MCID: PPL049
MIFTS: 50

Papillon-Lefevre Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases, Fetal diseases, Blood diseases, Oral diseases

Aliases & Classifications for Papillon-Lefevre Syndrome

MalaCards integrated aliases for Papillon-Lefevre Syndrome:

Name: Papillon-Lefevre Syndrome 57 75 37 13 55 40 53 59 29 6
Papillon-Lefevre Disease 12 44 15 73
Keratosis Palmoplantaris with Periodontopathia 57 53 75
Pls 57 59 75
Keratosis Palmoplantar-Periodontopathy Syndrome 53 59
Papillon Lefevre Syndrome 12 53
Pals 57 75
Palmar-Plantar Hyperkeratosis and Concomitant Periodontal Destruction 53
Hyperkeratosis Palmoplantaris with Periodontosis 53
Keratoris Palmoplantaris with Periodontopathia 53
Palmoplantar Keratoderma with Periodontosis 53
Keratosis Palmoplantar - Periodontopathy 53
Papillon-Lefvre Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
papillon-lefèvre syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
papillon-lefevre syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 245000
Disease Ontology 12 DOID:3389
MeSH 44 D010214
NCIt 50 C84992
SNOMED-CT 68 40158001
Orphanet 59 ORPHA678
MESH via Orphanet 45 D010214
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C0030360
MedGen 42 C0030360
KEGG 37 H00274
UMLS 73 C0030360

Summaries for Papillon-Lefevre Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 678Disease definitionPapillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.EpidemiologyThe prevalence is estimated between 1/250,000 and 1/1,000,000 individuals. The male to female ratio is 1:1. PLS is found in all ethnic groups.Clinical descriptionDiffuse palmoplantar keratoderma (see this term) with erythematous plaques develops between the first and fourth years of life, with the soles being usually more severely affected than the palms. Psoriasiform hyperkeratosis can overflow onto the dorsal surfaces of the hands and feet (transgredient spread) and, less frequently, lesions can be seen on the limbs (knees, elbows). Skin lesions are followed by intense gingivitis that rapidly progresses into periodontitis with alveolar bone lysis and early loss of primary dentition. The skin lesions are aggravated by cold and during episodes of severe periodontitis. During childhood, the phenomenon of periodontal disease recurs with rapid loss of permanent dentition. Cases of PLS with mild and/or late-onset periodontal disease have been reported occasionally. PLS is accompanied, in half of the patients, by enhanced susceptibility to cutaneous and systemic infections (furunculosis, skin abscesses, pyoderma, hidradenitis suppurativa (see this term), respiratory tract infection...). Patients may also present with malodorous hyperhidrosis, follicular hyperkeratosis, nail dystrophy or dural calcifications. The association of PLS with malignant melanoma or squamous cell carcinoma has been reported in very rare occasions.EtiologyPLS is due to mutations in the CTSC gene (11q14.2) that codes for cathepsin C (also known as dipeptidyl peptidase I), a lysosomal protease playing a role in epidermal differentiation and desquamation and in activation of serine proteases expressed in cells of the immune system. CTSC mutations lead to an almost total loss of cathepsin C activity which seems to result in susceptibility to specific virulent pathogens. It is also suggested that other immune-mediated deficiencies in the host defense mechanism could be involved in the pathogenesis of PLS.Diagnostic methodsDiagnosis is based on clinical signs. Dental radiography shows atrophy of the alveolar bone. Neutrophil function tests reveal anomalies of chemotaxis and phagocytosis by polymorphonuclear leukocytes. Skin biopsy shows hyperkeratosis with focal parakeratosis, moderate perivascular infiltration, hypergranulosis, and acanthosis. Biochemical analysis reveals a loss of CTSC activity. Diagnosis is confirmed by genetic testing.Differential diagnosisDifferential diagnosis includes two rare disorders that are allelic variants of PLS, Haim-Munk syndrome (see this term) and prepubertal/aggressive periodontitis. Other diseases with similar dermatologic features include localized epidermolytic palmoplantar keratoderma (Vörner), mal de Meleda, Howel-Evans syndrome, transgrediens et progrediens palmoplantar keratoderma (Greither's disease) (see these terms), and keratosis punctata.Antenatal diagnosisAntenatal diagnosis is theoretically possible but has never been reported.Genetic counselingTransmission is autosomal recessive. Genetic counseling should be offered to the parents of an affected individual informing them of the 25% chance their offspring has of inheriting the disease causing mutation.Management and treatmentTreatment is based on oral retinoids which attenuate the palmoplantar keratoderma and slow the alveolar bone lysis. Antibiotics, along with oral hygiene and use of mouth rinses, are also recommended for slowing the progression of periodontitis. Ultimately, primary or remaining teeth are extracted and are replaced by dental implants. Antibiotherapy is also used in the treatment of recurrent infections. Etretinate (a synthetic retinoid) shows promising results in the treatment of PLS.PrognosisDespite meticulous dental care, all patients eventually become edentulous at the beginning of adulthood. Life expectancy is normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Papillon-Lefevre Syndrome, also known as papillon-lefevre disease, is related to platelet groups--pl system and lateral sclerosis. An important gene associated with Papillon-Lefevre Syndrome is CTSC (Cathepsin C), and among its related pathways/superpathways are Lysosome and IL12-mediated signaling events. The drugs Contraceptive Agents and Contraceptives, Oral have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, and related phenotypes are cerebral calcification and recurrent respiratory infections

OMIM : 57 Papillion-Lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition (summary by Lefevre et al., 2001). (245000)

UniProtKB/Swiss-Prot : 75 Papillon-Lefevre syndrome: An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.

Wikipedia : 76 Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an... more...

Related Diseases for Papillon-Lefevre Syndrome

Graphical network of the top 20 diseases related to Papillon-Lefevre Syndrome:



Diseases related to Papillon-Lefevre Syndrome

Symptoms & Phenotypes for Papillon-Lefevre Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
atrophy of alveolar ridges
premature tooth loss (both primary and secondary dentition)

Head And Neck Mouth:
severe, early-onset periodontitis

Skin Nails Hair Skin:
hyperkeratosis of palms and soles

Neurologic Central Nervous System:
dural and choroid plexus calcifications


Clinical features from OMIM:

245000

Human phenotypes related to Papillon-Lefevre Syndrome:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
2 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
3 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
4 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
5 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
6 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
7 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
8 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
9 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
10 gingivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000230
11 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
12 recurrent cutaneous abscess formation 59 32 frequent (33%) Frequent (79-30%) HP:0100838
13 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
14 liver abscess 59 32 occasional (7.5%) Occasional (29-5%) HP:0100523
15 sparse body hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002231
16 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
17 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
18 palmoplantar hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000972
19 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
20 hypertrichosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000998
21 severe periodontitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000166
22 cigarette-paper scars 59 32 occasional (7.5%) Occasional (29-5%) HP:0001073
23 atrophy of alveolar ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0006308
24 chronic furunculosis 59 32 frequent (33%) Frequent (79-30%) HP:0011132
25 abnormality of the dentition 59 Very frequent (99-80%)
26 abnormality of the nail 59 Frequent (79-30%)
27 periodontitis 59 Very frequent (99-80%)
28 neoplasm of the skin 59 Occasional (29-5%)
29 recurrent skin infections 59 Frequent (79-30%)
30 premature loss of teeth 32 HP:0006480
31 choroid plexus calcification 32 HP:0006960

Drugs & Therapeutics for Papillon-Lefevre Syndrome

Drugs for Papillon-Lefevre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Contraceptive Agents
2 Contraceptives, Oral
3 Interferon-gamma
4 interferons

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cytokines in Papillon-Lefèvre Syndrome Completed NCT01116934

Search NIH Clinical Center for Papillon-Lefevre Syndrome

Cochrane evidence based reviews: papillon-lefevre disease

Genetic Tests for Papillon-Lefevre Syndrome

Genetic tests related to Papillon-Lefevre Syndrome:

# Genetic test Affiliating Genes
1 Papillon-Lefèvre Syndrome 29 CTSC

Anatomical Context for Papillon-Lefevre Syndrome

MalaCards organs/tissues related to Papillon-Lefevre Syndrome:

41
Skin, Bone, Testes, Neutrophil, Liver, Nk Cells

Publications for Papillon-Lefevre Syndrome

Articles related to Papillon-Lefevre Syndrome:

(show all 50)
# Title Authors Year
1
Papillon-Lefevre Syndrome: A case report. ( 29789144 )
2018
2
Oro-dental characteristics of three siblings with Papillon-Lefevre syndrome. ( 28091448 )
2017
3
Papillon Lefevre syndrome. ( 28453856 )
2017
4
Anesthesia Management of a Patient with Papillon-Lefevre Syndrome: A Case Report. ( 28920035 )
2017
5
[Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome]. ( 27060303 )
2016
6
Papillon-Lefevre Syndrome: Prosthodontic Rehabilitation of Oral Function. ( 27806824 )
2016
7
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family. ( 27579005 )
2016
8
Papillon-lefevre syndrome: review of literature and report of three cases in the same family. ( 25875417 )
2015
9
Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. ( 25799584 )
2015
10
Papillon-Lefevre Syndrome In An Adolescent Female: A Case Study. ( 26155583 )
2015
11
Papillon Lefevre Syndrome and footsteps of mycobacterium tuberculosis. ( 24659165 )
2014
12
Prosthodontic rehabilitation of Papillon Lefevre Syndrome. ( 24906267 )
2014
13
Partial expression of the Papillon-Lefevre syndrome. ( 25518784 )
2014
14
Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor. ( 25057233 )
2014
15
Papillon-lefevre syndrome: Case series and review of literature. ( 24554896 )
2013
16
Papillon-Lefevre syndrome with pseudoainhum. ( 23130191 )
2010
17
Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype. ( 20534088 )
2010
18
A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. ( 20236208 )
2010
19
Papillon-lefevre syndrome. ( 21886733 )
2009
20
[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome]. ( 18841559 )
2008
21
Papillon-Lefevre syndrome: Report of two cases in the same family. ( 18603734 )
2008
22
Analysis of human leukocyte antigen class II gene polymorphism in Iranian patients with Papillon-Lefevre syndrome: a family study. ( 18791284 )
2008
23
Failure to treat keratoderma in Papillon-Lefevre syndrome using photodynamic therapy. ( 17673404 )
2007
24
Papillon-Lefevre syndrome: two case reports. ( 17938500 )
2007
25
Papillon-lefevre syndrome with congenital hepatic fibrosis. ( 17917635 )
2007
26
A case of Papillon-Lefevre syndrome associated with xanthogranulomatous pyelonephritis and hepatitis. ( 16469088 )
2006
27
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. ( 16410452 )
2006
28
A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome. ( 15857086 )
2005
29
Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome. ( 15991336 )
2005
30
Cathepsin C involvement in the aetiology of Papillon-Lefevre syndrome. ( 15525320 )
2004
31
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. ( 15108292 )
2004
32
The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. ( 14974080 )
2004
33
A genetic study of cathepsin C gene in two families with Papillon- Lefevre syndrome. ( 12809647 )
2003
34
Dental implants in a young patient with Papillon-Lefevre syndrome: a case report. ( 12861881 )
2003
35
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome. ( 12112662 )
2002
36
The presence of cytokine (IL-8, IL-1alpha, IL-1beta)-producing cells in inflamed gingival tissue from a patient manifesting Papillon-Lefevre syndrome(PLS). ( 12126647 )
2002
37
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon- Lefevre syndrome. ( 11886537 )
2001
38
Cathepsin C gene: first compound heterozygous patient with Papillon- Lefevre syndrome and a novel symptomless mutation. ( 11180601 )
2001
39
Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene. ( 11180012 )
2001
40
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients. ( 11158173 )
2001
41
Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. ( 10662807 )
2000
42
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. ( 11106356 )
2000
43
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. ( 9272739 )
1997
44
Papillon Lefevre syndrome: treatment of two cases with a clinical microbiological and histopathological investigation. ( 8466848 )
1993
45
Hyperkeratosis palmoplantaris with premature periodontal destruction (Papillon Lefevre syndrome)--report of two cases. ( 2532593 )
1989
46
Hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefevre syndrome): report of three cases, two occurring in siblings. ( 155154 )
1979
47
Papillon-Lefevre syndrome. Precocious periodontosis with epidermal lesions: review of literature and presentation of five cases. ( 147767 )
1976
48
Periodontosis with hyperkeratosis palmaris et plantaris (The Papillon Lefevre Syndrome): a case report. ( 4275211 )
1974
49
Case report. Hyperkeratosis palmoplantaris and periodontosis: The Papillon-Lefevre Syndrome. ( 5251213 )
1969
50
Papillon-Lefevre syndrome: precocious periodontosis with palmar-plantar hyperkeratosis. ( 5222801 )
1966

