PALS
MCID: PPL049
MIFTS: 63

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 57 59 74 37 13 55 40
Papillon-Lefèvre Syndrome 75 53 29 6
Papillon-Lefevre Disease 12 44 15 72
Keratosis Palmoplantaris with Periodontopathia 57 53 74
Pls 57 59 74
Keratosis Palmoplantar-Periodontopathy Syndrome 53 59
Papillon Lefevre Syndrome 12 53
Pals 57 74
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
Palsy 17

Characteristics:

Orphanet epidemiological data:

59
papillon-lefevre 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:

Disease Ontology 12 DOID:3389
OMIM 57 245000
KEGG 37 H00274
MeSH 44 D010214
NCIt 50 C84992
SNOMED-CT 68 40158001
MESH via Orphanet 45 D010214
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0030360
Orphanet 59 ORPHA678
MedGen 42 C0030360
UMLS 72 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: 678DefinitionPapillon-Lefevre 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 (Vorner), 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-lefèvre syndrome, is related to gingivitis and vasculitis. 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 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 : 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)

KEGG : 37
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 : 74 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 : 75 Papillon-Lefevre 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 2023)
# Related Disease Score Top Affiliating Genes
1 gingivitis 30.2 ELANE CTSG
2 vasculitis 29.9 ELANE CTSG
3 granulomatosis with polyangiitis 28.9 ELANE CTSG
4 autoimmune vasculitis 28.6 ELANE CTSG
5 bronchiectasis 28.5 ELANE CTSG
6 cerebral palsy 12.9
7 bell's palsy 12.8
8 cerebral palsy, ataxic, autosomal recessive 12.7
9 neuropathy, hereditary, with liability to pressure palsies 12.7
10 fourth cranial nerve palsy, familial congenital 12.6
11 dyskinetic cerebral palsy 12.6
12 spastic diplegia cerebral palsy 12.6
13 spastic cerebral palsy 12.6
14 conjugate gaze palsy 12.6
15 progressive bulbar palsy 12.6
16 cerebral palsy, spastic quadriplegic, 1 12.5
17 horizontal gaze palsy with progressive scoliosis 12.5
18 fourth cranial nerve palsy 12.5
19 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 12.5
20 cerebral palsy, spastic quadriplegic, 2 12.5
21 arthrogryposis, perthes disease, and upward gaze palsy 12.5
22 pseudobulbar palsy 12.5
23 cerebral palsy, spastic quadriplegic, 3 12.5
24 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 12.5
25 gaze palsy, familial horizontal, with progressive scoliosis 1 12.5
26 primary lateral sclerosis, adult, 1 12.4
27 mixed cerebral palsy 12.4
28 spastic quadriplegia 12.4
29 congenital trochlear nerve palsy 12.4
30 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 12.4
31 facial palsy, familial recurrent peripheral 12.4
32 abducens nerve disease 12.4
33 spastic hemiplegia 12.3
34 supranuclear ocular palsy 12.3
35 congenital laryngeal palsy 12.3
36 cranial nerve palsy 12.3
37 spastic diplegia 12.3
38 partial third-nerve palsy 12.3
39 multiple cranial nerve palsy 12.3
40 total third-nerve palsy 12.3
41 cerebral palsy athetoid 12.3
42 erb-duchenne and dejerine-klumpke palsies 12.3
43 abducens palsy 12.3
44 congenital abducens nerve palsy 12.3
45 platelet groups--pl system 12.2
46 tibial nerve palsy 12.2
47 supranuclear palsy, progressive, 2 12.2
48 deafness, conductive stapedial, with ear malformation and facial palsy 12.2
49 supranuclear palsy, progressive, 3 12.2
50 facial paralysis 12.2

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:

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

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

Drugs & Therapeutics for Papillon-Lefevre Syndrome

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

(show top 50) (show all 452)
# 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 5908-99-6, 51-55-8 174174
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
Sodium citrate Approved, Investigational Phase 4 68-04-2
9
Caffeine Approved Phase 4 58-08-2 2519
10
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
11
Promethazine Approved, Investigational Phase 4 60-87-7 4927
12
Suvorexant Approved, Investigational Phase 4 1030377-33-3
13
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
14
Zolpidem Approved Phase 4 82626-48-0 5732
15
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
16
Acetaminophen Approved Phase 4 103-90-2 1983
17
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
18
Methadone Approved, Illicit Phase 4 76-99-3 4095
19
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
20
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
21
Iodine Approved, Investigational Phase 4 7553-56-2 807
22
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
23
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
24
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
25
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
26
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
27
Cortisone Experimental Phase 4 53-06-5 222786
28 Platelet Aggregation Inhibitors Phase 4
29 Anesthetics, Inhalation Phase 4
30 Cholinesterase Inhibitors Phase 4
31 Parasympatholytics Phase 4
32 Cholinergic Antagonists Phase 4
33 Muscarinic Antagonists Phase 4
34 Adjuvants, Anesthesia Phase 4
35 calcium heparin Phase 4
36 Neuromuscular Nondepolarizing Agents Phase 4
37 Neuromuscular Blocking Agents Phase 4
38 incobotulinumtoxinA Phase 4
39 valacyclovir Phase 4
40 Cyclooxygenase Inhibitors Phase 4
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4
42 Sunflower Phase 4
43 Acidophilus Phase 4
44 Central Nervous System Stimulants Phase 4
45 Citrate Phase 4
46 Purinergic P1 Receptor Antagonists Phase 4
47 Phosphodiesterase Inhibitors Phase 4
48 Chelating Agents Phase 4
49 Anticoagulants Phase 4
50 Caffeine citrate Phase 4

Interventional clinical trials:

(show top 50) (show all 1265)
# 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 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
5 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
6 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
7 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
8 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
9 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
10 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
11 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
12 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)
13 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
14 SPREAD AND EFFECTIVENESS OF BOTULINUM NEUROTOXIN A IN SPASTIC EQUINUS IN CEREBRAL PALSY:SHORT-TERM STUDY Completed NCT01276015 Phase 4 Botulinum Toxin Type A
15 Effect of Erythropoietin on Preterm Brain Injury Completed NCT02036073 Phase 4 recombinant human erythropoietin
16 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
17 Effect of Magnesium Sulfate on the Incidence of Periventricular Leukomalacia in the Very Preterm Neonate Completed NCT00120588 Phase 4 magnesium
18 Real-Time Assessment of Cryoballoon Pulmonary Vein Isolation Using a Novel Circular Mapping Catheter Completed NCT01448265 Phase 4
19 Magnetic Resonance Imaging and Neurodevelopmental Outcomes in Preterm Infants Following Administration of High-Dose Caffeine - A Pilot Study Completed NCT00809055 Phase 4 Caffeine citrate
20 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
21 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
22 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
23 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
24 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
25 Treatment of Disturbed Sleep in Progressive Supranuclear Palsy (PSP) Recruiting NCT04014387 Phase 4 Suvorexant;Zolpidem;Placebo oral capsule
26 Effects of Various Volume of Local Anaesthetic Use for Ultrasound Guided Supraclavicular Brachial Plexus Block on Successful Blockade and Diaphragmatic Motility. Recruiting NCT03476694 Phase 4
27 Does Saline Injection Around Phrenic Nerve Reduce Incidence of Diaphragmatic Paresis Following Interscalene Block? Recruiting NCT02893228 Phase 4 Levobupivacaine
28 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
29 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
30 Methadone and Interscalene Block for Shoulder Surgery Recruiting NCT03084588 Phase 4 methadone
31 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Active, not recruiting NCT02633241 Phase 4 Dexmedetomidine-Propofol
32 Effectiveness of Armeo Spring Pediatric in Children With Narakas I Obstetric Brachial Plexus Injury Active, not recruiting NCT03780322 Phase 4
33 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
34 Efficacy of Intravenous Lidocaine in the Operative Management of Thyroid Surgery With Intraoperative Nerve Monitoring Active, not recruiting NCT02479789 Phase 4 Lidocaine;Placebo
35 ORthopaedic Trauma Anemia With Conservative Versus Liberal Transfusion Enrolling by invitation NCT02972593 Phase 4
36 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
37 Reducing Neonatal Morbidity by Discontinuing Oxytocin During the Active Phase of 1st Stage of Labor: a Multicenter Randomized Controlled Trial Not yet recruiting NCT03991091 Phase 4 discontinuation of oxytocin administration;continuation of oxytocin administration
38 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
39 Study of the Reinnervation of Facial Muscles After Lengthening Temporalis Myoplasty Terminated NCT01833221 Phase 4 injection of 1% lidocaine, 2mL for facial nerve block
40 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
41 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)
42 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Withdrawn NCT01386255 Phase 4 Baclofen;placebo
43 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
44 Project:Intensive Habilitation (PIH) -a New Norwegian Multidisciplinary Program for Intensive Training for Children With Disabilities Unknown status NCT00202761 Phase 2, Phase 3
45 Phase 2/3 Application of Botulinum Neurotoxin Type A in Salivary Glands as a Treatment of Chronic Drooling in Patients With Cerebral Palsy: A Controlled Clinical Trial. Unknown status NCT01489904 Phase 2, Phase 3
46 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
47 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
48 Modulation of Brain Plasticity After Perinatal Stroke: The PLASTIC CHAMPS Trial Unknown status NCT01189058 Phase 2, Phase 3
49 A CLINICAL STUDY TO EVALUATE THE EFFICACY OF CAUSTICUM 200C IN THE TREATMENT OF PRIMARY ENURESIS Unknown status NCT02154152 Phase 3 Homoeopathic Medicine causticum 200c
50 Effectiveness of Vojta Therapy in Motor Development of Preterm Children Unknown status NCT01838278 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:

41
Brain, Bone, Testes, Skin, Thyroid, Neutrophil, Liver

Publications for Papillon-Lefevre Syndrome

Articles related to Papillon-Lefevre Syndrome:

(show top 50) (show all 460)
# 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. 38 8 71
11886537 2001
2
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 38 8 71
10581027 1999
3
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 38 8 71
10593994 1999
4
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. 9 38 8
16410452 2006
5
Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. 9 38 8
15585850 2004
6
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 9 38 71
11180012 2001
7
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients. 9 38 8
11106356 2000
8
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. 9 38 8
10662807 2000
9
Ocular surface squamous neoplasia in Papillon-Lefevre syndrome. 38 8
15652859 2005
10
Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. 38 8
12637913 2003
11
Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. 38 8
12509601 2003
12
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. 38 8
9439671 1997
13
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. 38 8
9272739 1997
14
Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. 38 8
7623262 1995
15
Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin. 38 8
2965550 1988
16
The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. 38 8
159254 1979
17
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. 71
10662808 2000
18
Increased collagen synthesis by gingival fibroblasts derived from a Papillon-Lefévre patient. 8
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. 8
14244097 1964
20
HYPERKERATOSIS PALMOPLANTARIS WITH PERIODONTOSIS (PAPILLON-LEFEVRE). 8
14043611 1963
21
[Keratosis palmaris et plantaris with periodontopathy (Papilloni-Lefevre)]. 8
13851749 1959
22
[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome]. 9 38
18841559 2008
23
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. 9 38
15727652 2005
24
Identification of genetic risk factors for periodontitis and possible mechanisms of action. 9 38
16128836 2005
25
Epidermal differentiation: the role of proteases and their inhibitors. 9 38
15679120 2004
26
Cathepsin C involvement in the aetiology of Papillon-Lefevre syndrome. 9 38
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. 9 38
15108292 2004
28
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 9 38
14974080 2004
29
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients. 9 38
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. 9 38
10712675 2000
31
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome. 38
30908832 2019
32
Clinical and molecular analysis in Papillon-Lefèvre syndrome. 38
31282082 2019
33
Digital prosthodontic management of a young patient with Papillon-Lefèvre syndrome: A clinical report. 38
31353110 2019
34
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis. 38
31068678 2019
35
Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study. 38
31244643 2019
36
[Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome]. 38
30854815 2019
37
Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report. 38
31179131 2019
38
Aggregated neutrophil extracellular traps resolve inflammation by proteolysis of cytokines and chemokines and protection from antiproteases. 38
30130433 2019
39
Papillon-Lefevre Syndrome: A case report. 38
29789144 2019
40
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 38
29410039 2018
41
Therapeutic targeting of cathepsin C: from pathophysiology to treatment. 38
29842917 2018
42
[Papillon-Lefevre syndrome complicated with liver abscess]. 38
30180413 2018
43
Papillon-Lefèvre syndrome. 38
30156642 2018
44
Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis. 38
29925593 2018
45
Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature. 38
30397382 2018
46
A Rare Presentation of Psychotic Depression with Suicidality in a Case of Papillon-Lefèvre Syndrome. 38
30093750 2018
47
Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions. 38
29926500 2018
48
Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions. 38
29926943 2018
49
Case Report: Clinical manifestation and dental management of Papillon-Lefèvre syndrome. 38
30356436 2018
50
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome? 38
29142767 2017

Variations for Papillon-Lefevre Syndrome

ClinVar genetic disease variations for Papillon-Lefevre Syndrome:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTSC NM_001814.6(CTSC): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic 11:88042344-88042344 11:88309176-88309176
2 CTSC NM_001814.6(CTSC): c.890-1G> A single nucleotide variant Pathogenic 11:88027677-88027677 11:88294509-88294509
3 CTSC NM_001814.6(CTSC): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic 11:88029334-88029334 11:88296166-88296166
4 CTSC NM_001814.6(CTSC): c.1047del (p.Gly350fs) deletion Pathogenic 11:88027519-88027519 11:88294351-88294351
5 CTSC NM_001814.6(CTSC): c.116G> C (p.Trp39Ser) single nucleotide variant Pathogenic 11:88070725-88070725 11:88337557-88337557
6 CTSC NM_001814.6(CTSC): c.901G> A (p.Gly301Ser) single nucleotide variant Pathogenic 11:88027665-88027665 11:88294497-88294497
7 CTSC NM_001814.6(CTSC): c.1287G> C (p.Trp429Cys) single nucleotide variant Pathogenic 11:88027279-88027279 11:88294111-88294111
8 CTSC NM_001814.6(CTSC): c.380A> C (p.His127Pro) single nucleotide variant Pathogenic 11:88045661-88045661 11:88312493-88312493
9 CTSC NM_001814.6(CTSC): c.1040A> G (p.Tyr347Cys) single nucleotide variant Pathogenic rs104894211 11:88027526-88027526 11:88294358-88294358
10 CTSC NM_001814.6(CTSC): c.1056del (p.Phe351_Tyr352insTer) deletion Pathogenic 11:88027510-88027510 11:88294342-88294342
11 CTSC NM_001814.6(CTSC): c.96T> G (p.Tyr32Ter) single nucleotide variant Pathogenic 11:88070745-88070745 11:88337577-88337577
12 CTSC NM_001814.6(CTSC): c.755A> T (p.Gln252Leu) single nucleotide variant Likely pathogenic rs104894207 11:88033700-88033700 11:88300532-88300532
13 CTSC NM_001814.6(CTSC): c.855dup (p.Gln286fs) duplication Likely pathogenic 11:88029335-88029335 11:88296167-88296167
14 CTSC NM_001814.6(CTSC): c.1145A> G (p.His382Arg) single nucleotide variant Uncertain significance 11:88027421-88027421 11:88294253-88294253
15 CTSC NM_001814.6(CTSC): c.1392G> A (p.Ter464=) single nucleotide variant Uncertain significance 11:88027174-88027174 11:88294006-88294006
16 CTSC NM_001814.6(CTSC): c.1345G> A (p.Ala449Thr) single nucleotide variant Uncertain significance 11:88027221-88027221 11:88294053-88294053
17 CTSC NM_001814.6(CTSC): c.1325G> A (p.Arg442His) single nucleotide variant Uncertain significance 11:88027241-88027241 11:88294073-88294073
18 CTSC NM_001814.6(CTSC): c.1303G> A (p.Glu435Lys) single nucleotide variant Uncertain significance 11:88027263-88027263 11:88294095-88294095
19 CTSC NM_001814.6(CTSC): c.1201G> A (p.Glu401Lys) single nucleotide variant Uncertain significance 11:88027365-88027365 11:88294197-88294197
20 CTSC NM_001814.6(CTSC): c.1194C> A (p.Asn398Lys) single nucleotide variant Uncertain significance 11:88027372-88027372 11:88294204-88294204
21 CTSC NM_001814.6(CTSC): c.953A> G (p.Glu318Gly) single nucleotide variant Uncertain significance 11:88027613-88027613 11:88294445-88294445
22 CTSC NM_001814.6(CTSC): c.923G> A (p.Gly308Glu) single nucleotide variant Uncertain significance 11:88027643-88027643 11:88294475-88294475
23 CTSC NM_001814.6(CTSC): c.910T> A (p.Tyr304Asn) single nucleotide variant Uncertain significance 11:88027656-88027656 11:88294488-88294488
24 CTSC NM_001814.6(CTSC): c.790A> G (p.Met264Val) single nucleotide variant Uncertain significance 11:88029400-88029400 11:88296232-88296232
25 CTSC NM_001814.6(CTSC): c.395G> A (p.Arg132Gln) single nucleotide variant Uncertain significance 11:88045646-88045646 11:88312478-88312478
