PALS
MCID: PPL049
MIFTS: 70

Papillon-Lefevre Syndrome (PALS)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Papillon-Lefevre Syndrome

MalaCards integrated aliases for Papillon-Lefevre Syndrome:

Name: Papillon-Lefevre Syndrome 57 58 73 12 53 38
Papillon-Lefèvre Syndrome 19 75 28 5
Papillon-Lefevre Disease 11 43 14 71
Keratosis Palmoplantaris with Periodontopathia 57 19 73
Pls 57 58 73
Keratosis Palmoplantar-Periodontopathy Syndrome 19 58
Papillon Lefevre Syndrome 11 19
Pals 57 73
Palmar-Plantar Hyperkeratosis and Concomitant Periodontal Destruction 19
Hyperkeratosis Palmoplantaris with Periodontosis 19
Keratoris Palmoplantaris with Periodontopathia 19
Palmoplantar Keratoderma with Periodontosis 19
Keratosis Palmoplantar - Periodontopathy 19
Papillon-Lefvre Syndrome 11
Palsy 16

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy,Neonatal 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:3389
OMIM® 57 245000
MeSH 43 D010214
NCIt 49 C84992
SNOMED-CT 68 40158001
MESH via Orphanet 44 D010214
ICD10 via Orphanet 32 Q82.8
UMLS via Orphanet 72 C0030360
Orphanet 58 ORPHA678
MedGen 40 C0030360
UMLS 71 C0030360

Summaries for Papillon-Lefevre Syndrome

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Papillon-Lefevre Syndrome, also known as papillon-lefèvre syndrome, is related to periodontitis and dermatophytosis. An important gene associated with Papillon-Lefevre Syndrome is CTSC (Cathepsin C), and among its related pathways/superpathways are Innate Immune System and Extracellular matrix organization. The drugs Acetaminophen and Propofol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and brain, and related phenotypes are palmoplantar keratoderma and abnormal fingernail morphology

Disease Ontology: 11 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) (Updated 08-Dec-2022)

GARD: 19 Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

Orphanet: 58 Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

Wikipedia: 75 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 2410)
# Related Disease Score Top Affiliating Genes
1 periodontitis 31.6 SIGLEC5 ELANE CTSC
2 dermatophytosis 30.7 CCR6 CAMP
3 periodontitis, aggressive, 1 30.4 ITGB2 ELANE CTSC
4 adult respiratory distress syndrome 30.4 ELANE CTSG CCR6
5 infective endocarditis 30.4 SIGLEC5 PRTN3 CCR6
6 sjogren syndrome 30.2 PRTN3 GZMB CCR6
7 polyarteritis nodosa 30.0 PRTN3 ITGB2 ITGAL
8 vasculitis 30.0 PRTN3 ITGB2 ELANE CTSG
9 lung disease 29.9 PRTN3 ELANE CTSG CCR6
10 igg4-related disease 29.9 PRTN3 CCR6
11 immune deficiency disease 29.8 SIGLEC5 ITGB2 ITGAL CTSG CCR6
12 skin disease 29.7 SIGLEC5 PRTN3 ITGB2 ITGAL GZMB CCR6
13 middle ear disease 29.6 SIGLEC5 PRTN3 CCR6
14 leukemia, chronic myeloid 29.6 PRTN3 GZMB ELANE CCR6
15 aortitis 29.6 PRTN3 CCR6
16 granulomatosis with polyangiitis 29.5 PRTN3 ITGB2 ELANE CTSG CCR6
17 peritonitis 29.4 PRTN3 ITGB2 ELANE CTSG CMA1
18 autoimmune vasculitis 29.4 PRTN3 ELANE CCR6
19 human immunodeficiency virus infectious disease 29.4 ITGAL GZMB CCR6
20 aphthous stomatitis 29.4 SIGLEC5 PRTN3 CCR6
21 pulmonary disease, chronic obstructive 29.4 SIGLEC5 PRTN3 ELANE CTSG CCR6
22 central nervous system vasculitis 29.3 PRTN3 CCR6
23 parasitic helminthiasis infectious disease 29.3 SIGLEC5 CTSL CCR6
24 bone inflammation disease 29.3 SIGLEC5 PRTN3 CCR6
25 coronavirus infectious disease 29.3 SIGLEC5 CTSL CCR6
26 aortic aneurysm, familial abdominal, 1 29.3 ELANE CTSL CMA1 CCR6
27 mycobacterium tuberculosis 1 29.2 GZMB CCR6 CAMP
28 impetigo 29.2 PRTN3 ELANE CCR6 CAMP
29 glomerulonephritis 29.1 PRTN3 ITGB2 ITGAL ELANE CTSG
30 pyoderma gangrenosum 29.0 SIGLEC5 ITGB2 CCR6
31 scleritis 29.0 PRTN3 ITGB2 CCR6
32 mycosis fungoides 28.9 ITGB2 ITGAL GZMB CCR6
33 systemic lupus erythematosus 28.8 SIGLEC5 PRTN3 PADI4 ITGB2 ELANE CTSG
34 inflammatory bowel disease 28.6 PRTN3 ITGB2 ITGAL ELANE CTSG CCR6
35 psoriasis 28.5 ITGB2 ITGAL ELANE CCR6 CAMP
36 rheumatoid arthritis 28.3 PRTN3 PADI4 ITGB2 ITGAL GZMB ELANE
37 asthma 28.2 PRTN3 ITGB2 ITGAL GZMB ELANE CMA1
38 cerebral palsy 12.0
39 supranuclear palsy, progressive, 1 11.9
40 bell's palsy 11.9
41 abducens palsy 11.7
42 spastic quadriplegia 11.7
43 cerebral palsy, ataxic, autosomal recessive 11.7
44 spastic cerebral palsy 11.7
45 gaze palsy, familial horizontal, with progressive scoliosis 1 11.6
46 dyskinetic cerebral palsy 11.6
47 spastic hemiplegia 11.6
48 conjugate gaze palsy 11.6
49 spastic diplegia cerebral palsy 11.6
50 fourth cranial nerve palsy 11.6

