolonged neonatal jaundice HP:0006579
53 crusting erythematous dermatitis HP:0007473
54 diffuse telangiectasia HP:0007489
55 prominent forehead HP:0011220

Drugs & Therapeutics for Prolidase Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Prolidase Deficiency

Genetic Tests for Prolidase Deficiency

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Anatomical Context for Prolidase Deficiency

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MalaCards organs/tissues related to Prolidase Deficiency:

32
Skin, Bone, Liver, Lung, Spleen, 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 116)
idTitleAuthorsYear
1
Prolidase deficiency: dento-facial aspects in a paediatric patient. (25299025)
2014
2
Massive Splenomegaly Secondary to Prolidase Deficiency. (23811574)
2013
3
Prolidase deficiency breaks tolerance to lupus-associated antigens. (24330273)
2013
4
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. (22726576)
2012
5
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. (19308961)
2010
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
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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UniProtKB/Swiss-Prot genetic disease variations for Prolidase Deficiency:

64
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:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1MC1RNM_002386.3(MC1R): c.451C> T (p.Arg151Cys)single nucleotide variantPathogenicrs1805007GRCh37Chr 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 variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
14GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043

Expression for genes affiliated with Prolidase Deficiency

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Expression patterns in normal tissues for genes affiliated with Prolidase Deficiency

Search GEO for disease gene expression data for Prolidase Deficiency.

Pathways for genes affiliated with Prolidase Deficiency

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Pathways related to Prolidase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SLC17A5, GBA

Compounds for genes affiliated with Prolidase Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 50PharmGKB
See all sources

Compounds related to Prolidase Deficiency according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1hydroxyproline44 24 1111.8SLC17A5, PEPD
2prednisolone44 28 1111.7PEPD, SLC17A5
3hyaluronic acid44 2410.7SLC17A5, PEPD
4tripeptide s449.7MC1R, PEPD
5tripeptide449.7MC1R, PEPD
6methionine449.6SLC17A5, PEPD
7folate449.6MC1R, SLC17A5
8glutamine449.5SLC17A5, PEPD
9superoxide44 2410.4SLC17A5, PEPD
10pyruvate449.4SLC17A5, GBA
11aspirin44 50 28 2412.4PEPD, GBA
12methotrexate50 44 1111.4SLC17A5, GBA
13phospholipid449.3SLC17A5, GBA
14hydrogen44 2410.2PEPD, GBA
15creatinine449.1SLC17A5, PEPD
16leucine449.1PEPD, GBA
17alanine449.1PEPD, SLC17A5, MC1R
18thymidine44 2410.0PEPD, GBA
19proline448.9PEPD, SLC17A5, GBA
20glucose448.9SLC17A5, GBA, PEPD
21serine448.7MC1R, PEPD, GBA

GO Terms for genes affiliated with Prolidase Deficiency

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Cellular components related to Prolidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057659.1SLC17A5, GBA

Products for genes affiliated with Prolidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Prolidase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet