MCID: PRL019
MIFTS: 42

Prolidase Deficiency

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

Aliases & Classifications for Prolidase Deficiency

MalaCards integrated aliases for Prolidase Deficiency:

Name: Prolidase Deficiency 57 76 24 53 25 59 75 37 29 13 6 44 40
Hyperimidodipeptiduria 53 25 59
Pd 53 25 75
Imidodipeptidase Deficiency 53 25
Peptidase Deficiency 53 25
Deficiency of Prolidase 73

Characteristics:

Orphanet epidemiological data:

59
prolidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
median age at diagnosis 7 years
highly variable expression


HPO:

32
prolidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prolidase Deficiency

OMIM : 57 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, telangiectasias 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 hypertelorism and genu valgum

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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 : 76 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 54)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 12.1
2 glaucoma-related pigment dispersion syndrome 11.6
3 pendred syndrome 11.5
4 multiple system atrophy 1 11.1
5 personality disorder 11.1
6 corticobasal degeneration 11.1
7 ehlers-danlos syndrome, spondylodysplastic type, 1 11.0
8 spondylodysplastic ehlers-danlos syndrome 11.0
9 ectodermal dysplasia/skin fragility syndrome 10.9
10 parkinson disease 19a, juvenile-onset 10.9
11 methylmalonyl-coa epimerase deficiency 10.9
12 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 10.9
13 dementia, lewy body 10.8
14 pick disease of brain 10.8
15 epilepsy, pyridoxine-dependent 10.8
16 thyroxine-binding globulin quantitative trait locus 10.8
17 convulsions, familial infantile, with paroxysmal choreoathetosis 10.8
18 kufor-rakeb syndrome 10.8
19 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8
20 parkinson disease 17 10.8
21 parkinson disease 18, autosomal dominant 10.8
22 parkinson disease 20, early-onset 10.8
23 parkinson disease 21 10.8
24 synucleinopathy 10.8
25 diphallia 10.8
26 pancreas disease 10.1
27 endotheliitis 10.1
28 peritonitis 10.1
29 systemic lupus erythematosus 10.0
30 lupus erythematosus 10.0
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
32 aging 10.0
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
34 cervicitis 10.0
35 neuronitis 10.0
36 rem sleep behavior disorder 9.9
37 tremor 9.9
38 dementia 9.9
39 panic disorder 9.9
40 thyroiditis 9.9
41 leukemia, acute myeloid 9.8
42 cervical cancer 9.8
43 cystic fibrosis 9.7
44 arthritis 9.7
45 hematopoietic stem cell transplantation 9.7
46 inflammatory bowel disease 9.7
47 microcytic anemia 9.7
48 myopia 9.7
49 squamous cell carcinoma 9.7
50 cutaneous solitary mastocytoma 9.7

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



Diseases related to Prolidase Deficiency

Symptoms & Phenotypes for Prolidase Deficiency

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

Human phenotypes related to Prolidase Deficiency:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
5 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
6 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
7 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
8 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
9 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
10 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
11 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
12 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
13 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
14 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
15 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
16 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
17 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
18 abnormality of the hip bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003272
19 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
20 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
21 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
22 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
23 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
24 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
25 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
26 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
27 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
28 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
29 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
30 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
31 white forelock 59 32 frequent (33%) Frequent (79-30%) HP:0002211
32 abnormality of the middle ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000370
33 crusting erythematous dermatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007473
34 recurrent cystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012786
35 ptosis 32 HP:0000508
36 global developmental delay 32 HP:0001263
37 short nose 32 HP:0003196
38 prominent forehead 32 HP:0011220
39 abnormality of metabolism/homeostasis 32 HP:0001939
40 anemia 32 HP:0001903
41 hyperkeratosis 59 Very frequent (99-80%)
42 low posterior hairline 32 HP:0002162
43 thrombocytopenia 32 HP:0001873
44 abnormality of the immune system 59 Very frequent (99-80%)
45 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
46 asthma 32 HP:0002099
47 recurrent infections 32 HP:0002719
48 recurrent pneumonia 32 HP:0006532
49 petechiae 32 HP:0000967
50 cheekbone underdevelopment 59 Occasional (29-5%)

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 29 PEPD

Anatomical Context for Prolidase Deficiency

MalaCards organs/tissues related to Prolidase Deficiency:

41
Skin, Liver, Spleen, Lung, Bone, Neutrophil, Brain

Publications for Prolidase Deficiency

Articles related to Prolidase Deficiency:

