PD
MCID: PRL019
MIFTS: 47

Prolidase Deficiency (PD)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Prolidase Deficiency

MalaCards integrated aliases for Prolidase Deficiency:

Name: Prolidase Deficiency 57 11 24 19 42 58 75 73 28 12 5 43 14 38 33
Hyperimidodipeptiduria 11 19 42 58 33
Imidodipeptidase Deficiency 11 19 42
Peptidase Deficiency 11 19 42
Pd 19 42 73
Proline Dipeptidase Deficiency 33
Deficiency of Prolidase 71
Imidodipeptiduria 33

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Canada) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
median age at diagnosis 7 years
highly variable expression


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: 42 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 paroxysmal extreme pain disorder and splenomegaly, and has symptoms including petechiae of skin An important gene associated with Prolidase Deficiency is PEPD (Peptidase D). Affiliated tissues include skin, spleen and liver, and related phenotypes are hearing impairment and depressed nasal bridge

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 08-Dec-2022)

GARD: 19 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 genetic changes in the PEPD gene. It is inherited in an autosomal recessive pattern.

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

Wikipedia: 75 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 84)
# Related Disease Score Top Affiliating Genes
1 paroxysmal extreme pain disorder 10.5
2 splenomegaly 10.5
3 systemic lupus erythematosus 10.3
4 lupus erythematosus 10.3
5 skin disease 10.3
6 connective tissue disease 10.2
7 erythrokeratoderma ''en cocardes'' 10.2
8 systemic lupus erythematosus 1 10.2
9 congenital muscular dystrophy-dystroglycanopathy type a5 10.1 ZNF181 SCGB2B2
10 hypoascorbemia 10.0
11 inflammatory bowel disease 1 10.0
12 hemophagocytic lymphohistiocytosis, familial, 1 10.0
13 hemophagocytic lymphohistiocytosis 10.0
14 exanthem 10.0
15 inflammatory bowel disease 10.0
16 hereditary lymphedema i 10.0
17 hyper ige syndrome 10.0
18 respiratory failure 10.0
19 microcytic anemia 10.0
20 telangiectasis 10.0
21 diarrhea 10.0
22 thrombocytopenia 10.0
23 dermatitis 10.0
24 lung disease 10.0
25 vasculitis 10.0
26 crohn's disease 10.0
27 bowel dysfunction 10.0
28 rare genetic skin disease 10.0
29 urea cycle disorder 10.0 PRODH OAT
30 argininemia 10.0 PRODH OAT
31 hyperprolinemia, type i 9.9 PRODH PEPD OAT
32 celiac disease 1 9.9
33 gm1-gangliosidosis, type iii 9.9 ZNF302 ZNF181
34 gyrate atrophy of choroid and retina 9.9 PRODH OAT
35 cardiac conduction defect 9.9
36 photoparoxysmal response 1 9.9
37 ige responsiveness, atopic 9.9
38 mastocytosis, cutaneous 9.9
39 otitis media 9.9
40 cardiomyopathy, familial hypertrophic, 1 9.9
41 anemia, hypochromic microcytic, with iron overload 1 9.9
42 cystic fibrosis 9.9
43 ataxia with vitamin e deficiency 9.9
44 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
45 abdominal obesity-metabolic syndrome 1 9.9
46 c1q deficiency 9.9
47 deficiency anemia 9.9
48 hypochromic microcytic anemia 9.9
49 metabolic acidosis 9.9
50 microcephaly 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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
2 depressed nasal bridge 58 30 Very rare (1%) Very frequent (99-80%)
HP:0005280
3 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002205
4 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
5 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001999
6 palmoplantar keratoderma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000982
7 dry skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000958
8 skin ulcer 58 30 Very rare (1%) Very frequent (99-80%)
HP:0200042
9 erythema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010783
10 cutaneous photosensitivity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000992
11 papule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200034
12 abnormality of the middle ear 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000370
13 pruritus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000989
14 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000963
15 crusting erythematous dermatitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007473
16 abnormal hip bone morphology 30 Hallmark (90%) HP:0003272
17 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000316
18 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
19 abnormality of retinal pigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007703
20 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
21 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
22 abnormal fingernail morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001231
23 arachnodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001166
24 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000457
25 bilateral single transverse palmar creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0007598
26 low anterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0000294
27 generalized hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002230
28 white forelock 58 30 Frequent (33%) Frequent (79-30%)
HP:0002211
29 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
30 splenomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0001744
31 hepatomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0002240
32 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
33 hypoplasia of the zygomatic bone 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010669
34 proptosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0000520
35 recurrent cystitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012786
36 failure to thrive 30 Very rare (1%) HP:0001508
37 prominent forehead 30 Very rare (1%) HP:0011220
38 anemia 30 Very rare (1%) HP:0001903
39 thrombocytopenia 30 Very rare (1%) HP:0001873
40 asthma 30 Very rare (1%) HP:0002099
41 eczema 30 Very rare (1%) HP:0000964
42 petechiae 30 Very rare (1%) HP:0000967
43 prolonged neonatal jaundice 30 Very rare (1%) HP:0006579
44 mild global developmental delay 30 Very rare (1%) HP:0011342
45 systemic lupus erythematosus 30 Very rare (1%) HP:0002725
46 increased circulating antibody level 30 Very rare (1%) HP:0010702
47 febrile seizure (within the age range of 3 months to 6 years) 30 Very rare (1%) HP:0002373
48 elevated circulating aspartate aminotransferase concentration 30 Very rare (1%) HP:0031956
49 ptosis 30 HP:0000508
50 high palate 30 HP:0000218

