PD
MCID: PRL019
MIFTS: 44

Prolidase Deficiency (PD) malady

Cardiovascular, Skin, Metabolic categories

Summaries for Prolidase Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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: Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to vasculitis and splenomegaly, 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). The compounds prednisolone and hematoxylin have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and lung.

NIH Rare Diseases:43 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:64 Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated... more...

Description from OMIM:47 170100

Aliases & Classifications for Prolidase Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Skin, Metabolic


Characteristics (Orphanet epidemiological data):

49
hyperimidodipeptiduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

prolidase deficiency 43 21 47 49
hyperimidodipeptiduria 43 21 49 61
imidodipeptidase deficiency 43 21
peptidase deficiency 43 21
pd 43 21
parkinson disease, late-onset 61
deficiency of prolidase 61


External Ids:

OMIM47 170100
MESH via Orphanet36 D056732
ICD10 via Orphanet26 E72.8
SNOMED-CT via Orphanet58 360994007, 361010007, 410055005
UMLS via Orphanet62 C0268532, C1534653

Related Diseases for Prolidase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1vasculitis30.0PEPD
2splenomegaly30.0SLC17A5, PEPD
3cystic fibrosis30.0ELN, PEPD
4wilson disease29.8SLC17A5
5pendred syndrome10.6
6parkinson's disease10.5
7systemic lupus erythematosus10.4
8paroxysmal dyskinesia10.3
9enlarged vestibular aqueduct10.3
10pyridoxine-dependent epilepsy10.2
11protein s deficiency10.2
12t cell deficiency10.2
13wolff-parkinson-white syndrome10.2
14lrrk2-related parkinson disease10.2
15sleep disorder10.2
16tremor10.2
17deficiency anemia10.1
18n syndrome10.1
19protein c deficiency10.1
20arthritis10.1
21b cell deficiency10.1
22squamous cell carcinoma10.1
23hematopoietic stem cell transplantation10.1
24essential tremor10.0
25pathological gambling10.0
26tuberculosis10.0
27pendred syndrome/dfnb410.0
28corticobasal degeneration10.0
29pigment-dispersion syndrome10.0
30autonomic dysfunction10.0
31hypoxia10.0
32parkinson disease, late-onset10.0
33peritoneal carcinoma10.0
34primary peritoneal carcinoma10.0
35melanoma10.0PEPD
36intellectual disability10.0PEPD
37connective tissue disease10.0ELN, PEPD
38mental retardation10.0PEPD, ELN
39skin disease10.0ELN, PEPD
40anterior cruciate ligament tears9.9
41paralytic ileus9.9
42estrogen-receptor positive breast cancer9.9
43renovascular hypertension9.9
44hepatitis c9.9
45ovarian endometriosis9.9
46sensorineural hearing loss9.9
47atopic dermatitis9.9
48hepatitis e9.9
49lewy body dementia9.9
50small cell carcinoma9.9

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



Diseases related to prolidase deficiency

Clinical Features for Prolidase Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

170100

Clinical synopsis from OMIM:

170100

Symptoms:

49 (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

Drugs & Therapeutics for Prolidase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Prolidase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Prolidase Deficiency

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Genetic Tests for Prolidase Deficiency

Anatomical Context for Prolidase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Prolidase Deficiency:

33
Spleen, Liver, Lung, Skin

Animal Models for Prolidase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Prolidase Deficiency

