PD
MCID: PRL019
MIFTS: 50

Prolidase Deficiency (PD)

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

Aliases & Classifications for Prolidase Deficiency

MalaCards integrated aliases for Prolidase Deficiency:

Name: Prolidase Deficiency 57 12 73 25 20 43 58 72 36 29 13 6 44 15 39
Hyperimidodipeptiduria 12 20 43 58
Imidodipeptidase Deficiency 12 20 43
Peptidase Deficiency 12 20 43
Pd 20 43 72
Deficiency of Prolidase 70

Characteristics:

Orphanet epidemiological data:

58
prolidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
median age at diagnosis 7 years
highly variable expression


HPO:

31
prolidase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Prolidase Deficiency

MedlinePlus Genetics : 43 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.Characteristic facial features in people with prolidase deficiency include prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia). Affected children may experience delayed development, and about 75 percent of people with prolidase deficiency have intellectual disability that may range from mild to severe.People with prolidase deficiency often develop skin lesions, especially on their hands, feet, lower legs, and face. The severity of the skin involvement, which usually begins during childhood, may range from a mild rash to severe skin ulcers. Skin ulcers, especially on the legs, may not heal completely, resulting in complications including infection and amputation.The severity of symptoms in prolidase deficiency varies greatly among affected individuals. Some people with this disorder do not have any symptoms. In these individuals the condition can be detected by laboratory tests such as newborn screening tests or tests offered to relatives of affected individuals.

MalaCards based summary : Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to autosomal recessive disease and paroxysmal extreme pain disorder, and has symptoms including petechiae of skin An important gene associated with Prolidase Deficiency is PEPD (Peptidase D), and among its related pathways/superpathways is Arginine and proline metabolism. Affiliated tissues include skin, spleen and liver, and related phenotypes are hearing impairment and depressed nasal bridge

Disease Ontology : 12 An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has material basis in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11.

GARD : 20 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.

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, 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) (Updated 20-May-2021)

KEGG : 36 Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen metabolism and in the terminal degradation of endogenous and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing the reduction or the loss of prolidase activity are responsible for PD.

UniProtKB/Swiss-Prot : 72 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 : 73 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 73)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.5
2 paroxysmal extreme pain disorder 10.5
3 splenomegaly 10.5
4 mucocutaneous ulceration, chronic 10.3
5 lupus erythematosus 10.2
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
8 systemic lupus erythematosus 10.2
9 lung disease 10.1
10 erythrokeratoderma ''en cocardes'' 10.1
11 hyperprolinemia, type i 10.1 PRODH PEPD
12 respiratory papillomatosis, juvenile recurrent, congenital 10.0
13 exanthem 10.0
14 inflammatory bowel disease 10.0
15 hereditary lymphedema i 10.0
16 microcytic anemia 10.0
17 thrombocytopenia 10.0
18 connective tissue disease 10.0
19 crohn's disease 10.0
20 rare genetic skin disease 10.0
21 aicardi-goutieres syndrome 1 10.0 RNASEH2B RNASEH2A
22 immunodeficiency 38 with basal ganglia calcification 9.9 RNASEH2C RNASEH2B RNASEH2A
23 basal ganglia calcification 9.9 RNASEH2C RNASEH2B RNASEH2A
24 amino acid metabolic disorder 9.9 PRODH PEPD
25 visual cortex disease 9.9 RNASEH2C RNASEH2B RNASEH2A
26 visual pathway disease 9.9 RNASEH2C RNASEH2B RNASEH2A
27 dyschromatosis symmetrica hereditaria 9.9 RNASEH2C RNASEH2B RNASEH2A
28 basal ganglia disease 9.9 RNASEH2C RNASEH2B RNASEH2A
29 cardiac conduction defect 9.9
30 fibrosis of extraocular muscles, congenital, 1 9.9
31 otitis media 9.9
32 cystic fibrosis 9.9
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
34 c1q deficiency 9.9
35 deficiency anemia 9.9
36 hypochromic microcytic anemia 9.9
37 crohn's colitis 9.9
38 hyper ige syndrome 9.9
39 microcephaly 9.9
40 respiratory failure 9.9
41 hypoparathyroidism 9.9
42 myopia 9.9
43 hypertrophic cardiomyopathy 9.9
44 telangiectasis 9.9
45 diarrhea 9.9
46 toxic shock syndrome 9.9
47 panniculitis 9.9
48 cystitis 9.9
49 melanoma 9.9
50 connective tissue cancer 9.9