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 PEPD

Anatomical Context for Prolidase Deficiency

Organs/tissues related to Prolidase Deficiency:

MalaCards : Skin, Spleen, Liver, Lung, Bone, Bone Marrow, Neutrophil
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

Publications for Prolidase Deficiency

Articles related to Prolidase Deficiency:

(show top 50) (show all 233)
# 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. 62 24 57 5
19308961 2010
2
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 62 24 57 5
16470701 2006
3
Expression and molecular analysis of mutations in prolidase deficiency. 62 24 57 5
8900231 1996
4
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. 62 57 5
12384772 2002
5
Four novel PEPD alleles causing prolidase deficiency. 62 57 5
8198124 1994
6
Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. 62 57 5
1972707 1990
7
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. 62 57 5
1688567 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. 62 24 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. 62 24 5
17142620 2006
10
Prolidase deficiency and the biochemical assays used in its diagnosis. 62 24 57
16298326 2006
11
Prolidase deficiency and systemic lupus erythematosus. 62 24 57
9196362 1997
12
Clinical and biochemical characteristics of prolidase deficiency in siblings. 62 24 57
6507502 1984
13
Prolidase deficiency. 62 24 5
6637477 1983
14
Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiency. 62 24 57
908977 1977
15
Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids. 62 24 57
874681 1977
16
A prolidase deficiency in man with iminopeptiduria. 62 24 57
4828441 1974
17
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. 62 5
28062424 2017
18
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. 62 5
23516557 2013
19
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. 62 5
15309682 2004
20
Blood transfusions in the therapy of a case of prolidase deficiency. 62 57
1536787 1992
21
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. 62 5
2010534 1991
22
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. 62 5
2365824 1990
23
Prolidase deficiency: a case report and literature review. 62 57
2679858 1989
24
Prolidase deficiency: biochemical classification of alleles. 62 57
2705457 1989
25
In situ activation of human erythrocyte prolidase: potential for enzyme replacement therapy in prolidase deficiency. 62 57
3205627 1988
26
Biochemical studies on prolidase in sera from control, patients with prolidase deficiency and their mother. 62 57
3139929 1988
27
Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine. 62 57
3139928 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. 62 57
3324031 1987
29
Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects. 62 57
3827281 1987
30
Prolidase and prolidase deficiency. 62 57
6727550 1984
31
Prolidase deficiency: an inborn error of metabolism with major dermatological manifestations. 62 57
7095220 1982
32
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly. 62 24
35015843 2022
33
Macrophage Activation Syndrome in a Patient with Prolidase Deficiency: a Rare Genetic Disorder Associated with Elevated IgE and Lupus-Like Syndrome. 62 24
34263393 2021
34
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. 62 24
34040193 2021
35
Refractory leg ulcers in prolidase deficiency with antiphospholipid antibody positivity responding to aspirin-hydroxychloroquine-vitamin C combination therapy. 62 24
32927500 2020
36
Induction therapy with rituximab for lupus nephritis due to prolidase deficiency. 62 24
32107546 2020
37
Clinical Genetics of Prolidase Deficiency: An Updated Review. 62 24
32455636 2020
38
Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult. 62 24
31980489 2020
39
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis. 62 24
31041317 2019
40
Topical proline therapy in prolidase deficiency. 62 24
29943458 2019
41
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. 62 24
27385964 2016
42
Lack of prolidase causes a bone phenotype both in human and in mouse. 62 24
25460580 2015
43
Massive splenomegaly secondary to prolidase deficiency. 62 24
23811574 2015
44
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION. 62 24
26349190 2015
45
Prolidase deficiency: dento-facial aspects in a paediatric patient. 62 24
25101509 2014
46
Prolidase deficiency breaks tolerance to lupus-associated antigens. 62 24
24330273 2013
47
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review. 62 24
22726576 2012
48
A photographic essay of prolidase deficiency. 62 24
21760498 2011
49
Prolidase deficiency: a rare aetiology of arthritis. 62 24
20031465 2010
50
Population screening in a Druze community: the challenge and the reward. 62 24
19092443 2008

