PALS
MCID: PPL049
MIFTS: 65

Papillon-Lefevre Syndrome (PALS)

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

Aliases & Classifications for Papillon-Lefevre Syndrome

MalaCards integrated aliases for Papillon-Lefevre Syndrome:

Name: Papillon-Lefevre Syndrome 56 58 73 36 13 54 39
Papillon-Lefèvre Syndrome 74 52 29 6
Papillon-Lefevre Disease 12 43 15 71
Keratosis Palmoplantaris with Periodontopathia 56 52 73
Pls 56 58 73
Keratosis Palmoplantar-Periodontopathy Syndrome 52 58
Papillon Lefevre Syndrome 12 52
Pals 56 73
Palmar-Plantar Hyperkeratosis and Concomitant Periodontal Destruction 52
Hyperkeratosis Palmoplantaris with Periodontosis 52
Keratoris Palmoplantaris with Periodontopathia 52
Palmoplantar Keratoderma with Periodontosis 52
Keratosis Palmoplantar - Periodontopathy 52
Papillon-Lefvre Syndrome 12
Palsy 17

Characteristics:

Orphanet epidemiological data:

58
papillon-lefevre syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
papillon-lefevre syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare immunological diseases
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:3389
OMIM 56 245000
KEGG 36 H00274
MeSH 43 D010214
NCIt 49 C84992
SNOMED-CT 67 40158001
MESH via Orphanet 44 D010214
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0030360
Orphanet 58 ORPHA678
MedGen 41 C0030360
UMLS 71 C0030360

Summaries for Papillon-Lefevre Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 678 Definition Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. Epidemiology The 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 description Diffuse 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. Etiology PLS 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 methods Diagnosis 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 diagnosis Differential 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 (Vorner), mal de Meleda, Howel-Evans syndrome, transgrediens et progrediens palmoplantar keratoderma (Greither's disease) (see these terms), and keratosis punctata. Antenatal diagnosis Antenatal diagnosis is theoretically possible but has never been reported. Genetic counseling Transmission 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 treatment Treatment 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. Prognosis Despite 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-lefèvre syndrome, is related to pustulosis of palm and sole and vasculitis. An important gene associated with Papillon-Lefevre Syndrome is CTSC (Cathepsin C), and among its related pathways/superpathways are Lysosome and Degradation of the extracellular matrix. The drugs Sevoflurane and Heparin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are palmoplantar keratoderma and gingivitis

Disease Ontology : 12 An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has material basis in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.

OMIM : 56 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)

KEGG : 36 Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its substrates. The disease is characterized by palmoplantar keratoderma and juvenile periodontitis.

UniProtKB/Swiss-Prot : 73 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 : 74 Papillon-Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an... more...

