PD
MCID: PRL019
MIFTS: 44

Prolidase Deficiency (PD)

Categories: Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Prolidase Deficiency

MalaCards integrated aliases for Prolidase Deficiency:

Name: Prolidase Deficiency 58 77 25 54 26 60 76 38 30 13 6 45 41
Hyperimidodipeptiduria 54 26 60
Pd 54 26 76
Imidodipeptidase Deficiency 54 26
Peptidase Deficiency 54 26
Deficiency of Prolidase 74

Characteristics:

Orphanet epidemiological data:

60
prolidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
median age at diagnosis 7 years
highly variable expression


HPO:

33
prolidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prolidase Deficiency

OMIM : 58 Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectases with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008). (170100)

MalaCards based summary : Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to parkinson disease, late-onset and glaucoma-related pigment dispersion syndrome, and has symptoms including petechiae of skin An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, liver and spleen, and related phenotypes are hearing impairment and recurrent respiratory infections

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen... more...

GeneReviews: NBK299584

Related Diseases for Prolidase Deficiency

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

(show top 50) (show all 262)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 12.2
2 glaucoma-related pigment dispersion syndrome 11.7
3 pendred syndrome 11.6
4 multiple system atrophy 1 11.3
5 personality disorder 11.3
6 synucleinopathy 11.3
7 corticobasal degeneration 11.3
8 ehlers-danlos syndrome, spondylodysplastic type, 1 11.2
9 spondylodysplastic ehlers-danlos syndrome 11.2
10 ectodermal dysplasia/skin fragility syndrome 11.1
11 parkinson disease 19a, juvenile-onset 11.1
12 palladium allergic contact dermatitis 11.0
13 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.0
14 dementia, lewy body 10.9
15 pick disease of brain 10.9
16 thyroxine-binding globulin quantitative trait locus 10.9
17 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9
18 kufor-rakeb syndrome 10.9
19 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.9
20 parkinson disease 17 10.9
21 parkinson disease 18, autosomal dominant 10.9
22 parkinson disease 20, early-onset 10.9
23 parkinson disease 21 10.9
24 diphallia 10.9
25 deep brain stimulation for movement disorders 10.9
26 primary orthostatic tremor 10.5
27 peritonitis 10.3
28 pancreas disease 10.2
29 tremor 10.2
30 systemic lupus erythematosus 10.1
31 lupus erythematosus 10.1
32 pontocerebellar hypoplasia 10.1
33 retinoblastoma 10.1
34 dementia 10.1
35 essential tremor 10.1
36 panic disorder 10.1
37 streptococcal group a invasive disease 10.1
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
39 autoimmune progesterone dermatitis 10.1
40 depression 10.1
41 lung cancer 10.0
42 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
43 horns in sheep 10.0
44 pemphigus foliaceus 10.0
45 rem sleep behavior disorder 10.0
46 intraocular pressure quantitative trait locus 10.0
47 periodontal disease 10.0
48 movement disease 10.0
49 cervical intraepithelial neoplasia 10.0
50 nodular lymphocyte predominant hodgkin lymphoma 10.0

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



Diseases related to Prolidase Deficiency

Symptoms & Phenotypes for Prolidase Deficiency

Human phenotypes related to Prolidase Deficiency:

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
5 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
6 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
7 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
8 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
9 abnormality of the hip bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003272
10 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
11 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
12 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
13 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
14 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
15 abnormality of the middle ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000370
16 crusting erythematous dermatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007473
17 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
18 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
19 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
20 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
21 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
22 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
23 abnormality of the fingernails 60 33 frequent (33%) Frequent (79-30%) HP:0001231
24 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
25 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
26 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
27 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
28 white forelock 60 33 frequent (33%) Frequent (79-30%) HP:0002211
29 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
30 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
31 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
32 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
33 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
34 recurrent cystitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012786
35 hypoplasia of the zygomatic bone 33 occasional (7.5%) HP:0010669
36 ptosis 33 HP:0000508
37 global developmental delay 33 HP:0001263
38 short nose 33 HP:0003196
39 prominent forehead 33 HP:0011220
40 abnormality of metabolism/homeostasis 33 HP:0001939
41 anemia 33 HP:0001903
42 hyperkeratosis 60 Very frequent (99-80%)
43 low posterior hairline 33 HP:0002162
44 thrombocytopenia 33 HP:0001873
45 abnormality of the immune system 60 Very frequent (99-80%)
46 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
47 asthma 33 HP:0002099
48 recurrent infections 33 HP:0002719
49 recurrent pneumonia 33 HP:0006532
50 petechiae 33 HP:0000967