Variations for Prolidase Deficiency

ClinVar genetic disease variations for Prolidase Deficiency:

5 (show top 50) (show all 99)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEPD NM_000285.4(PEPD):c.549-1G>A SNV Pathogenic
807649 rs1204749077 GRCh37: 19:33954969-33954969
GRCh38: 19:33464063-33464063
2 PEPD NM_000285.4(PEPD):c.540del (p.Ile180fs) DEL Pathogenic
807650 rs1600147235 GRCh37: 19:33968960-33968960
GRCh38: 19:33478054-33478054
3 PEPD NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys) SNV Pathogenic
216 rs267606944 GRCh37: 19:33878906-33878906
GRCh38: 19:33388000-33388000
4 PEPD NM_000285.4(PEPD):c.551G>A (p.Arg184Gln) SNV Pathogenic
211 rs121917722 GRCh37: 19:33954966-33954966
GRCh38: 19:33464060-33464060
5 PEPD NM_000285.4(PEPD):c.826G>A (p.Asp276Asn) SNV Pathogenic
208 rs121917721 GRCh37: 19:33892768-33892768
GRCh38: 19:33401862-33401862
6 PEPD NM_000285.4(PEPD):c.2T>G (p.Met1Arg) SNV Pathogenic
1299535 GRCh37: 19:34012665-34012665
GRCh38: 19:33521759-33521759
7 PEPD NM_000285.4(PEPD):c.549-1G>T SNV Pathogenic
1299536 GRCh37: 19:33954969-33954969
GRCh38: 19:33464063-33464063
8 PEPD NM_000285.4(PEPD):c.611_623dup (p.Glu208_Val209insGlyProProTer) DUP Pathogenic
217 rs794728008 GRCh37: 19:33954893-33954894
GRCh38: 19:33463987-33463988
9 PEPD NM_000285.4(PEPD):c.1356GGA[1] (p.Glu453del) MICROSAT Pathogenic
214 rs757386104 GRCh37: 19:33878371-33878373
GRCh38: 19:33387465-33387467
10 PEPD NM_000285.3(PEPD):c.1153_1344del (p.Gly385_Gly448del) DEL Pathogenic
209 GRCh37: 19:33878749-33879530
GRCh38: 19:33387843-33388624
11 PEPD NM_000285.4(PEPD):c.793C>T (p.Arg265Ter) SNV Pathogenic
215 rs121917725 GRCh37: 19:33902603-33902603
GRCh38: 19:33411697-33411697
12 PEPD NM_000285.4(PEPD):c.605C>T (p.Ser202Phe) SNV Pathogenic
218 rs267606943 GRCh37: 19:33954912-33954912
GRCh38: 19:33464006-33464006
13 PEPD NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) SNV Pathogenic/Likely Pathogenic
213 rs121917724 GRCh37: 19:33878798-33878798
GRCh38: 19:33387892-33387892
14 PEPD NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) SNV Likely Pathogenic
212 rs121917723 GRCh37: 19:33892761-33892761
GRCh38: 19:33401855-33401855
15 PEPD NM_000285.4(PEPD):c.418A>T (p.Lys140Ter) SNV Likely Pathogenic
1324875 GRCh37: 19:33984219-33984219
GRCh38: 19:33493313-33493313
16 PEPD NM_000285.4(PEPD):c.825del (p.Phe275fs) DEL Likely Pathogenic
1327989 GRCh37: 19:33892769-33892769
GRCh38: 19:33401863-33401863
17 PEPD NM_000285.4(PEPD):c.692_694del (p.Tyr231del) DEL Likely Pathogenic
328810 rs745834191 GRCh37: 19:33904527-33904529
GRCh38: 19:33413621-33413623
18 PEPD NM_000285.4(PEPD):c.504-1G>A SNV Likely Pathogenic