Related Diseases for Papillon-Lefevre Syndrome

Diseases related to Papillon-Lefevre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2044)
# Related Disease Score Top Affiliating Genes
1 pustulosis of palm and sole 30.8 SIGLEC5 CCR6
2 vasculitis 30.6 PRTN3 ELANE CTSG
3 temporal arteritis 30.1 PRTN3 HLA-DRB1 CCR6
4 psoriasis 30.0 ITGAL HLA-DRB1 ELANE CCR6 CAMP
5 peritonitis 30.0 PRTN3 ELANE CTSG CMA1
6 skin disease 30.0 SPINK5 SIGLEC5 ITGAL CCR6 CAMP
7 syphilis 30.0 PRTN3 HLA-DRB1 CCR6
8 dermatitis 29.9 SPINK5 GZMB CMA1 CCR6
9 typhoid fever 29.9 SIGLEC5 HLA-DRB1 CCR6
10 polyarteritis nodosa 29.8 PRTN3 ITGAL HLA-DRB1
11 bone inflammation disease 29.7 PRTN3 HLA-DRB1 CCR6
12 dacryoadenitis 29.6 SLC17A5 CCR6
13 pars planitis 29.6 HLA-DRB1 CCR6
14 igg4-related disease 29.6 PRTN3 CCR6
15 bacterial infectious disease 29.6 ELANE CCR6 CAMP
16 glomerulonephritis 29.4 PRTN3 ITGAL ELANE CTSG
17 lung disease 29.4 PRTN3 ELANE CTSG CAMP
18 central nervous system vasculitis 29.4 PRTN3 HLA-DRB1 CCR6
19 ulcerative colitis 29.4 PRTN3 HLA-DRB1 CTSG CCR6
20 acute proliferative glomerulonephritis 29.3 PRTN3 CTSG CCR6
21 human immunodeficiency virus infectious disease 29.3 ITGAL GZMB CCR6
22 granulomatosis with polyangiitis 29.3 SPINK5 PRTN3 ELANE CTSG CCR6
23 scleritis 29.2 PRTN3 CCR6
24 malaria 29.1 PRTN3 ITGAL HLA-DRB1 ELANE CTSG CCR6
25 rheumatoid arthritis 29.0 PRTN3 ITGAL HLA-DRB1 ELANE CTSG CCR6
26 impetigo 28.9 PRTN3 ELANE CCR6 CAMP
27 autoimmune vasculitis 28.8 SPINK5 PRTN3 ELANE CCR6
28 systemic lupus erythematosus 28.5 PRTN3 ITGAL HLA-DRB1 ELANE CTSG CCR6
29 pulmonary disease, chronic obstructive 28.5 SIGLEC5 PRTN3 GZMB ELANE CTSG CCR6
30 inflammatory bowel disease 28.5 PRTN3 ITGAL HLA-DRB1 GZMB ELANE CTSG
31 asthma 27.1 SPINK5 ITGAL HLA-DRB1 GZMB ELANE CTSG
32 cerebral palsy 13.0
33 bell's palsy 12.8
34 cerebral palsy, ataxic, autosomal recessive 12.7
35 neuropathy, hereditary, with liability to pressure palsies 12.7
36 dyskinetic cerebral palsy 12.7
37 fourth cranial nerve palsy, familial congenital 12.6
38 conjugate gaze palsy 12.6
39 spastic diplegia cerebral palsy 12.6
40 progressive bulbar palsy 12.6
41 cerebral palsy, spastic quadriplegic, 1 12.6
42 horizontal gaze palsy with progressive scoliosis 12.6
43 spastic cerebral palsy 12.5
44 fourth cranial nerve palsy 12.5
45 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 12.5
46 cerebral palsy, spastic quadriplegic, 2 12.5
47 arthrogryposis, perthes disease, and upward gaze palsy 12.5
48 gaze palsy, familial horizontal, with progressive scoliosis 1 12.5
49 pseudobulbar palsy 12.5
50 cerebral palsy, spastic quadriplegic, 3 12.5

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



Diseases related to Papillon-Lefevre Syndrome

Symptoms & Phenotypes for Papillon-Lefevre Syndrome

Human phenotypes related to Papillon-Lefevre Syndrome:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 gingivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000230
3 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
4 pustule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200039
5 palmoplantar hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000972
6 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
7 severe periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000166
8 atrophy of alveolar ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0006308
9 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
10 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
11 recurrent cutaneous abscess formation 58 31 frequent (33%) Frequent (79-30%) HP:0100838
12 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
13 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
14 chronic furunculosis 58 31 frequent (33%) Frequent (79-30%) HP:0011132
15 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
16 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
17 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
18 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
19 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
20 sparse body hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002231
21 liver abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0100523
22 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
23 hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000998
24 cigarette-paper scars 58 31 occasional (7.5%) Occasional (29-5%) HP:0001073
25 abnormality of the dentition 58 Very frequent (99-80%)
26 abnormality of the nail 58 Frequent (79-30%)
27 abnormality of the fingernails 58 Very frequent (99-80%)
28 periodontitis 58 Very frequent (99-80%)
29 neoplasm of the skin 58 Occasional (29-5%)
30 premature loss of teeth 31 HP:0006480
31 recurrent skin infections 58 Frequent (79-30%)
32 choroid plexus calcification 31 HP:0006960