26 CTSC NM_001814.6(CTSC): c.364A> G (p.Met122Val) single nucleotide variant Uncertain significance 11:88045677-88045677 11:88312509-88312509
27 CTSC NM_001814.6(CTSC): c.308C> T (p.Ala103Val) single nucleotide variant Uncertain significance 11:88068115-88068115 11:88334947-88334947
28 CTSC NM_001814.6(CTSC): c.37C> A (p.Leu13Met) single nucleotide variant Uncertain significance 11:88070804-88070804 11:88337636-88337636
29 CTSC NM_001814.6(CTSC): c.757+5A> G single nucleotide variant Uncertain significance 11:88033693-88033693 11:88300525-88300525
30 CTSC NM_001814.6(CTSC): c.299A> G (p.Lys100Arg) single nucleotide variant Uncertain significance 11:88068124-88068124 11:88334956-88334956
31 CTSC NM_001814.6(CTSC): c.1289G> A (p.Gly430Asp) single nucleotide variant Uncertain significance 11:88027277-88027277 11:88294109-88294109
32 CTSC NM_001814.6(CTSC): c.844A> G (p.Ile282Val) single nucleotide variant Uncertain significance 11:88029346-88029346 11:88296178-88296178
33 CTSC NM_001814.6(CTSC): c.71G> A (p.Cys24Tyr) single nucleotide variant Uncertain significance 11:88070770-88070770 11:88337602-88337602
34 CTSC NM_001814.6(CTSC): c.259A> G (p.Ile87Val) single nucleotide variant Uncertain significance rs45447392 11:88068164-88068164 11:88334996-88334996
35 CTSC NM_001814.6(CTSC): c.815G> A (p.Arg272His) single nucleotide variant Uncertain significance rs587777534 11:88029375-88029375 11:88296207-88296207
36 CTSC NM_001814.6(CTSC): c.*279A> G single nucleotide variant Uncertain significance rs146045268 11:88026895-88026895 11:88293727-88293727
37 CTSC NM_001814.6(CTSC): c.*253T> C single nucleotide variant Uncertain significance rs116618365 11:88026921-88026921 11:88293753-88293753
38 CTSC NM_001814.6(CTSC): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs886048739 11:88027612-88027612 11:88294444-88294444
39 CTSC NM_001814.6(CTSC): c.948G> C (p.Leu316=) single nucleotide variant Uncertain significance rs145373075 11:88027618-88027618 11:88294450-88294450
40 CTSC NM_001814.6(CTSC): c.263A> G (p.Tyr88Cys) single nucleotide variant Uncertain significance rs142378484 11:88068160-88068160 11:88334992-88334992
41 CTSC NM_001814.6(CTSC): c.173-6del deletion Uncertain significance rs372892181 11:88068256-88068256 11:88335088-88335088
42 CTSC NM_001814.6(CTSC): c.-7C> A single nucleotide variant Uncertain significance rs770352776 11:88070847-88070847 11:88337679-88337679
43 CTSC NM_001814.6(CTSC): c.-23C> G single nucleotide variant Uncertain significance rs886048743 11:88070863-88070863 11:88337695-88337695
44 CTSC NM_001814.6(CTSC): c.-48G> A single nucleotide variant Uncertain significance rs200415443 11:88070888-88070888 11:88337720-88337720
45 CTSC NM_001814.6(CTSC): c.1314C> T (p.Tyr438=) single nucleotide variant Uncertain significance rs143736590 11:88027252-88027252 11:88294084-88294084
46 CTSC NM_001814.6(CTSC): c.1146C> T (p.His382=) single nucleotide variant Uncertain significance rs45558734 11:88027420-88027420 11:88294252-88294252
47 CTSC NM_001814.6(CTSC): c.729C> T (p.Ile243=) single nucleotide variant Uncertain significance rs766063253 11:88033726-88033726 11:88300558-88300558
48 CTSC NM_001814.6(CTSC): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs763656343 11:88042463-88042463 11:88309295-88309295
49 CTSC NM_001814.6(CTSC): c.-45C> G single nucleotide variant Uncertain significance rs181685520 11:88070885-88070885 11:88337717-88337717
50 CTSC NM_001814.6(CTSC): c.1194C> G (p.Asn398Lys) single nucleotide variant Uncertain significance rs201519830 11:88027372-88027372 11:88294204-88294204