804428 rs542228812 GRCh37: 19:33968997-33968997
GRCh38: 19:33478091-33478091
19 PEPD NM_000285.4(PEPD):c.279G>A (p.Ser93=) SNV Uncertain Significance
328821 rs780889402 GRCh37: 19:34001984-34001984
GRCh38: 19:33511078-33511078
20 PEPD NM_000285.4(PEPD):c.1344+13G>A SNV Uncertain Significance
889808 rs375401743 GRCh37: 19:33878783-33878783
GRCh38: 19:33387877-33387877
21 PEPD NM_000285.4(PEPD):c.1345-11G>C SNV Uncertain Significance
328786 rs374919986 GRCh37: 19:33878398-33878398
GRCh38: 19:33387492-33387492
22 PEPD NM_000285.4(PEPD):c.492C>T (p.Asp164=) SNV Uncertain Significance
328815 rs370105932 GRCh37: 19:33980913-33980913
GRCh38: 19:33490007-33490007
23 PEPD NM_000285.4(PEPD):c.1153-6C>T SNV Uncertain Significance
328798 rs886054335 GRCh37: 19:33878993-33878993
GRCh38: 19:33388087-33388087
24 PEPD NM_000285.4(PEPD):c.751T>A (p.Ser251Thr) SNV Uncertain Significance
328807 rs201572375 GRCh37: 19:33902645-33902645
GRCh38: 19:33411739-33411739
25 PEPD NM_000285.4(PEPD):c.393+4G>A SNV Uncertain Significance
522945 rs1555769771 GRCh37: 19:33991840-33991840
GRCh38: 19:33500934-33500934
26 PEPD NM_000285.4(PEPD):c.1079G>A (p.Gly360Glu) SNV Uncertain Significance
889198 rs201089253 GRCh37: 19:33882274-33882274
GRCh38: 19:33391368-33391368
27 PEPD NM_000285.4(PEPD):c.624+15G>A SNV Uncertain Significance
328813 rs538519269 GRCh37: 19:33954878-33954878
GRCh38: 19:33463972-33463972
28 PEPD NM_000285.4(PEPD):c.447C>T (p.Gly149=) SNV Uncertain Significance
328819 rs375023206 GRCh37: 19:33980958-33980958
GRCh38: 19:33490052-33490052
29 PEPD NM_000285.4(PEPD):c.834C>T (p.Gly278=) SNV Uncertain Significance
328805 rs371699300 GRCh37: 19:33892760-33892760
GRCh38: 19:33401854-33401854
30 PEPD NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) SNV Uncertain Significance
328822 rs201865747 GRCh37: 19:34002004-34002004
GRCh38: 19:33511098-33511098
31 PEPD NM_000285.4(PEPD):c.672-9C>G SNV Uncertain Significance
328811 rs886054336 GRCh37: 19:33904558-33904558
GRCh38: 19:33413652-33413652
32 PEPD NM_000285.4(PEPD):c.1281G>A (p.Ala427=) SNV Uncertain Significance
328794 rs183038027 GRCh37: 19:33878859-33878859
GRCh38: 19:33387953-33387953
33 PEPD NM_000285.4(PEPD):c.-1C>T SNV Uncertain Significance
328823 rs757625583 GRCh37: 19:34012667-34012667
GRCh38: 19:33521761-33521761
34 PEPD NM_000285.4(PEPD):c.*127T>C SNV Uncertain Significance
889119 rs149914845 GRCh37: 19:33878123-33878123
GRCh38: 19:33387217-33387217
35 PEPD NM_000285.4(PEPD):c.*96G>A SNV Uncertain Significance
889120 rs1191204610 GRCh37: 19:33878154-33878154
GRCh38: 19:33387248-33387248