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Papillon-Lefevre Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 CAMP CCR6 CMA1 CTSC CTSG ELANE
2 immune system MP:0005387 9.28 CAMP CCR6 CMA1 CTSC CTSG ELANE

Drugs & Therapeutics for Papillon-Lefevre Syndrome

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

(show top 50) (show all 408)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
2
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
6
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
7
Sodium citrate Approved, Investigational Phase 4 68-04-2
8
Caffeine Approved Phase 4 58-08-2 2519
9
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
10
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Promethazine Approved, Investigational Phase 4 60-87-7 4927
13
Suvorexant Approved, Investigational Phase 4 1030377-33-3
14
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
15
Zolpidem Approved Phase 4 82626-48-0 5732
16
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
17
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
18
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
19
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
20
Methadone Approved Phase 4 76-99-3 4095
21
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
22
Iodine Approved, Investigational Phase 4 7553-56-2 807
23
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
24
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
25
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
26
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
27
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
28
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
30
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
31
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
32
Cortisone Experimental Phase 4 53-06-5 222786
33 Hypnotics and Sedatives Phase 4
34 Cholinesterase Inhibitors Phase 4
35 Anesthetics, General Phase 4
36 Anesthetics, Intravenous Phase 4
37 Parasympatholytics Phase 4
38 Muscarinic Antagonists Phase 4
39 Cholinergic Antagonists Phase 4
40 Platelet Aggregation Inhibitors Phase 4
41 Anesthetics, Inhalation Phase 4
42 calcium heparin Phase 4
43 Neuromuscular Blocking Agents Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Antirheumatic Agents Phase 4
46 Anti-Inflammatory Agents, Non-Steroidal Phase 4
47 valacyclovir Phase 4
48 Cyclooxygenase Inhibitors Phase 4
49 Acidophilus Phase 4
50 Sunflower Phase 4

Interventional clinical trials:

(show top 50) (show all 1444)
# Name Status NCT ID Phase Drugs
1 Consequence of Dexmedetomidine on Emergence Deliruim After Sevoflurane Anesthesia in Children With Cerebral Palsy Unknown status NCT02244515 Phase 4 dexmedetomidine
2 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
3 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
4 Effects of Various Volume of Local Anaesthetic Use for Ultrasound Guided Supraclavicular Brachial Plexus Block on Successful Blockade and Diaphragmatic Motility. Unknown status NCT03476694 Phase 4
5 Does Saline Injection Around Phrenic Nerve Reduce Incidence of Diaphragmatic Paresis Following Interscalene Block? Unknown status NCT02893228 Phase 4 Levobupivacaine
6 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
7 Outcome Comparison of Allogenic Cancellous Bone and a New Synthetic Bone Substitute (geneX®) in Filling the Bone Defect Created With Medial Open Wedge High Tibial Osteotomy Unknown status NCT02000297 Phase 4
8 Efficacy of Intravenous Lidocaine in the Operative Management of Thyroid Surgery With Intraoperative Nerve Monitoring Unknown status NCT02479789 Phase 4 Lidocaine;Placebo
9 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
10 Recovery of Muscle Function After Deep Neuromuscular Block by Means of Dia-phragm Ultrasonography and Adductor Pollicis Acceleromyography: Comparison of Neostigmine vs. Sugammadex as Reversal Drugs. Unknown status NCT02698969 Phase 4 Sugammadex;Neostigmine;Atropine;Rocuronium;Fentanyl;Propofol;Sevoflurane
11 A Placebo Controlled, Cross-over, Double Blind, Randomized, Clinical Trial to Compare the Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
12 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
13 Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies. A Prospective, Randomized and Double-blinded Study Completed NCT00964639 Phase 4 Ropivacaine;Saline
14 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Safety and Efficacy of MEDITOXIN® in Children With Cerebral Palsy Completed NCT01256021 Phase 4 Botulinum Toxin Type A
15 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
16 Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children Completed NCT00154830 Phase 4
17 A Multicentre Placebo-Controlled Evaluation of Prednisolone and/or Valaciclovir for the Treatment of Bell's Palsy Completed NCT00510263 Phase 4 Prednisolone + placebo;Valaciclovir + placebo;Prednisolone + valaciclovir;Placebo + placebo
18 SPREAD AND EFFECTIVENESS OF BOTULINUM NEUROTOXIN A IN SPASTIC EQUINUS IN CEREBRAL PALSY:SHORT-TERM STUDY Completed NCT01276015 Phase 4 Botulinum Toxin Type A
19 Effect of Erythropoietin on Preterm Brain Injury Completed NCT02036073 Phase 4 recombinant human erythropoietin
20 Efficacy of the Supplementation With a Symbiotic, a Prebiotic and a Probiotic to Produce a Beneficial Effect on the Intestinal Microbiota and on the Characteristics of Feces in Children With Cerebral Palsy (CP) and Chronic Constipation Completed NCT03117322 Phase 4
21 Effect of Magnesium Sulfate on the Incidence of Periventricular Leukomalacia in the Very Preterm Neonate Completed NCT00120588 Phase 4 magnesium
22 Real-Time Assessment of Cryoballoon Pulmonary Vein Isolation Using a Novel Circular Mapping Catheter Completed NCT01448265 Phase 4
23 Magnetic Resonance Imaging and Neurodevelopmental Outcomes in Preterm Infants Following Administration of High-Dose Caffeine - A Pilot Study Completed NCT00809055 Phase 4 Caffeine citrate
24 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
25 A Comparison of Isolating the Pulmonary Veins With the Cryoballoon Catheter Versus Radiofrequency Segmental Isolation:a Randomized Controlled Prospective Non-inferiority Trial Completed NCT00774566 Phase 4
26 A Comparative Evaluation of Diclofenac Sodium Transdermal Patch, Oral Diclofenac Sodium With Intramuscular Injections of Diclofenac Sodium in Patients Suffering From Oral Pain: A Randomized Control Trial Completed NCT03221946 Phase 4 Diclofenac Sodium;Diclofenac sodium;Diclofenac
27 The Facial Nerve Palsy And Cortisone Evaluation (FACE) Study in Children: A Randomized Double-blind, Placebo-controlled, Multicenter Trial Recruiting NCT03781700 Phase 4 Prednisolone;Placebo Oral Tablet
28 Use of Amantadine in Treating Cognitive and Motor Impairments in Adolescents and Adults With Cerebral Palsy Recruiting NCT04273737 Phase 4 Amantadine Hydrochloride
29 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
30 Do We Need to Taper Down Steroid Therapy for Bell's Palsy: A Prospective Randomized Controlled Trial Recruiting NCT04406376 Phase 4 Prednisone tablet
31 Treatment of Disturbed Sleep in Progressive Supranuclear Palsy (PSP) Recruiting NCT04014387 Phase 4 Suvorexant;Zolpidem;Placebo oral capsule
32 Efficacy of a Peri-Operative Surgical-Site, Multimodal Drug Injection in Pediatric Patients With Cerebral Palsy Undergoing Hip Surgery: A Randomized Controlled Trial Recruiting NCT04074265 Phase 4 Ropivacaine injection;normal saline
33 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
34 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
35 Reducing Neonatal Morbidity by Discontinuing Oxytocin During the Active Phase of 1st Stage of Labor: a Multicenter Randomized Controlled Trial Recruiting NCT03991091 Phase 4 discontinuation of oxytocin administration;continuation of oxytocin administration
36 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Active, not recruiting NCT02633241 Phase 4 Dexmedetomidine-Propofol
37 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
38 Effectiveness of Armeo Spring Pediatric in Children With Narakas I Obstetric Brachial Plexus Injury Active, not recruiting NCT03780322 Phase 4
39 Methadone and Interscalene Block for Shoulder Surgery Active, not recruiting NCT03084588 Phase 4 methadone
40 ORthopaedic Trauma Anemia With Conservative Versus Liberal Transfusion Enrolling by invitation NCT02972593 Phase 4
41 Mixed Methods Investigation of Chronic Facial Paralysis in Individuals With Synkinesis: Study of Outcomes Before and After Treatment Enrolling by invitation NCT04148872 Phase 4 Chemodenervation (4 months)
42 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
43 The Impact of Preoperative Oral Dexamethasone Supplementation on the Biochemical Parameters and Results of Surgical Treatment in Patients With Nontoxic Multinodular Goiter Undergoing Total Thyroidectomy. Not yet recruiting NCT04412694 Phase 4 Dexamethasone oral tablet 8mg (Dexamethasone Krka tablets(8mg), Warsaw, Poland).;Placebo oral sweetener (Clio tablets, sweetener with a dispenser, Instantina GES, Vienna, Austria).
44 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
45 Study of the Reinnervation of Facial Muscles After Lengthening Temporalis Myoplasty Terminated NCT01833221 Phase 4 injection of 1% lidocaine, 2mL for facial nerve block
46 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
47 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
48 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Withdrawn NCT01386255 Phase 4 Baclofen;placebo
49 Safety and Efficacy of Bone Marrow MNC for the Treatment of Cerebral Palsy in Subjects Below Years. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01832454 Phase 2, Phase 3
50 Project:Intensive Habilitation (PIH) -a New Norwegian Multidisciplinary Program for Intensive Training for Children With Disabilities Unknown status NCT00202761 Phase 2, Phase 3