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

74 (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:

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 HLA-DRB1 GZMB
2 11.17 HLA-DRB1 CTSC
3
Show member pathways
10.95 ELANE CTSG
4 10.89 SLC17A5 CTSG CTSC

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 9.65 HLA-DRB1 ELANE DPYS CTSG CTSC
2 cell surface GO:0009986 9.54 HLA-DRB1 ELANE CTSG
3 lysosome GO:0005764 9.5 SLC17A5 HLA-DRB1 CTSC
4 collagen-containing extracellular matrix GO:0062023 9.33 ELANE CTSG CTSC
5 secretory granule GO:0030141 8.96 ELANE CTSG
6 azurophil granule lumen GO:0035578 8.8 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 9.61 HLA-DRB1 CTSG CTSC
2 neutrophil degranulation GO:0043312 9.58 ELANE CTSG CTSC
3 proteolysis GO:0006508 9.46 GZMB ELANE CTSG CTSC
4 extracellular matrix disassembly GO:0022617 9.37 ELANE CTSG
5 antimicrobial humoral response GO:0019730 9.32 ELANE CTSG
6 defense response to fungus GO:0050832 9.26 ELANE CTSG
7 negative regulation of growth of symbiont in host GO:0044130 8.96 ELANE CTSG
8 positive regulation of immune response GO:0050778 8.62 ELANE CTSG

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 9.65 GZMB ELANE DPYS CTSG CTSC
2 serine-type peptidase activity GO:0008236 9.33 GZMB ELANE CTSG
3 peptidase activity GO:0008233 9.26 GZMB ELANE CTSG CTSC
4 serine-type endopeptidase activity GO:0004252 8.92 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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