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:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 depressed nasal bridge 58 31 very rare (1%) Very frequent (99-80%) HP:0005280
3 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
5 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
6 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
7 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
8 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
9 skin ulcer 58 31 very rare (1%) Very frequent (99-80%) HP:0200042
10 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
11 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
12 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
13 abnormality of the middle ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000370
14 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
15 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
16 crusting erythematous dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007473
17 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
18 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
19 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
20 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
21 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
22 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
23 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
24 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
25 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
26 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
27 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
28 white forelock 58 31 frequent (33%) Frequent (79-30%) HP:0002211
29 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
30 splenomegaly 58 31 very rare (1%) Occasional (29-5%) HP:0001744
31 hepatomegaly 58 31 very rare (1%) Occasional (29-5%) HP:0002240
32 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
33 hypoplasia of the zygomatic bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0010669
34 proptosis 58 31 very rare (1%) Occasional (29-5%) HP:0000520
35 recurrent cystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012786
36 failure to thrive 31 very rare (1%) HP:0001508
37 prominent forehead 31 very rare (1%) HP:0011220
38 anemia 31 very rare (1%) HP:0001903
39 thrombocytopenia 31 very rare (1%) HP:0001873
40 asthma 31 very rare (1%) HP:0002099
41 eczema 31 very rare (1%) HP:0000964
42 petechiae 31 very rare (1%) HP:0000967
43 prolonged neonatal jaundice 31 very rare (1%) HP:0006579
44 mild global developmental delay 31 very rare (1%) HP:0011342
45 systemic lupus erythematosus 31 very rare (1%) HP:0002725
46 elevated serum aspartate aminotransferase 31 very rare (1%) HP:0031956
47 increased circulating antibody level 31 very rare (1%) HP:0010702
48 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
49 ptosis 31 HP:0000508
50 high palate 31 HP:0000218

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
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

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

Abdomen Spleen:
splenomegaly

Head And Neck Face:
prominent forehead
facial dysmorphism

Skin Nails Hair Hair:
low posterior hairline

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

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

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

Clinical features from OMIM®:

170100 (Updated 20-May-2021)

UMLS symptoms related to Prolidase Deficiency:


petechiae of skin

Drugs & Therapeutics for Prolidase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serum Prolidase Enzyme Activity as a Diagnostic Marker for Acute Ischemic Stroke 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:

40
Skin, Spleen, Liver, Bone, Lung, Cortex, Spinal Cord

Publications for Prolidase Deficiency

Articles related to Prolidase Deficiency:

(show top 50) (show all 218)
# Title Authors PMID Year
1
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. 25 57 6 61
19308961 2010
2
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 6 57 25 61
16470701 2006
3
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. 57 6 25 61
1688567 1990
4
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. 57 6 61
12384772 2002
5
Expression and molecular analysis of mutations in prolidase deficiency. 6 57 61
8900231 1996
6
Four novel PEPD alleles causing prolidase deficiency. 61 57 6
8198124 1994
7
Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. 6 57 61
1972707 1990
8
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations. 61 25 57
18340504 2008
9
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. 25 6 61
17142620 2006
10
Prolidase deficiency and the biochemical assays used in its diagnosis. 61 57 25
16298326 2006
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. 61 6 25
15309682 2004
12
Prolidase deficiency and systemic lupus erythematosus. 25 57 61
9196362 1997
13
Prolidase deficiency: a case report and literature review. 61 25 57
2679858 1989
14
Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine. 25 57 61
3139928 1988
15
Clinical and biochemical characteristics of prolidase deficiency in siblings. 25 57 61
6507502 1984
16
Prolidase deficiency. 6 25 61
6637477 1983
17
Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiency. 61 57 25
908977 1977
18
Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids. 57 25 61
874681 1977
19
A prolidase deficiency in man with iminopeptiduria. 57 25 61
4828441 1974
20
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. 61 6
28062424 2017
21
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. 61 6
23516557 2013
22
Blood transfusions in the therapy of a case of prolidase deficiency. 61 57
1536787 1992
23
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. 6 61
2010534 1991
24
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. 61 6
2365824 1990
25
Prolidase deficiency: biochemical classification of alleles. 57 61
2705457 1989
26
In situ activation of human erythrocyte prolidase: potential for enzyme replacement therapy in prolidase deficiency. 61 57
3205627 1988
27
Biochemical studies on prolidase in sera from control, patients with prolidase deficiency and their mother. 61 57
3139929 1988
28
Immunochemical studies of human prolidase with monoclonal and polyclonal antibodies: absence of the subunit of prolidase in erythrocytes from a patient with prolidase deficiency. 57 61
3324031 1987
29
Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects. 57 61
3827281 1987
30
Prolidase and prolidase deficiency. 57 61
6727550 1984
31
Prolidase deficiency: an inborn error of metabolism with major dermatological manifestations. 57 61
7095220 1982
32
Lack of prolidase causes a bone phenotype both in human and in mouse. 25 61
25460580 2015
33
Massive splenomegaly secondary to prolidase deficiency. 61 25
23811574 2015
34
Prolidase deficiency: dento-facial aspects in a paediatric patient. 25 61
25101509 2014
35
Prolidase deficiency breaks tolerance to lupus-associated antigens. 61 25
24330273 2013
36
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. 25 61
22726576 2012
37
A photographic essay of prolidase deficiency. 61 25
21760498 2011
38
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. 25 61
19937054 2010
39
Prolidase deficiency: a rare aetiology of arthritis. 61 25
20031465 2010
40
[Prolidase deficiency with various clinical conditions including hyper-IgE and multiple lung bulla formation]. 25 61
19227921 2009
41
Population screening in a Druze community: the challenge and the reward. 25 61
19092443 2008
42
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. 61 25
17570078 2007
43
Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. 61 25
17517257 2007
44
Ulcus cruris associated with prolidase deficiency. 25 61
17459310 2006
45
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. 25 61
16681595 2006
46
The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach. 61 25
16434239 2006
47
Intracellular delivery of liposome-encapsulated prolidase in cultured fibroblasts from prolidase-deficient patients. 61 25
15653144 2005
48
Prolidase deficiency: case reports of two Argentinian brothers. 61 25
15357754 2004
49
Prolidase deficiency with hyperimmunoglobulin E: a case report. 25 61
12000488 2002
50
Mild, late-onset prolidase deficiency: another Italian case. 61 25
11260036 2001

Variations for Prolidase Deficiency

ClinVar genetic disease variations for Prolidase Deficiency:

6 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEPD NM_000285.4(PEPD):c.1356_1358GGA[1] (p.Glu453del) Microsatellite Pathogenic 214 rs757386104 GRCh37: 19:33878371-33878373
GRCh38: 19:33387465-33387467
2 PEPD NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys) SNV Pathogenic 216 rs267606944 GRCh37: 19:33878906-33878906
GRCh38: 19:33388000-33388000
3 PEPD NM_000285.4(PEPD):c.611_623dup (p.Val209_Met210insGlyProProTer) Duplication Pathogenic 217 rs794728008 GRCh37: 19:33954893-33954894
GRCh38: 19:33463987-33463988
4 PEPD NM_000285.4(PEPD):c.826G>A (p.Asp276Asn) SNV Pathogenic 208 rs121917721 GRCh37: 19:33892768-33892768
GRCh38: 19:33401862-33401862
5 PEPD NM_000285.4(PEPD):c.551G>A (p.Arg184Gln) SNV Pathogenic 211 rs121917722 GRCh37: 19:33954966-33954966
GRCh38: 19:33464060-33464060
6 PEPD NM_000285.4(PEPD):c.549-1G>A SNV Pathogenic 807649 rs1204749077 GRCh37: 19:33954969-33954969
GRCh38: 19:33464063-33464063
7 PEPD NM_000285.4(PEPD):c.540del (p.Ile180fs) Deletion Pathogenic 807650 rs1600147235 GRCh37: 19:33968960-33968960
GRCh38: 19:33478054-33478054
8 PEPD NM_000285.3(PEPD):c.1153_1344del (p.Gly385_Gly448del) Deletion Pathogenic 209 GRCh37: 19:33878749-33879530
GRCh38: 19:33387843-33388624
9 PEPD NM_000285.4(PEPD):c.793C>T (p.Arg265Ter) SNV Pathogenic 215 rs121917725 GRCh37: 19:33902603-33902603
GRCh38: 19:33411697-33411697
10 PEPD NM_000285.4(PEPD):c.605C>T (p.Ser202Phe) SNV Pathogenic 218 rs267606943 GRCh37: 19:33954912-33954912
GRCh38: 19:33464006-33464006
11 PEPD NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg) SNV Pathogenic 209998 rs797045185 GRCh37: 19:33882250-33882250
GRCh38: 19:33391344-33391344
12 PEPD NM_000285.4(PEPD):c.634G>C (p.Ala212Pro) SNV Pathogenic 209997 rs747700126 GRCh37: 19:33953938-33953938
GRCh38: 19:33463032-33463032
13 PEPD NM_000285.4(PEPD):c.441+1G>A SNV Pathogenic 1028670 GRCh37: 19:33984195-33984195
GRCh38: 19:33493289-33493289
14 PEPD NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) SNV Pathogenic/Likely pathogenic 213 rs121917724 GRCh37: 19:33878798-33878798
GRCh38: 19:33387892-33387892
15 PEPD NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) SNV Likely pathogenic 212 rs121917723 GRCh37: 19:33892761-33892761
GRCh38: 19:33401855-33401855
16 PEPD NM_000285.4(PEPD):c.692_694del (p.Tyr231del) Deletion Likely pathogenic 328810 rs745834191 GRCh37: 19:33904527-33904529
GRCh38: 19:33413621-33413623
17 PEPD NM_000285.4(PEPD):c.504-1G>A SNV Likely pathogenic 804428 rs542228812 GRCh37: 19:33968997-33968997
GRCh38: 19:33478091-33478091
18 PEPD NM_000285.4(PEPD):c.1079G>A (p.Gly360Glu) SNV Uncertain significance 889198 GRCh37: 19:33882274-33882274
GRCh38: 19:33391368-33391368
19 PEPD NM_000285.4(PEPD):c.*127T>C SNV Uncertain significance 889119 GRCh37: 19:33878123-33878123
GRCh38: 19:33387217-33387217
20 PEPD NM_000285.4(PEPD):c.*96G>A SNV Uncertain significance 889120 GRCh37: 19:33878154-33878154
GRCh38: 19:33387248-33387248
21 PEPD NM_000285.4(PEPD):c.1414G>A (p.Val472Met) SNV Uncertain significance 889121 GRCh37: 19:33878318-33878318
GRCh38: 19:33387412-33387412
22 PEPD NM_000285.4(PEPD):c.751T>A (p.Ser251Thr) SNV Uncertain significance 328807 rs201572375 GRCh37: 19:33902645-33902645
GRCh38: 19:33411739-33411739
23 PEPD NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys) SNV Uncertain significance 328790 rs376372688 GRCh37: 19:33878831-33878831
GRCh38: 19:33387925-33387925
24 PEPD NM_000285.4(PEPD):c.462C>T (p.Ser154=) SNV Uncertain significance 328816 rs375631938 GRCh37: 19:33980943-33980943
GRCh38: 19:33490037-33490037
25 PEPD NM_000285.4(PEPD):c.1365C>T (p.Val455=) SNV Uncertain significance 328785 rs778506447 GRCh37: 19:33878367-33878367
GRCh38: 19:33387461-33387461
26 PEPD NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser) SNV Uncertain significance 328802 rs765974570 GRCh37: 19:33882308-33882308
GRCh38: 19:33391402-33391402
27 PEPD NM_000285.3(PEPD):c.-130T>C SNV Uncertain significance 328828 rs886054338 GRCh37: 19:34012796-34012796
GRCh38: 19:33521890-33521890
28 PEPD NM_000285.4(PEPD):c.*40T>A SNV Uncertain significance 328782 rs375067721 GRCh37: 19:33878210-33878210
GRCh38: 19:33387304-33387304
29 PEPD NM_000285.3(PEPD):c.-61A>G SNV Uncertain significance 328827 rs886054337 GRCh37: 19:34012727-34012727