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:

40
Brain, Bone, Testes, Skin, Thyroid, Neutrophil, Spinal Cord

Publications for Papillon-Lefevre Syndrome

Articles related to Papillon-Lefevre Syndrome:

(show top 50) (show all 467)
# Title Authors PMID Year
1
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 6 56 61
11886537 2001
2
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 6 56 61
10593994 1999
3
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 61 6 56
10581027 1999
4
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. 56 61 54
16410452 2006
5
Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. 61 56 54
15585850 2004
6
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 61 6 54
11180012 2001
7
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients. 54 56 61
11106356 2000
8
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. 56 54 61
10662807 2000
9
Ocular surface squamous neoplasia in Papillon-Lefevre syndrome. 61 56
15652859 2005
10
Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. 56 61
12637913 2003
11
Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. 61 56
12509601 2003
12
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. 56 61
9439671 1997
13
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. 61 56
9272739 1997
14
Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. 56 61
7623262 1995
15
Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin. 61 56
2965550 1988
16
The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. 61 56
159254 1979
17
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. 6
10662808 2000
18
Increased collagen synthesis by gingival fibroblasts derived from a Papillon-Lefévre patient. 56
6460047 1982
19
THE SYNDROME OF PALMAR-PLANTAR HYPERKERATOSIS AND PREMATURE PERIODONTAL DESTRUCTION OF THE TEETH. A CLINICAL AND GENETIC ANALYSIS OF THE PAPILLON-LEF'EVRE SYNDROME. 56
14244097 1964
20
HYPERKERATOSIS PALMOPLANTARIS WITH PERIODONTOSIS (PAPILLON-LEFEVRE). 56
14043611 1963
21
[Keratosis palmaris et plantaris with periodontopathy (Papilloni-Lefevre)]. 56
13851749 1959
22
[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome]. 61 54
18841559 2008
23
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. 61 54
15727652 2005
24
Identification of genetic risk factors for periodontitis and possible mechanisms of action. 54 61
16128836 2005
25
Epidermal differentiation: the role of proteases and their inhibitors. 54 61
15679120 2004
26
Cathepsin C involvement in the aetiology of Papillon-Lefevre syndrome. 61 54
15525320 2004
27
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. 54 61
15108292 2004
28
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 54 61
14974080 2004
29
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients. 54 61
11158173 2001
30
A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans. 54 61
10712675 2000
31
Papillon-Lefèvre syndrome: Oral aspects and treatment. 61
32222110 2020
32
Japanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations. 61
32463525 2020
33
Digital prosthodontic management of a young patient with Papillon-Lefèvre syndrome: A clinical report. 61
31353110 2020
34
A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome. 61
31751289 2020
35
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. 61
31846207 2020
36
A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report. 61
31942267 2020
37
Clinical and molecular analysis in Papillon-Lefèvre syndrome. 61
31282082 2019
38
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome. 61
30908832 2019
39
Cu-sil dentures: A novel approach of Papillon-Lefèvre syndrome management. 61
31584033 2019
40
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis. 61
31068678 2019
41
Papillon Lefevre Syndrome. 61
31872409 2019
42
Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study. 61
31244643 2019
43
[Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome]. 61
30854815 2019
44
Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report. 61
31179131 2019
45
Aggregated neutrophil extracellular traps resolve inflammation by proteolysis of cytokines and chemokines and protection from antiproteases. 61
30130433 2019
46
Papillon-Lefevre Syndrome: A case report. 61
29789144 2019
47
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 61
29410039 2018
48
Therapeutic targeting of cathepsin C: from pathophysiology to treatment. 61
29842917 2018
49
[Papillon-Lefevre syndrome complicated with liver abscess]. 61
30180413 2018
50
Papillon-Lefèvre syndrome. 61
30156642 2018