(show top 50) (show all 129)
# Title Authors Year
1
Topical proline therapy in prolidase deficiency. ( 29943458 )
2018
2
A Case Of 13-Year-Old Girl With Prolidase Deficiency. ( 28718266 )
2017
3
Prolidase deficiency in two sisters with recurrent ulcerations of the lower extremities. ( 29058805 )
2017
4
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. ( 28062424 )
2017
5
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency. ( 27067078 )
2016
6
A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency. ( 26637345 )
2016
7
Pulmonary manifestations of prolidase deficiency. ( 27132891 )
2016
8
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. ( 27385964 )
2016
9
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. ( 25603535 )
2015
10
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION. ( 26349190 )
2015
11
A case of prolidase deficiency accompanying leg ulcers. ( 25691319 )
2015
12
Prolidase deficiency: dento-facial aspects in a paediatric patient. ( 25101509 )
2014
13
Prolidase deficiency: dento-facial aspects in a paediatric patient. ( 25299025 )
2014
14
Brain morphological defects in prolidase deficient mice: first report. ( 25308848 )
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
Different effects of sulfur amino acids on prolidase and prolinase activity in normal and prolidase-deficient human erythrocytes. ( 16899234 )
2007
31
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. ( 17570078 )
2007
32
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. ( 16681595 )
2006
33
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. ( 16470701 )
2006
34
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
35
Ulcus cruris associated with prolidase deficiency. ( 17459310 )
2006
36
Prolidase deficiency associated with hemoglobin O trait and microcytic anemia. ( 16863530 )
2006
37
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. ( 16434239 )
2006
38
Prolidase deficiency and the biochemical assays used in its diagnosis. ( 16298326 )
2006
39
[Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]. ( 17166065 )
2006
40
Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patients. ( 15653144 )
2005
41
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
42
Leg ulcers secondary to prolidase deficiency. ( 15632738 )
2004
43
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
44
Characteristics of prolinase against various iminodipeptides in erythrocyte lysates from a normal human and a patient with prolidase deficiency. ( 15552267 )
2004
45
Prolidase deficiency: case reports of two Argentinian brothers. ( 15357754 )
2004
46
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
47
Characteristics of prolidase from the erythrocytes of normal humans and patients with prolidase deficiency and their mother. ( 14580160 )
2003
48
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
49
Prolidase deficiency. ( 11895514 )
2002
50
Prolidase deficiency with hyperimmunoglobulin E: a case report. ( 12000488 )
2002