GRCh38: 19:33521821-33521821
30 PEPD NM_000285.4(PEPD):c.624+15G>A SNV Uncertain significance 328813 rs538519269 GRCh37: 19:33954878-33954878
GRCh38: 19:33463972-33463972
31 PEPD NM_000285.4(PEPD):c.1291C>T (p.Arg431Cys) SNV Uncertain significance 328793 rs751121493 GRCh37: 19:33878849-33878849
GRCh38: 19:33387943-33387943
32 PEPD NM_000285.4(PEPD):c.*155G>A SNV Uncertain significance 328779 rs565481482 GRCh37: 19:33878095-33878095
GRCh38: 19:33387189-33387189
33 PEPD NM_000285.4(PEPD):c.447C>T (p.Gly149=) SNV Uncertain significance 328819 rs375023206 GRCh37: 19:33980958-33980958
GRCh38: 19:33490052-33490052
34 PEPD NM_000285.4(PEPD):c.967+10G>A SNV Uncertain significance 328803 rs372949783 GRCh37: 19:33892617-33892617
GRCh38: 19:33401711-33401711
35 PEPD NM_000285.4(PEPD):c.1156G>A (p.Val386Met) SNV Uncertain significance 328797 rs886054334 GRCh37: 19:33878984-33878984
GRCh38: 19:33388078-33388078
36 PEPD NM_000285.4(PEPD):c.-30C>G SNV Uncertain significance 328825 rs773055268 GRCh37: 19:34012696-34012696
GRCh38: 19:33521790-33521790
37 PEPD NM_000285.4(PEPD):c.834C>T (p.Gly278=) SNV Uncertain significance 328805 rs371699300 GRCh37: 19:33892760-33892760
GRCh38: 19:33401854-33401854
38 PEPD NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) SNV Uncertain significance 328822 rs201865747 GRCh37: 19:34002004-34002004
GRCh38: 19:33511098-33511098
39 PEPD NM_000285.4(PEPD):c.672-9C>G SNV Uncertain significance 328811 rs886054336 GRCh37: 19:33904558-33904558
GRCh38: 19:33413652-33413652
40 PEPD NM_000285.4(PEPD):c.1281G>A (p.Ala427=) SNV Uncertain significance 328794 rs183038027 GRCh37: 19:33878859-33878859
GRCh38: 19:33387953-33387953
41 PEPD NM_000285.4(PEPD):c.-1C>T SNV Uncertain significance 328823 rs757625583 GRCh37: 19:34012667-34012667
GRCh38: 19:33521761-33521761
42 PEPD NM_000285.4(PEPD):c.427G>A (p.Val143Ile) SNV Uncertain significance 328820 rs760506591 GRCh37: 19:33984210-33984210
GRCh38: 19:33493304-33493304
43 PEPD NM_000285.4(PEPD):c.1345-11G>C SNV Uncertain significance 328786 rs374919986 GRCh37: 19:33878398-33878398
GRCh38: 19:33387492-33387492
44 PEPD NM_000285.4(PEPD):c.710G>A (p.Arg237His) SNV Uncertain significance 328809 rs577079343 GRCh37: 19:33904511-33904511
GRCh38: 19:33413605-33413605
45 PEPD NM_000285.3(PEPD):c.-38T>C SNV Uncertain significance 328826 rs752051747 GRCh37: 19:34012704-34012704
GRCh38: 19:33521798-33521798
46 PEPD NM_000285.4(PEPD):c.1311C>T (p.Arg437=) SNV Uncertain significance 328789 rs369197590 GRCh37: 19:33878829-33878829
GRCh38: 19:33387923-33387923
47 PEPD NM_000285.4(PEPD):c.819-4G>A SNV Uncertain significance 328806 rs370100218 GRCh37: 19:33892779-33892779
GRCh38: 19:33401873-33401873
48 PEPD NM_000285.4(PEPD):c.492C>T (p.Asp164=) SNV Uncertain significance 328815 rs370105932 GRCh37: 19:33980913-33980913
GRCh38: 19:33490007-33490007
49 PEPD NM_000285.4(PEPD):c.448G>A (p.Val150Ile) SNV Uncertain significance 328818 rs755007246 GRCh37: 19:33980957-33980957
GRCh38: 19:33490051-33490051
50 PEPD NM_000285.4(PEPD):c.1153-6C>T SNV Uncertain significance 328798 rs886054335 GRCh37: 19:33878993-33878993
GRCh38: 19:33388087-33388087

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

72
# 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

Expression for Prolidase Deficiency

Search GEO for disease gene expression data for Prolidase Deficiency.

Pathways for Prolidase Deficiency

Pathways related to Prolidase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.39 PRODH LAP3

GO Terms for Prolidase Deficiency

Cellular components related to Prolidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Prolidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA catabolic process GO:0006401 8.8 RNASEH2C RNASEH2B RNASEH2A

Molecular functions related to Prolidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.92 ZNF599 ZNF30 ZNF181 WTIP RNASEH2A PEPD
2 manganese ion binding GO:0030145 9.37 PEPD LAP3
3 metalloaminopeptidase activity GO:0070006 9.26 PEPD LAP3
4 dipeptidase activity GO:0016805 9.16 PEPD DPEP2
5 RNA-DNA hybrid ribonuclease activity GO:0004523 8.96 RNASEH2B RNASEH2A
6 metalloexopeptidase activity GO:0008235 8.62 LAP3 DPEP2

Sources for Prolidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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