Variations for Papillon-Lefevre Syndrome

ClinVar genetic disease variations for Papillon-Lefevre Syndrome:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTSC NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)indel Pathogenic 690367 11:88029327-88029329 11:88296159-88296161
2 CTSC NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)SNV Pathogenic 839668 11:88068220-88068220 11:88335052-88335052
3 CTSC NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)SNV Pathogenic 7292 11:88029334-88029334 11:88296166-88296166
4 CTSC NM_001814.6(CTSC):c.1047del (p.Gly350fs)deletion Pathogenic 7293 11:88027519-88027519 11:88294351-88294351
5 CTSC NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)SNV Pathogenic 7296 11:88070725-88070725 11:88337557-88337557
6 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)SNV Pathogenic 7297 11:88027665-88027665 11:88294497-88294497
7 CTSC NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)SNV Pathogenic 7298 11:88027279-88027279 11:88294111-88294111
8 CTSC NM_001814.6(CTSC):c.380A>C (p.His127Pro)SNV Pathogenic 7299 11:88045661-88045661 11:88312493-88312493
9 CTSC NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)SNV Pathogenic 7301 rs104894211 11:88027526-88027526 11:88294358-88294358
10 CTSC NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)deletion Pathogenic 139654 11:88027510-88027510 11:88294342-88294342
11 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)SNV Pathogenic 139655 11:88070745-88070745 11:88337577-88337577
12 CTSC NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)SNV Pathogenic 7289 11:88042344-88042344 11:88309176-88309176
13 CTSC NM_001814.6(CTSC):c.890-1G>ASNV Pathogenic 7290 11:88027677-88027677 11:88294509-88294509
14 CTSC NM_001814.6(CTSC):c.755A>T (p.Gln252Leu)SNV Likely pathogenic 7291 rs104894207 11:88033700-88033700 11:88300532-88300532
15 CTSC NM_001814.6(CTSC):c.855dup (p.Gln286fs)duplication Likely pathogenic 575092 11:88029334-88029335 11:88296166-88296167
16 CTSC NM_001814.6(CTSC):c.319-15C>TSNV Conflicting interpretations of pathogenicity 258190 rs45539936 11:88045737-88045737 11:88312569-88312569
17 CTSC NM_001814.6(CTSC):c.948G>C (p.Leu316=)SNV Conflicting interpretations of pathogenicity 306422 rs145373075 11:88027618-88027618 11:88294450-88294450
18 CTSC NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)SNV Conflicting interpretations of pathogenicity 306417 rs143736590 11:88027252-88027252 11:88294084-88294084
19 CTSC NM_001814.6(CTSC):c.815G>A (p.Arg272His)SNV Conflicting interpretations of pathogenicity 139656 rs587777534 11:88029375-88029375 11:88296207-88296207
20 CTSC NM_001814.6(CTSC):c.173-19dupduplication Conflicting interpretations of pathogenicity 306431 rs11326739 11:88068256-88068257 11:88335088-88335089
21 CTSC NM_001814.5(CTSC):c.-80G>CSNV Uncertain significance 306440 rs758293258 11:88070920-88070920 11:88337752-88337752
22 CTSC NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)SNV Uncertain significance 306423 rs748729285 11:88029318-88029318 11:88296150-88296150
23 CTSC NM_001814.6(CTSC):c.757+6A>TSNV Uncertain significance 306425 rs886048741 11:88033692-88033692 11:88300524-88300524
24 CTSC NM_001814.6(CTSC):c.729C>T (p.Ile243=)SNV Uncertain significance 306426 rs766063253 11:88033726-88033726 11:88300558-88300558