Variations for Prolidase Deficiency

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

75
# 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.826G> A (p.Asp276Asn) single nucleotide variant Pathogenic rs121917721 GRCh37 Chromosome 19, 33892768: 33892768
2 PEPD NM_000285.3(PEPD): c.826G> A (p.Asp276Asn) single nucleotide variant Pathogenic rs121917721 GRCh38 Chromosome 19, 33401862: 33401862
3 PEPD NM_000285.3(PEPD): c.1153_1344del192 (p.Gly385_Gly448del) deletion Pathogenic GRCh38 Chromosome 19, 33387843: 33388624
4 PEPD NM_000285.3(PEPD): c.1153_1344del192 (p.Gly385_Gly448del) deletion Pathogenic GRCh37 Chromosome 19, 33878749: 33879530
5 PEPD NM_000285.3(PEPD): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs121917722 GRCh37 Chromosome 19, 33954966: 33954966
6 PEPD NM_000285.3(PEPD): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs121917722 GRCh38 Chromosome 19, 33464060: 33464060
7 PEPD NM_000285.3(PEPD): c.833G> A (p.Gly278Asp) single nucleotide variant Pathogenic rs121917723 GRCh37 Chromosome 19, 33892761: 33892761
8 PEPD NM_000285.3(PEPD): c.833G> A (p.Gly278Asp) single nucleotide variant Pathogenic rs121917723 GRCh38 Chromosome 19, 33401855: 33401855
9 PEPD NM_000285.3(PEPD): c.1342G> A (p.Gly448Arg) single nucleotide variant Pathogenic rs121917724 GRCh37 Chromosome 19, 33878798: 33878798
10 PEPD NM_000285.3(PEPD): c.1342G> A (p.Gly448Arg) single nucleotide variant Pathogenic rs121917724 GRCh38 Chromosome 19, 33387892: 33387892
11 PEPD NM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del) deletion Pathogenic rs757386104 GRCh38 Chromosome 19, 33387465: 33387467
12 PEPD NM_000285.3(PEPD): c.1359_1361delGGA (p.Glu453del) deletion Pathogenic rs757386104 GRCh37 Chromosome 19, 33878371: 33878373
13 PEPD NM_000285.3(PEPD): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917725 GRCh37 Chromosome 19, 33902603: 33902603
14 PEPD NM_000285.3(PEPD): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs121917725 GRCh38 Chromosome 19, 33411697: 33411697
15 PEPD NM_000285.3(PEPD): c.1234G> A (p.Glu412Lys) single nucleotide variant Pathogenic rs267606944 GRCh37 Chromosome 19, 33878906: 33878906
16 PEPD NM_000285.3(PEPD): c.1234G> A (p.Glu412Lys) single nucleotide variant Pathogenic rs267606944 GRCh38 Chromosome 19, 33388000: 33388000
17 PEPD NM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs) duplication Pathogenic rs794728008 GRCh38 Chromosome 19, 33463988: 33464000
18 PEPD NM_000285.3(PEPD): c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs) duplication Pathogenic rs794728008 GRCh37 Chromosome 19, 33954894: 33954906
19 PEPD NM_000285.3(PEPD): c.605C> T (p.Ser202Phe) single nucleotide variant Pathogenic rs267606943 GRCh37 Chromosome 19, 33954912: 33954912
20 PEPD NM_000285.3(PEPD): c.605C> T (p.Ser202Phe) single nucleotide variant Pathogenic rs267606943 GRCh38 Chromosome 19, 33464006: 33464006
21 PEPD NM_000285.3(PEPD): c.1103T> G (p.Leu368Arg) single nucleotide variant Pathogenic rs797045185 GRCh38 Chromosome 19, 33391344: 33391344
22 PEPD NM_000285.3(PEPD): c.1103T> G (p.Leu368Arg) single nucleotide variant Pathogenic rs797045185 GRCh37 Chromosome 19, 33882250: 33882250
23 PEPD NM_000285.3(PEPD): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs747700126 GRCh38 Chromosome 19, 33463032: 33463032
24 PEPD NM_000285.3(PEPD): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs747700126 GRCh37 Chromosome 19, 33953938: 33953938
25 PEPD NM_000285.3(PEPD): c.*336_*339dupTTCT duplication Uncertain significance rs886054332 GRCh37 Chromosome 19, 33877911: 33877914
26 PEPD NM_000285.3(PEPD): c.*336_*339dupTTCT duplication Uncertain significance rs886054332 GRCh38 Chromosome 19, 33387005: 33387008
27 PEPD NM_000285.3(PEPD): c.*155G> A single nucleotide variant Uncertain significance rs565481482 GRCh38 Chromosome 19, 33387189: 33387189
28 PEPD NM_000285.3(PEPD): c.*155G> A single nucleotide variant Uncertain significance rs565481482 GRCh37 Chromosome 19, 33878095: 33878095
29 PEPD NM_000285.3(PEPD): c.1329T> C (p.Phe443=) single nucleotide variant Uncertain significance rs2230063 GRCh38 Chromosome 19, 33387905: 33387905
30 PEPD NM_000285.3(PEPD): c.1329T> C (p.Phe443=) single nucleotide variant Uncertain significance rs2230063 GRCh37 Chromosome 19, 33878811: 33878811
31 PEPD NM_000285.3(PEPD): c.1163G> A (p.Arg388His) single nucleotide variant Likely benign rs2230062 GRCh37 Chromosome 19, 33878977: 33878977
32 PEPD NM_000285.3(PEPD): c.1163G> A (p.Arg388His) single nucleotide variant Likely benign rs2230062 GRCh38 Chromosome 19, 33388071: 33388071
33 PEPD NM_000285.3(PEPD): c.1098C> T (p.His366=) single nucleotide variant Uncertain significance rs149579451 GRCh37 Chromosome 19, 33882255: 33882255
34 PEPD NM_000285.3(PEPD): c.1098C> T (p.His366=) single nucleotide variant Uncertain significance rs149579451 GRCh38 Chromosome 19, 33391349: 33391349
35 PEPD NM_000285.3(PEPD): c.946G> A (p.Val316Ile) single nucleotide variant Uncertain significance rs370219399 GRCh37 Chromosome 19, 33892648: 33892648
36 PEPD NM_000285.3(PEPD): c.946G> A (p.Val316Ile) single nucleotide variant Uncertain significance rs370219399 GRCh38 Chromosome 19, 33401742: 33401742
37 PEPD NM_000285.3(PEPD): c.834C> T (p.Gly278=) single nucleotide variant Uncertain significance rs371699300 GRCh38 Chromosome 19, 33401854: 33401854
38 PEPD NM_000285.3(PEPD): c.834C> T (p.Gly278=) single nucleotide variant Uncertain significance rs371699300 GRCh37 Chromosome 19, 33892760: 33892760
39 PEPD NM_000285.3(PEPD): c.819-4G> A single nucleotide variant Uncertain significance rs370100218 GRCh38 Chromosome 19, 33401873: 33401873
40 PEPD NM_000285.3(PEPD): c.819-4G> A single nucleotide variant Uncertain significance rs370100218 GRCh37 Chromosome 19, 33892779: 33892779
41 PEPD NM_000285.3(PEPD): c.692_694delACT (p.Tyr231del) deletion Uncertain significance rs745834191 GRCh38 Chromosome 19, 33413621: 33413623
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.1309C> T (p.Arg437Cys) single nucleotide variant Uncertain significance rs376372688 GRCh37 Chromosome 19, 33878831: 33878831
50 PEPD NM_000285.3(PEPD): c.1309C> T (p.Arg437Cys) single nucleotide variant Uncertain significance rs376372688 GRCh38 Chromosome 19, 33387925: 33387925

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....