36 PEPD NM_000285.4(PEPD):c.1414G>A (p.Val472Met) SNV Uncertain Significance
889121 rs200072143 GRCh37: 19:33878318-33878318
GRCh38: 19:33387412-33387412
37 PEPD NM_000285.4(PEPD):c.757G>A (p.Val253Met) SNV Uncertain Significance
889199 rs200450538 GRCh37: 19:33902639-33902639
GRCh38: 19:33411733-33411733
38 PEPD NM_000285.4(PEPD):c.1353C>T (p.Ile451=) SNV Uncertain Significance
889807 rs770898814 GRCh37: 19:33878379-33878379
GRCh38: 19:33387473-33387473
39 PEPD NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys) SNV Uncertain Significance
889809 rs537755422 GRCh37: 19:33878816-33878816
GRCh38: 19:33387910-33387910
40 PEPD NM_000285.4(PEPD):c.736G>A (p.Gly246Ser) SNV Uncertain Significance
889882 rs368547324 GRCh37: 19:33904485-33904485
GRCh38: 19:33413579-33413579
41 PEPD NM_000285.4(PEPD):c.678C>T (p.Phe226=) SNV Uncertain Significance
889883 rs746307467 GRCh37: 19:33904543-33904543
GRCh38: 19:33413637-33413637
42 PEPD NM_000285.4(PEPD):c.393G>A (p.Glu131=) SNV Uncertain Significance
891671 rs771409768 GRCh37: 19:33991844-33991844
GRCh38: 19:33500938-33500938
43 PEPD NM_000285.4(PEPD):c.331A>T (p.Ile111Phe) SNV Uncertain Significance
891672 rs755350900 GRCh37: 19:33991906-33991906
GRCh38: 19:33501000-33501000
44 PEPD NM_000285.4(PEPD):c.*275C>G SNV Uncertain Significance
892492 rs1968084959 GRCh37: 19:33877975-33877975
GRCh38: 19:33387069-33387069
45 PEPD NM_000285.4(PEPD):c.*225T>A SNV Uncertain Significance
892493 rs1738163877 GRCh37: 19:33878025-33878025
GRCh38: 19:33387119-33387119
46 PEPD NM_000285.4(PEPD):c.1291C>T (p.Arg431Cys) SNV Uncertain Significance
328793 rs751121493 GRCh37: 19:33878849-33878849
GRCh38: 19:33387943-33387943
47 PEPD NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys) SNV Uncertain Significance
328790 rs376372688 GRCh37: 19:33878831-33878831
GRCh38: 19:33387925-33387925
48 PEPD NM_000285.4(PEPD):c.462C>T (p.Ser154=) SNV Uncertain Significance
328816 rs375631938 GRCh37: 19:33980943-33980943
GRCh38: 19:33490037-33490037
49 PEPD NM_000285.4(PEPD):c.*155G>A SNV Uncertain Significance
328779 rs565481482 GRCh37: 19:33878095-33878095
GRCh38: 19:33387189-33387189
50 PEPD NM_000285.4(PEPD):c.1365C>T (p.Val455=) SNV Uncertain Significance
328785 rs778506447 GRCh37: 19:33878367-33878367
GRCh38: 19:33387461-33387461

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

73
# 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

GO Terms for Prolidase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 dipeptidase activity GO:0016805 8.8 PEPD DPEP2

Sources for Prolidase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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