25 CTSC NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys)SNV Uncertain significance 306428 rs763656343 11:88042463-88042463 11:88309295-88309295
26 CTSC NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys)SNV Uncertain significance 306418 rs201519830 11:88027372-88027372 11:88294204-88294204
27 CTSC NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys)SNV Uncertain significance 306420 rs886048738 11:88027443-88027443 11:88294275-88294275
28 CTSC NM_001814.6(CTSC):c.850A>G (p.Ser284Gly)SNV Uncertain significance 306424 rs886048740 11:88029340-88029340 11:88296172-88296172
29 CTSC NM_001814.6(CTSC):c.29C>T (p.Ala10Val)SNV Uncertain significance 306432 rs765499436 11:88070812-88070812 11:88337644-88337644
30 CTSC NM_001814.6(CTSC):c.*414A>GSNV Uncertain significance 884105 11:88026760-88026760 11:88293592-88293592
31 CTSC NM_001814.6(CTSC):c.*381A>GSNV Uncertain significance 884106 11:88026793-88026793 11:88293625-88293625
32 CTSC NM_001814.6(CTSC):c.*350A>GSNV Uncertain significance 884107 11:88026824-88026824 11:88293656-88293656
33 CTSC NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys)SNV Uncertain significance 880809 11:88027242-88027242 11:88294074-88294074
34 CTSC NM_001814.6(CTSC):c.1097A>T (p.His366Leu)SNV Uncertain significance 882454 11:88027469-88027469 11:88294301-88294301
35 CTSC NM_001814.6(CTSC):c.1094T>C (p.Val365Ala)SNV Uncertain significance 882455 11:88027472-88027472 11:88294304-88294304
36 CTSC NM_001814.6(CTSC):c.1038C>T (p.His346=)SNV Uncertain significance 882456 11:88027528-88027528 11:88294360-88294360
37 CTSC NM_001814.6(CTSC):c.386T>A (p.Val129Glu)SNV Uncertain significance 882503 11:88045655-88045655 11:88312487-88312487
38 CTSC NM_001814.6(CTSC):c.81T>G (p.Pro27=)SNV Uncertain significance 883295 11:88070760-88070760 11:88337592-88337592
39 CTSC NM_001814.6(CTSC):c.12G>A (p.Gly4=)SNV Uncertain significance 883296 11:88070829-88070829 11:88337661-88337661
40 CTSC NM_001814.6(CTSC):c.-49C>TSNV Uncertain significance 882291 11:88070889-88070889 11:88337721-88337721
41 CTSC NM_001814.6(CTSC):c.-55C>TSNV Uncertain significance 882292 11:88070895-88070895 11:88337727-88337727
42 CTSC NM_001814.6(CTSC):c.954A>G (p.Glu318=)SNV Uncertain significance 306421 rs886048739 11:88027612-88027612 11:88294444-88294444
43 CTSC NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)SNV Uncertain significance 306429 rs142378484 11:88068160-88068160 11:88334992-88334992
44 CTSC NM_001814.6(CTSC):c.173-6deldeletion Uncertain significance 306430 rs372892181 11:88068256-88068256 11:88335088-88335088
45 CTSC NM_001814.6(CTSC):c.-7C>ASNV Uncertain significance 306434 rs770352776 11:88070847-88070847 11:88337679-88337679
46 CTSC NM_001814.6(CTSC):c.-23C>GSNV Uncertain significance 306435 rs886048743 11:88070863-88070863 11:88337695-88337695
47 CTSC NM_001814.6(CTSC):c.-48G>ASNV Uncertain significance 306437 rs200415443 11:88070888-88070888 11:88337720-88337720
48 CTSC NM_001814.6(CTSC):c.642-15A>GSNV Uncertain significance 880876 11:88033828-88033828 11:88300660-88300660
49 CTSC NM_001814.6(CTSC):c.318+4A>GSNV Uncertain significance 882504 11:88068101-88068101 11:88334933-88334933
50 CTSC NM_001814.6(CTSC):c.1145A>G (p.His382Arg)SNV Uncertain significance 623339 11:88027421-88027421 11:88294253-88294253

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

73 (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 rs104470373
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 rs148475875
22 CTSC p.Glu319Gly VAR_019046 rs129423322
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

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:

36
# 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
12.28 ITGAL ELANE CTSG CMA1
2 11.54 SLC17A5 CTSG CTSC
3
Show member pathways
11.35 PRTN3 ELANE CTSG CCR6 CAMP
4
Show member pathways
11.33 ELANE CTSG CMA1
5 11.11 ITGAL HLA-DRB1 CAMP

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 extracellular exosome GO:0070062 9.92 PRTN3 ITGAL HLA-DRB1 ELANE CTSG CTSC
2 extracellular space GO:0005615 9.81 PRTN3 PRSS57 HLA-DRB1 ELANE CTSG CTSC
3 cell surface GO:0009986 9.77 ITGAL HLA-DRB1 ELANE CTSG CCR6
4 lysosome GO:0005764 9.73 SLC17A5 HLA-DRB1 CTSC CST7
5 collagen-containing extracellular matrix GO:0062023 9.65 PRTN3 ELANE CTSG CTSC CMA1
6 extracellular region GO:0005576 9.65 SPINK5 PRTN3 PRSS57 ELANE CTSG CTSC
7 secretory granule GO:0030141 9.58 ELANE CTSG CMA1
8 azurophil granule lumen GO:0035578 9.02 PRTN3 PRSS57 ELANE CTSG CTSC

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.72 HLA-DRB1 CTSG CTSC CST7 CCR6
2 proteolysis GO:0006508 9.7 PRTN3 PRSS57 GZMB ELANE CTSG CTSC
3 negative regulation of peptidase activity GO:0010466 9.65 SPINK5 CST7 CST6
4 phagocytosis GO:0006909 9.54 PRTN3 ITGAL ELANE
5 positive regulation of immune response GO:0050778 9.46 ELANE CTSG
6 angiotensin maturation GO:0002003 9.43 CTSG CMA1
7 extracellular matrix disassembly GO:0022617 9.43 ELANE CTSG CMA1
8 leukocyte migration involved in inflammatory response GO:0002523 9.4 ELANE CCR6
9 antimicrobial humoral response GO:0019730 9.26 PRTN3 ELANE CTSG CAMP
10 neutrophil degranulation GO:0043312 9.17 SIGLEC5 PRTN3 ITGAL ELANE CTSG CTSC

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 9.8 PRTN3 PRSS57 GZMB ELANE CTSG CTSC
2 peptidase activity GO:0008233 9.7 PRTN3 PRSS57 GZMB ELANE CTSG CTSC
3 heparin binding GO:0008201 9.54 PRSS57 ELANE CTSG
4 peptidase inhibitor activity GO:0030414 9.5 SPINK5 CST7 CST6
5 serine-type peptidase activity GO:0008236 9.43 PRTN3 PRSS57 GZMB ELANE CTSG CMA1
6 serine-type endopeptidase activity GO:0004252 9.17 PRTN3 PRSS57 GZMB ELANE CTSG CTSC

Sources for Papillon-Lefevre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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