Variations for Papillon-Lefevre Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Papillon-Lefevre Syndrome:

75 (show all 26)
# Symbol AA change Variation ID SNP ID
1 CTSC p.Val249Phe VAR_009541
2 CTSC p.Gln252Leu VAR_009542 rs104894207
3 CTSC p.Arg272Pro VAR_009543 rs587777534
4 CTSC p.Gly301Ser VAR_009544 rs104894214
5 CTSC p.Arg339Cys VAR_009545 rs1044703733Papillon-Lefevre
6 CTSC p.Tyr347Cys VAR_009546 rs104894211
7 CTSC p.Trp39Ser VAR_016933 rs104894210
8 CTSC p.His127Pro VAR_016934 rs104894216
9 CTSC p.Gln286Arg VAR_016935 rs104894208
10 CTSC p.Trp429Cys VAR_016936 rs104894215
11 CTSC p.Tyr340Cys VAR_016944
12 CTSC p.Val129Glu VAR_019036 rs760130711
13 CTSC p.Gly139Arg VAR_019037 rs749103588
14 CTSC p.Asp236Tyr VAR_019038 rs764724707
15 CTSC p.Arg272His VAR_019039 rs587777534
16 CTSC p.Cys291Tyr VAR_019040 rs748729285
17 CTSC p.Gly300Asp VAR_019041
18 CTSC p.Gly300Ser VAR_019042
19 CTSC p.Gly301Val VAR_019043
20 CTSC p.Tyr304Asn VAR_019044
21 CTSC p.Gln312Arg VAR_019045
22 CTSC p.Glu319Gly VAR_019046
23 CTSC p.Glu447Gly VAR_019048
24 CTSC p.His405Asn VAR_027249
25 CTSC p.His405Arg VAR_027250 rs151269219
26 CTSC p.Tyr294His VAR_039686

ClinVar genetic disease variations for Papillon-Lefevre Syndrome:

6
(show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSC NM_001814.5(CTSC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs104894206 GRCh37 Chromosome 11, 88042344: 88042344
2 CTSC NM_001814.5(CTSC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic rs104894206 GRCh38 Chromosome 11, 88309176: 88309176
3 CTSC NM_001814.5(CTSC): c.890-1G> A single nucleotide variant Pathogenic rs587776654 GRCh38 Chromosome 11, 88294509: 88294509
4 CTSC NM_001814.5(CTSC): c.890-1G> A single nucleotide variant Pathogenic rs587776654 GRCh37 Chromosome 11, 88027677: 88027677
5 CTSC NM_001814.5(CTSC): c.755A> T (p.Gln252Leu) single nucleotide variant Likely pathogenic rs104894207 GRCh37 Chromosome 11, 88033700: 88033700
6 CTSC NM_001814.5(CTSC): c.755A> T (p.Gln252Leu) single nucleotide variant Likely pathogenic rs104894207 GRCh38 Chromosome 11, 88300532: 88300532
7 CTSC NM_001814.5(CTSC): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic rs104894209 GRCh38 Chromosome 11, 88296166: 88296166
8 CTSC NM_001814.5(CTSC): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic rs104894209 GRCh37 Chromosome 11, 88029334: 88029334
9 CTSC NM_001814.5(CTSC): c.1047delA (p.Gly350Valfs) deletion Pathogenic rs587776655 GRCh38 Chromosome 11, 88294351: 88294351
10 CTSC NM_001814.5(CTSC): c.1047delA (p.Gly350Valfs) deletion Pathogenic rs587776655 GRCh37 Chromosome 11, 88027519: 88027519
11 CTSC NM_001814.5(CTSC): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs104894208 GRCh37 Chromosome 11, 88029333: 88029333
12 CTSC NM_001814.5(CTSC): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs104894208 GRCh38 Chromosome 11, 88296165: 88296165
13 CTSC NM_001814.5(CTSC): c.116G> C (p.Trp39Ser) single nucleotide variant Pathogenic rs104894210 GRCh37 Chromosome 11, 88070725: 88070725
14 CTSC NM_001814.5(CTSC): c.116G> C (p.Trp39Ser) single nucleotide variant Pathogenic rs104894210 GRCh38 Chromosome 11, 88337557: 88337557
15 CTSC NM_001814.5(CTSC): c.901G> A (p.Gly301Ser) single nucleotide variant Pathogenic rs104894214 GRCh37 Chromosome 11, 88027665: 88027665
16 CTSC NM_001814.5(CTSC): c.901G> A (p.Gly301Ser) single nucleotide variant Pathogenic rs104894214 GRCh38 Chromosome 11, 88294497: 88294497
17 CTSC NM_001814.5(CTSC): c.1287G> C (p.Trp429Cys) single nucleotide variant Pathogenic rs104894215 GRCh37 Chromosome 11, 88027279: 88027279
18 CTSC NM_001814.5(CTSC): c.1287G> C (p.Trp429Cys) single nucleotide variant Pathogenic rs104894215 GRCh38 Chromosome 11, 88294111: 88294111
19 CTSC NM_001814.5(CTSC): c.380A> C (p.His127Pro) single nucleotide variant Pathogenic rs104894216 GRCh37 Chromosome 11, 88045661: 88045661
20 CTSC NM_001814.5(CTSC): c.380A> C (p.His127Pro) single nucleotide variant Pathogenic rs104894216 GRCh38 Chromosome 11, 88312493: 88312493
21 CTSC NM_001814.5(CTSC): c.1040A> G (p.Tyr347Cys) single nucleotide variant Pathogenic rs104894211 GRCh37 Chromosome 11, 88027526: 88027526
22 CTSC NM_001814.5(CTSC): c.1040A> G (p.Tyr347Cys) single nucleotide variant Pathogenic rs104894211 GRCh38 Chromosome 11, 88294358: 88294358
23 CTSC NM_001814.5(CTSC): c.1056delT (p.Tyr352Terfs) deletion Pathogenic rs587777532 GRCh38 Chromosome 11, 88294342: 88294342
24 CTSC NM_001814.5(CTSC): c.1056delT (p.Tyr352Terfs) deletion Pathogenic rs587777532 GRCh37 Chromosome 11, 88027510: 88027510
25 CTSC NM_001814.5(CTSC): c.96T> G (p.Tyr32Ter) single nucleotide variant Pathogenic rs587777533 GRCh38 Chromosome 11, 88337577: 88337577
26 CTSC NM_001814.5(CTSC): c.96T> G (p.Tyr32Ter) single nucleotide variant Pathogenic rs587777533 GRCh37 Chromosome 11, 88070745: 88070745
27 CTSC NM_001814.5(CTSC): c.1357A> G (p.Ile453Val) single nucleotide variant Benign/Likely benign rs3888798 GRCh37 Chromosome 11, 88027209: 88027209
28 CTSC NM_001814.5(CTSC): c.1357A> G (p.Ile453Val) single nucleotide variant Benign/Likely benign rs3888798 GRCh38 Chromosome 11, 88294041: 88294041
29 CTSC NM_001814.5(CTSC): c.1173T> G (p.Thr391=) single nucleotide variant Benign/Likely benign rs17594 GRCh37 Chromosome 11, 88027393: 88027393
30 CTSC NM_001814.5(CTSC): c.1173T> G (p.Thr391=) single nucleotide variant Benign/Likely benign rs17594 GRCh38 Chromosome 11, 88294225: 88294225
31 CTSC NM_001814.5(CTSC): c.-18T> C single nucleotide variant Likely benign rs11019400 GRCh37 Chromosome 11, 88070858: 88070858
32 CTSC NM_001814.5(CTSC): c.-18T> C single nucleotide variant Likely benign rs11019400 GRCh38 Chromosome 11, 88337690: 88337690
33 CTSC NM_001814.5(CTSC): c.*279A> G single nucleotide variant Uncertain significance rs146045268 GRCh37 Chromosome 11, 88026895: 88026895
34 CTSC NM_001814.5(CTSC): c.*279A> G single nucleotide variant Uncertain significance rs146045268 GRCh38 Chromosome 11, 88293727: 88293727
35 CTSC NM_001814.5(CTSC): c.*253T> C single nucleotide variant Uncertain significance rs116618365 GRCh37 Chromosome 11, 88026921: 88026921
36 CTSC NM_001814.5(CTSC): c.*253T> C single nucleotide variant Uncertain significance rs116618365 GRCh38 Chromosome 11, 88293753: 88293753
37 CTSC NM_001814.5(CTSC): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs886048739 GRCh37 Chromosome 11, 88027612: 88027612
38 CTSC NM_001814.5(CTSC): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs886048739 GRCh38 Chromosome 11, 88294444: 88294444
39 CTSC NM_001814.5(CTSC): c.948G> C (p.Leu316=) single nucleotide variant Uncertain significance rs145373075 GRCh37 Chromosome 11, 88027618: 88027618
40 CTSC NM_001814.5(CTSC): c.948G> C (p.Leu316=) single nucleotide variant Uncertain significance rs145373075 GRCh38 Chromosome 11, 88294450: 88294450
41 CTSC NM_001814.5(CTSC): c.263A> G (p.Tyr88Cys) single nucleotide variant Uncertain significance rs142378484 GRCh38 Chromosome 11, 88334992: 88334992
42 CTSC NM_001814.5(CTSC): c.263A> G (p.Tyr88Cys) single nucleotide variant Uncertain significance rs142378484 GRCh37 Chromosome 11, 88068160: 88068160
43 CTSC NM_001814.5(CTSC): c.173-6delC deletion Uncertain significance rs372892181 GRCh38 Chromosome 11, 88335088: 88335088
44 CTSC NM_001814.5(CTSC): c.173-6delC deletion Uncertain significance rs372892181 GRCh37 Chromosome 11, 88068256: 88068256
45 CTSC NM_001814.5(CTSC): c.-7C> A single nucleotide variant Uncertain significance rs770352776 GRCh38 Chromosome 11, 88337679: 88337679
46 CTSC NM_001814.5(CTSC): c.-7C> A single nucleotide variant Uncertain significance rs770352776 GRCh37 Chromosome 11, 88070847: 88070847
47 CTSC NM_001814.5(CTSC): c.-23C> G single nucleotide variant Uncertain significance rs886048743 GRCh37 Chromosome 11, 88070863: 88070863
48 CTSC NM_001814.5(CTSC): c.-23C> G single nucleotide variant Uncertain significance rs886048743 GRCh38 Chromosome 11, 88337695: 88337695
49 CTSC NM_001814.5(CTSC): c.-48G> A single nucleotide variant Uncertain significance rs200415443 GRCh38 Chromosome 11, 88337720: 88337720
50 CTSC NM_001814.5(CTSC): c.-48G> A single nucleotide variant Uncertain significance rs200415443 GRCh37 Chromosome 11, 88070888: 88070888

Expression for Papillon-Lefevre Syndrome

Search GEO for disease gene expression data for Papillon-Lefevre Syndrome.

Pathways for Papillon-Lefevre Syndrome

Pathways related to Papillon-Lefevre Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Papillon-Lefevre Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.31 GZMB HLA-DRB1
2 11.17 CTSC HLA-DRB1
3 10.91 CCL3L1 HLA-DRB1
4 10.89 CTSC CTSG SLC17A5

GO Terms for Papillon-Lefevre Syndrome

Cellular components related to Papillon-Lefevre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.16 CTSG GZMB
2 azurophil granule lumen GO:0035578 8.96 CTSC CTSG
3 lysosome GO:0005764 8.8 CTSC HLA-DRB1 SLC17A5

Biological processes related to Papillon-Lefevre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein processing GO:0016485 8.96 CTSG GZMB
2 immune response GO:0006955 8.92 CCL3L1 CTSC CTSG HLA-DRB1

Molecular functions related to Papillon-Lefevre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.46 CTSC CTSG DPYS GZMB
2 peptidase activity GO:0008233 9.13 CTSC CTSG GZMB
3 serine-type endopeptidase activity GO:0004252 8.8 CTSC CTSG GZMB

Sources for Papillon-Lefevre Syndrome

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
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