Sources:
51PubMed
See all sources

Articles related to Prolidase Deficiency:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
Prolidase deficiency breaks tolerance to lupus-associated antigens. (24330273)
2013
2
A photographic essay of prolidase deficiency. (21760498)
2011
3
Prolidase deficiency: a rare aetiology of arthritis. (20031465)
2010
4
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
5
Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. (17166065)
2006
6
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. (16434239)
2006
7
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. (16470701)
2006
8
Ulcus cruris associated with prolidase deficiency. (17459310)
2006
9
Prolidase deficiency and the biochemical assays used in its diagnosis. (16298326)
2006
10
Leg ulcers secondary to prolidase deficiency. (15632738)
2004
11
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
12
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
13
Prolidase deficiency with hyperimmunoglobulin E: a case report. (12000488)
2002
14
Prolidase deficiency. (11895514)
2002
15
Mild, late-onset prolidase deficiency: another Italian case. (11260036)
2001
16
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine. (11916317)
2001
17
Transient beneficial effect of GH replacement therapy and topical GH application on skin ulcers in a boy with prolidase deficiency. (10886759)
2000
18
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency. (10721675)
2000
19
Squamous cell carcinoma of the leg in a patient with prolidase deficiency. (10233241)
1999
20
Prolidase deficiency and systemic lupus erythematosus. (9196362)
1997
21
Four novel PEPD alleles causing prolidase deficiency. (8198124)
1994
22
Prolidase deficiency: biochemical study of erythrocyte and skin fibroblast prolidase activity in Italian patients. (15378943)
1994
23
Measurement of iminodipeptides in the serum of patients with prolidase deficiency using liquid chromatography-mass spectrometry. (8031960)
1994
24
Immune function in prolidase deficiency. (7807949)
1994
25
Prolidase deficiency: a multisystemic hereditary disorder. (8408817)
1993
26
Normal production, nature, and extent of intracellular degradation of newly synthesized collagen in fibroblasts from a patient with prolidase deficiency. (8339543)
1993
27
Blood transfusions in the therapy of a case of prolidase deficiency. (1536787)
1992
28
Abnormal mRNA and inactive polypeptide in a patient with prolidase deficiency. (1779623)
1991
29
Angiopathic pathogenesis of clinical manifestations in prolidase deficiency. (1986698)
1991
30
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. (1688567)
1990
31
Liquid chromatography-mass spectrometry for the qualitative analyses of iminodipeptides in the urine of patients with prolidase deficiency. (2387877)
1990
32
Prolidase deficiency: a case report and literature review. (2679858)
1989
33
Characteristics and partial purification of prolidase and prolinase from leukocytes of a normal human and a patient with prolidase deficiency. (2743570)
1989
34
Separation of two erythrocyte prolidase isoforms by fast protein liquid chromatography; application to prolidase deficiency. (2778008)
1989
35
Immunochemical analyses of prolidase deficiency sera. (3134479)
1988
36
Biochemical studies on prolidase in sera from control, patients with prolidase deficiency and their mother. (3139929)
1988
37
Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects. (3827281)
1987
38
Immunochemical studies of human prolidase with monoclonal and polyclonal antibodies: absence of the subunit of prolidase in erythrocytes from a patient with prolidase deficiency. (3324031)
1987
39
Effect of topical application of glycine and proline on recalcitrant leg ulcers of prolidase deficiency. (3717972)
1986
40
Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency. (3939542)
1985
41
An autopsy case of prolidase deficiency. (3922107)
1985
42
Clinical and biochemical characteristics of prolidase deficiency in siblings. (6507502)
1984
43
Prolidase deficiency: characteristics of human skin fibroblast prolidase using colorimetric and fluorimetric assays. (6499208)
1984
44
Human erythrocyte prolidase and prolidase deficiency. (7063276)
1982
45
Screening method for prolidase deficiency. (7239517)
1981
46
Studies on prolidase deficiency with a possible defect in collagen metabolism. (7314091)
1981
47
Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers. (7316526)
1981
48
Prolidase deficiency with iminodipeptiduria: biochemical investigations and first results of attempted therapy. (6790856)
1981
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

Genetic Variations for Prolidase Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Prolidase Deficiency:

63
id Symbol AA change Variation SNP ID
1PEPDp.Asp276AsnVAR_004404
2PEPDp.Gly448ArgVAR_004405
3PEPDp.Arg184GlnVAR_011614
4PEPDp.Gly278AspVAR_011615

Expression for genes affiliated with Prolidase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Prolidase Deficiency

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Prolidase Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1prednisolone45 29 1111.6PEPD, SLC17A5
2hematoxylin459.4ELN, SLC17A5
3betacarotene459.4ELN, SLC17A5
4procollagen459.4SLC17A5, ELN
5polyethylene glycol459.4ELN, SLC17A5
6glutamine459.3PEPD, SLC17A5
7dmso459.3ELN, SLC17A5
8nacl459.3ELN, SLC17A5
9valine459.2PEPD, ELN
10methionine459.2SLC17A5, PEPD
11n acetylcysteine459.2ELN, SLC17A5
12manganese45 2410.1PEPD, ELN
13ascorbic acid45 2410.1ELN, SLC17A5
14hydroxyproline45 11 2410.8ELN, PEPD, SLC17A5
15hyaluronic acid45 249.8SLC17A5, PEPD, ELN
16fibrinogen458.8ELN, SLC17A5
17proline458.8ELN, PEPD, SLC17A5
18creatinine458.8SLC17A5, PEPD, ELN
19glutamate458.8SLC17A5, PEPD, ELN
20alanine458.8ELN, PEPD, SLC17A5

GO Terms for genes affiliated with Prolidase Deficiency

Products for genes affiliated with Prolidase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prolidase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet