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

About this section
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

About this section
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

About this section

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



Diseases related to prolidase deficiency

Symptoms for Prolidase Deficiency

About this section

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

Drugs & Therapeutics for Prolidase Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Prolidase Deficiency


Cochrane evidence based reviews: prolidase deficiency

Genetic Tests for Prolidase Deficiency

About this section

Genetic tests related to Prolidase Deficiency:

id Genetic test Affiliating Genes
1 Prolidase Deficiency22 PEPD

Anatomical Context for Prolidase Deficiency

About this section

MalaCards organs/tissues related to Prolidase Deficiency:

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

Animal Models for Prolidase Deficiency or affiliated genes

About this section

Publications for Prolidase Deficiency

About this section

Articles related to Prolidase Deficiency:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Sweet's syndrome associated with chronic neutrophilic leukemia. (25751350)
2015
2
Staging laparotomy for endometrial cancer in a patient with situs inversus totalis: A case report. (25202406)
2014
3
Trends in breast reconstruction: patients, providers, and health care. (24073729)
2013
4
What role does wheat play in the symptoms of irritable bowel syndrome? (23983652)
2013
5
Postural muscle responses and adaptations to backward platform perturbations in young people with and without intellectual disability. (24373785)
2013
6
Classifying an unpredictable disease: the revised Atlanta classification of acute pancreatitis. (23220948)
2013
7
The synthetic cannabinoid R(+)WIN55,212-2 augments interferon-I^ expression via peroxisome proliferator-activated receptor-I+. (22654113)
2012
8
Endoscopic features of mesenteric panniculitis by double-balloon enteroscopy. (22796033)
2012
9
MRI findings of intracranial malformations in a case with Fraser syndrome. (22827970)
2012
10
Re: The Role of Vacuum Pump Therapy to Mechanically Straighten the Penis in Peyronie's Disease. (22088643)
2011
11
Diffusion tensor imaging of peripheral nerve in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a feasibility study. (21318578)
2011
12
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. (21858081)
2011
13
Variation in CAG repeat length of the androgen receptor gene predicts variables associated with intrasexual competitiveness in human males. (21722642)
2011
14
Recipient area folliculitis after follicular-unit transplantation: characterization of clinical features and analysis of associated factors. (20533937)
2010
15
Cytokine responses to carbohydrate ingestion during recovery from exercise-induced muscle injury. (20187772)
2010
16
Endometrial polyps: clinical and epidemiological aspects and analysis of polymorphisms]. (21152841)
2010
17
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. (20207735)
2010
18
Thoracoscopic repair of congenital esophageal atresia in infants. (19243269)
2009
19
Co-existence of Hashimoto's thyroiditis with familial Mediterranean fever: is there a pathophysiological association between the two diseases? (19250274)
2009
20
MS80, a novel sulfated oligosaccharide, inhibits pulmonary fibrosis by targeting TGF-beta1 both in vitro and in vivo. (19543300)
2009
21
Tumor necrosis factor-alpha alters the modulatory effects of mesenchymal stem cells on osteoclast formation and function. (19374589)
2009
22
The immunogenic CBD1 peptide corresponding to the caveolin-1 binding domain in HIV-1 envelope gp41 has the capacity to penetrate the cell membrane and bind caveolin-1. (18054388)
2008
23
An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region. (18384666)
2008
24
What is your diagnosis? Cutaneous larva migrans. (17713144)
2007
25
Regression of white matter hypodensities with age in Aicardi-GoutierAcs syndrome: a case report. (16802170)
2006
26
Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (15944200)
2005
27
Septic pelvic thrombophlebitis and preeclampsia are related disorders. (15117606)
2004
28
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency. (15243989)
2004
29
ADA3-containing complexes associate with estrogen receptor alpha. (12034840)
2002
30
Pulmonary epithelial cell maturation in hyperplastic lungs associated with fetal tracheal agenesis. (11733921)
2001
31
Proliferation and differentiation rates of a human osteoblast-like cell line (SaOS-2) in contact with different bone substitute materials. (11416860)
2001
32
Premature ovarian failure in the fragile X syndrome. (11449487)
2000
33
No coding variant of the tryptophan hydroxylase gene detected in seasonal affective disorder, obsessive-compulsive disorder, anorexia nervosa, and alcoholism. (10088048)
1999
34
IgE enhances Fc epsilon receptor I expression and IgE-dependent release of histamine and lipid mediators from human umbilical cord blood-derived mast cells: synergistic effect of IL-4 and IgE on human mast cell Fc epsilon receptor I expression and mediator release. (10228025)
1999
35
An unproven technique with potentially fatal outcome: provocation/neutralization in a patient with systemic mastocytosis. (9988209)
1999
36
Basophils and mast cells in airway inflammation and asthma. (9753516)
1998
37
Inhibition of lipid peroxidation by selenium in chick embryos. (9183564)
1997
38
The function of inositol high polyphosphate binding proteins. (9230692)
1997
39
High glucose-induced TGF-beta 1 regulates mesangial production of heparan sulfate proteoglycan. (8928843)
1996
40
Alveolar epithelial lining fluid cellularity, protein and endothelin-1 in children with congenital heart disease. (8836647)
1996
41
Hodgkin cells accumulate mRNA for bcl-2. (7474920)
1995
42
Towards understanding the role of the first extracellular loop for the binding of peptide hormones to G-protein coupled receptors. (7480069)
1995
43
The &quot;interleukin 1 receptor antagonist&quot; is a partial agonist of prostaglandin synthesis by human decidual cells. (8295979)
1993
44
Bilateral spontaneous steinstrasse and nephrocalcinosi associated with distal renal tubular acidosis. (8326580)
1993
45
Inhibition of K1735-M2 melanoma cell invasion in vitro by retinoic acid. (8375116)
1993
46
Pathological case of the month. Spinal chordoma. (1456263)
1992
47
Idiopathic arterial calcification of infancy. (2007222)
1991
48
The immunogenicity and allergenicity of an experimental cow's milk protein hydrolysate]. (1697718)
1990
49
Mandibular metastasis from a cerebellar medulloblastoma. (2395054)
1990
50
Impending rupture of nonaneurysmal bacterial aortitis: CT diagnosis. (2229573)
1990

Variations for Prolidase Deficiency

About this section

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

About this section
Search GEO for disease gene expression data for Prolidase Deficiency.

Pathways for genes affiliated with Prolidase Deficiency

About this section

GO Terms for genes affiliated with Prolidase Deficiency

About this section

Sources for Prolidase Deficiency

About this section
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