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
exophthalmos
ocular proptosis
upslanting or downslanting palpebral fissures

Abdomen Liver:
hepatomegaly
jaundice, neonatal

Hematology:
anemia
thrombocytopenia
petechiae

Respiratory Lung:
asthma
chronic lung disease
pulmonary infections, recurrent

Skin Nails Hair Skin:
crusting erythematous dermatitis
diffuse telangiectases
impetigo-like eruptions
pruritic eczematous lesions
severe progressive ulceration of lower extremities

Head And Neck Nose:
beaked nose
small nose
low nasal root

Laboratory Abnormalities:
hyperimidodipeptiduria
deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

Abdomen Spleen:
splenomegaly

Head And Neck Face:
prominent forehead
facial dysmorphism

Skin Nails Hair Hair:
low posterior hairline

Immunology:
systemic lupus erythematosus
elevated immunoglobulins, particularly ige
increased frequency of infection

Neurologic Central Nervous System:
developmental delay

Head And Neck Mouth:
slender upper lip

Clinical features from OMIM:

170100

UMLS symptoms related to Prolidase Deficiency:


petechiae of skin

Drugs & Therapeutics for Prolidase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prolidase Enzyme Activity in Stroke Patients Completed NCT03334968

Search NIH Clinical Center for Prolidase Deficiency

Cochrane evidence based reviews: prolidase deficiency

Genetic Tests for Prolidase Deficiency

Genetic tests related to Prolidase Deficiency:

# Genetic test Affiliating Genes
1 Prolidase Deficiency 30 PEPD

Anatomical Context for Prolidase Deficiency

MalaCards organs/tissues related to Prolidase Deficiency:

42
Skin, Liver, Spleen, Lung, Bone, Neutrophil

Publications for Prolidase Deficiency

Articles related to Prolidase Deficiency:

(show top 50) (show all 126)
# Title Authors Year
1
Topical proline therapy in prolidase deficiency. ( 29943458 )
2018
2
Structural basis for prolidase deficiency disease mechanisms. ( 30066404 )
2018
3
A Case Of 13-Year-Old Girl With Prolidase Deficiency. ( 28718266 )
2017
4
Prolidase deficiency in two sisters with recurrent ulcerations of the lower extremities. ( 29058805 )
2017
5
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. ( 28062424 )
2017
6
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency. ( 27067078 )
2016
7
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency. ( 26637345 )
2016
8
Pulmonary manifestations of prolidase deficiency. ( 27132891 )
2016
9
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. ( 27385964 )
2016
10
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. ( 25603535 )
2015
11
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION. ( 26349190 )
2015
12
A case of prolidase deficiency accompanying leg ulcers. ( 25691319 )
2015
13
Prolidase deficiency: dento-facial aspects in a paediatric patient. ( 25101509 )
2014
14
Prolidase deficiency: dento-facial aspects in a paediatric patient. ( 25299025 )
2014
15
Massive Splenomegaly Secondary to Prolidase Deficiency. ( 23811574 )
2013
16
Prolidase deficiency breaks tolerance to lupus-associated antigens. ( 24330273 )
2013
17
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. ( 22726576 )
2012
18
Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations. ( 23430876 )
2012
19
Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis. ( 21699887 )
2011
20
Developmental cardiac hypertrophy in a mouse model of prolidase deficiency. ( 21472842 )
2011
21
A photographic essay of prolidase deficiency. ( 21760498 )
2011
22
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. ( 19308961 )
2010
23
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. ( 19937054 )
2010
24
Prolidase deficiency: a rare aetiology of arthritis. ( 20031465 )
2010
25
Characterization of prolidase I and II purified from normal human erythrocytes: comparison with prolidase in erythrocytes from a patient with prolidase deficiency. ( 19263194 )
2009
26
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
27
Prolidase deficiency: the use of topical proline for treatment of leg ulcers. ( 18855790 )
2008
28
Nasal reconstruction in a patient with prolidase deficiency syndrome. ( 18639509 )
2008
29
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. ( 17517257 )
2007
30
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. ( 17570078 )
2007
31
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. ( 16681595 )
2006
32
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. ( 16470701 )
2006
33
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
34
Ulcus cruris associated with prolidase deficiency. ( 17459310 )
2006
35
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia. ( 16863530 )
2006
36
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. ( 16434239 )
2006
37
Prolidase deficiency and the biochemical assays used in its diagnosis. ( 16298326 )
2006
38
[Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. ( 17166065 )
2006
39
Characterization of prolidase activity in erythrocytes from a patient with prolidase deficiency: comparison with prolidase I and II purified from normal human erythrocytes. ( 16009141 )
2005
40
Leg ulcers secondary to prolidase deficiency. ( 15632738 )
2004
41
Effects of amino acids and its metabolites on prolidase activity against various iminodipeptides in erythrocytes from normal human and a patient with prolidase deficiency. ( 15530480 )
2004
42
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. ( 15552267 )
2004
43
Prolidase deficiency: case reports of two Argentinian brothers. ( 15357754 )
2004
44
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
45
Characteristics of prolidase from the erythrocytes of normal humans and patients with prolidase deficiency and their mother. ( 14580160 )
2003
46
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
47
Prolidase deficiency. ( 11895514 )
2002
48
Prolidase deficiency with hyperimmunoglobulin E: a case report. ( 12000488 )
2002
49
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. ( 12384772 )
2002
50
Therapeutic apheresis exchange in two patients with prolidase deficiency. ( 12452876 )
2002

Variations for Prolidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Prolidase Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 PEPD p.Asp276Asn VAR_004404 rs121917721
2 PEPD p.Gly448Arg VAR_004405 rs121917724
3 PEPD p.Arg184Gln VAR_011614 rs121917722
4 PEPD p.Gly278Asp VAR_011615 rs121917723

ClinVar genetic disease variations for Prolidase Deficiency:

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEPD NM_000285.3(PEPD): c.1103T> G (p.Leu368Arg) single nucleotide variant Pathogenic rs797045185 GRCh38 Chromosome 19, 33391344: 33391344
2 PEPD NM_000285.3(PEPD): c.1103T> G (p.Leu368Arg) single nucleotide variant Pathogenic rs797045185 GRCh37 Chromosome 19, 33882250: 33882250
3 PEPD NM_000285.3(PEPD): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs747700126 GRCh38 Chromosome 19, 33463032: 33463032
4 PEPD NM_000285.3(PEPD): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs747700126 GRCh37 Chromosome 19, 33953938: 33953938
5 PEPD NM_000285.3(PEPD): c.826G> A (p.Asp276Asn) single nucleotide variant Pathogenic rs121917721 GRCh37 Chromosome 19, 33892768: 33892768
6 PEPD NM_000285.3(PEPD): c.826G> A (p.Asp276Asn) single nucleotide variant Pathogenic rs121917721 GRCh38 Chromosome 19, 33401862: 33401862
7 PEPD NM_000285.3(PEPD): c.1153_1344del192 (p.Gly385_Gly448del) deletion Pathogenic GRCh38 Chromosome 19, 33387843: 33388624
8 PEPD NM_000285.3(PEPD): c.1153_1344del192 (p.Gly385_Gly448del) deletion Pathogenic GRCh37 Chromosome 19, 33878749: 33879530
9 PEPD NM_000285.3(PEPD): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs121917722 GRCh37 Chromosome 19, 33954966: 33954966
10 PEPD NM_000285.3(PEPD): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs121917722 GRCh38 Chromosome 19, 33464060: 33464060
11 PEPD NM_000285.3(PEPD): c.833G> A (p.Gly278Asp) single nucleotide variant Pathogenic rs121917723 GRCh37 Chromosome 19, 33892761: 33892761
12 PEPD NM_000285.3(PEPD): c.833G> A (p.Gly278Asp) single nucleotide variant Pathogenic rs121917723 GRCh38 Chromosome 19, 33401855: 33401855
13 PEPD NM_000285.3(PEPD): c.1342G> A (p.Gly448Arg) single nucleotide variant Pathogenic rs121917724 GRCh37 Chromosome 19, 33878798: 33878798
14 PEPD NM_000285.3(PEPD): c.1342G> A (p.Gly448Arg) single nucleotide variant Pathogenic rs121917724 GRCh38 Chromosome 19, 33387892: 33387892
15 PEPD NM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del) deletion Pathogenic rs757386104 GRCh38 Chromosome 19, 33387465: 33387467
16 PEPD NM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del) deletion Pathogenic rs757386104 GRCh37 Chromosome 19, 33878371: 33878373
17 PEPD NM_000285.3(PEPD): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917725 GRCh37 Chromosome 19, 33902603: 33902603
18 PEPD NM_000285.3(PEPD): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917725 GRCh38 Chromosome 19, 33411697: 33411697
19 PEPD NM_000285.3(PEPD): c.1234G> A (p.Glu412Lys) single nucleotide variant Pathogenic rs267606944 GRCh37 Chromosome 19, 33878906: 33878906
20 PEPD NM_000285.3(PEPD): c.1234G> A (p.Glu412Lys) single nucleotide variant Pathogenic rs267606944 GRCh38 Chromosome 19, 33388000: 33388000
21 PEPD NM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs) duplication Pathogenic rs794728008 GRCh38 Chromosome 19, 33463988: 33464000
22 PEPD NM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs) duplication Pathogenic rs794728008 GRCh37 Chromosome 19, 33954894: 33954906
23 PEPD NM_000285.3(PEPD): c.605C> T (p.Ser202Phe) single nucleotide variant Pathogenic rs267606943 GRCh37 Chromosome 19, 33954912: 33954912
24 PEPD NM_000285.3(PEPD): c.605C> T (p.Ser202Phe) single nucleotide variant Pathogenic rs267606943 GRCh38 Chromosome 19, 33464006: 33464006
25 PEPD NM_000285.3(PEPD): c.*336_*339dupTTCT duplication Uncertain significance rs886054332 GRCh38 Chromosome 19, 33387005: 33387008
26 PEPD NM_000285.3(PEPD): c.*336_*339dupTTCT duplication Uncertain significance rs886054332 GRCh37 Chromosome 19, 33877911: 33877914
27 PEPD NM_000285.3(PEPD): c.692_694delACT (p.Tyr231del) deletion Uncertain significance rs745834191 GRCh38 Chromosome 19, 33413621: 33413623
28 PEPD NM_000285.3(PEPD): c.*155G> A single nucleotide variant Uncertain significance rs565481482 GRCh38 Chromosome 19, 33387189: 33387189
29 PEPD NM_000285.3(PEPD): c.*155G> A single nucleotide variant Uncertain significance rs565481482 GRCh37 Chromosome 19, 33878095: 33878095
30 PEPD NM_000285.3(PEPD): c.1329T> C (p.Phe443=) single nucleotide variant Uncertain significance rs2230063 GRCh38 Chromosome 19, 33387905: 33387905
31 PEPD NM_000285.3(PEPD): c.1329T> C (p.Phe443=) single nucleotide variant Uncertain significance rs2230063 GRCh37 Chromosome 19, 33878811: 33878811
32 PEPD NM_000285.3(PEPD): c.1163G> A (p.Arg388His) single nucleotide variant Likely benign rs2230062 GRCh37 Chromosome 19, 33878977: 33878977
33 PEPD NM_000285.3(PEPD): c.1163G> A (p.Arg388His) single nucleotide variant Likely benign rs2230062 GRCh38 Chromosome 19, 33388071: 33388071
34 PEPD NM_000285.3(PEPD): c.1098C> T (p.His366=) single nucleotide variant Uncertain significance rs149579451 GRCh37 Chromosome 19, 33882255: 33882255
35 PEPD NM_000285.3(PEPD): c.1098C> T (p.His366=) single nucleotide variant Uncertain significance rs149579451 GRCh38 Chromosome 19, 33391349: 33391349
36 PEPD NM_000285.3(PEPD): c.946G> A (p.Val316Ile) single nucleotide variant Uncertain significance rs370219399 GRCh37 Chromosome 19, 33892648: 33892648
37 PEPD NM_000285.3(PEPD): c.946G> A (p.Val316Ile) single nucleotide variant Uncertain significance rs370219399 GRCh38 Chromosome 19, 33401742: 33401742
38 PEPD NM_000285.3(PEPD): c.834C> T (p.Gly278=) single nucleotide variant Uncertain significance rs371699300 GRCh38 Chromosome 19, 33401854: 33401854
39 PEPD NM_000285.3(PEPD): c.834C> T (p.Gly278=) single nucleotide variant Uncertain significance rs371699300 GRCh37 Chromosome 19, 33892760: 33892760
40 PEPD NM_000285.3(PEPD): c.819-4G> A single nucleotide variant Uncertain significance rs370100218 GRCh38 Chromosome 19, 33401873: 33401873
41 PEPD NM_000285.3(PEPD): c.819-4G> A single nucleotide variant Uncertain significance rs370100218 GRCh37 Chromosome 19, 33892779: 33892779
42 PEPD NM_000285.3(PEPD): c.692_694delACT (p.Tyr231del) deletion Uncertain significance rs745834191 GRCh37 Chromosome 19, 33904527: 33904529
43 PEPD NM_000285.3(PEPD): c.492C> T (p.Asp164=) single nucleotide variant Uncertain significance rs370105932 GRCh38 Chromosome 19, 33490007: 33490007
44 PEPD NM_000285.3(PEPD): c.492C> T (p.Asp164=) single nucleotide variant Uncertain significance rs370105932 GRCh37 Chromosome 19, 33980913: 33980913
45 PEPD NM_000285.3(PEPD): c.279G> A (p.Ser93=) single nucleotide variant Uncertain significance rs780889402 GRCh38 Chromosome 19, 33511078: 33511078
46 PEPD NM_000285.3(PEPD): c.279G> A (p.Ser93=) single nucleotide variant Uncertain significance rs780889402 GRCh37 Chromosome 19, 34001984: 34001984
47 PEPD NM_000285.3(PEPD): c.-61A> G single nucleotide variant Uncertain significance rs886054337 GRCh38 Chromosome 19, 33521821: 33521821
48 PEPD NM_000285.3(PEPD): c.-61A> G single nucleotide variant Uncertain significance rs886054337 GRCh37 Chromosome 19, 34012727: 34012727
49 PEPD NM_000285.3(PEPD): c.504-9G> A single nucleotide variant Uncertain significance rs75766592 GRCh38 Chromosome 19, 33478099: 33478099
50 PEPD NM_000285.3(PEPD): c.504-9G> A single nucleotide variant Uncertain significance rs75766592 GRCh37 Chromosome 19, 33969005: 33969005

Expression for Prolidase Deficiency

Search GEO for disease gene expression data for Prolidase Deficiency.

Pathways for Prolidase Deficiency

GO Terms for Prolidase Deficiency

Sources for Prolidase Deficiency

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