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

Symptoms via clinical synopsis from OMIM®:

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

MGI Mouse Phenotypes related to Papillon-Lefevre Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.83 CAMP CCR6 CMA1 CTSC CTSG CTSL
2 hematopoietic system MP:0005397 9.5 CAMP CCR6 CMA1 CTSC CTSG CTSL

Drugs & Therapeutics for Papillon-Lefevre Syndrome

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

(show top 50) (show all 279)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Valaciclovir Approved, Investigational Phase 4 124832-27-5, 124832-26-4 60773 135398742
4
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
5
Amitriptyline Approved Phase 4 50-48-6 2160
6
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
7
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
8
Trihexyphenidyl Approved Phase 4 144-11-6 5572
9
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
10
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
11
Topiramate Approved Phase 4 97240-79-4 5284627
12
Tetrabenazine Approved, Investigational Phase 4 58-46-8 6018
13
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
14
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
15
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
16
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
17
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
18
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
19
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
20
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
21
Zolpidem Approved Phase 4 82626-48-0 5732
22
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
23
Suvorexant Approved, Investigational Phase 4 1030377-33-3 57505028 24965990
24
Promethazine Approved, Investigational Phase 4 60-87-7 4927
25
Zoledronic acid Approved Phase 4 118072-93-8 68740
26
Apraclonidine Approved Phase 4 66711-21-5 2216
27
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
28
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
29
Amantadine Approved Phase 4 768-94-5 2130
30
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
31
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
32
Cortisone Experimental Phase 4 53-06-5 222786
33 Antipyretics Phase 4
34
incobotulinumtoxinA Phase 4
35 Gastrointestinal Agents Phase 4
36 Antiemetics Phase 4
37 Psychotropic Drugs Phase 4
38 Anticonvulsants Phase 4
39 calcium channel blockers Phase 4
40 Antidepressive Agents Phase 4
41 Hypnotics and Sedatives Phase 4
42 Anesthetics, General Phase 4
43 Excitatory Amino Acid Antagonists Phase 4
44 Acidophilus Phase 4
45 Sunflower Phase 4
46 Anesthetics, Intravenous Phase 4
47 Antipsychotic Agents Phase 4
48 Sodium Channel Blockers Phase 4
49 Anti-Anxiety Agents Phase 4
50 Antidepressive Agents, Tricyclic Phase 4

Interventional clinical trials:

(show top 50) (show all 1367)
# 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 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Unknown status NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
3 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
4 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
5 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
6 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
7 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
8 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)
9 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Completed NCT02546999 Phase 4 botox;placebo
10 Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children Completed NCT00154830 Phase 4
11 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
12 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
13 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
14 Excessive Crying in Children With Cerebral Palsy and Communication Deficits -a Fixed-sequence, Crossover Clinical Trial Completed NCT04523935 Phase 4 Baclofen, Diazepam, Clonazepam, Trihexyphenidyl, Tetrabenazine, Gabapentin, Topiramate, Lamotrigine, Amitriptyline.
15 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Completed NCT02633241 Phase 4 Dexmedetomidine bolus and infusion-Propofol;Dexmedetomidine bolus only - Propofol
16 SPREAD AND EFFECTIVENESS OF BOTULINUM NEUROTOXIN A IN SPASTIC EQUINUS IN CEREBRAL PALSY:SHORT-TERM STUDY Completed NCT01276015 Phase 4 Botulinum Toxin Type A
17 Does Saline Injection Around Phrenic Nerve Reduce Incidence of Diaphragmatic Paresis Following Interscalene Block? Completed NCT02893228 Phase 4 Levobupivacaine
18 Mixed Methods Investigation of Chronic Facial Paralysis in Individuals With Synkinesis: Study of Outcomes Before and After Treatment Completed NCT04148872 Phase 4 Chemodenervation (4 months)
19 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
20 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
21 Treatment of Disturbed Sleep in Progressive Supranuclear Palsy (PSP) Recruiting NCT04014387 Phase 4 Suvorexant;Zolpidem;Placebo oral capsule
22 Do We Need to Taper Down Steroid Therapy for Bell's Palsy: A Prospective Randomized Controlled Trial Recruiting NCT04406376 Phase 4 Prednisone tablet
23 TOPAZ: Trial of Parkinson's And Zoledronic Acid A Randomized Placebo-controlled Trial of Zoledronic Acid for the Prevention of Fractures in Patients With Parkinson's Disease Recruiting NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
24 Effectiveness of Armeo Spring Pediatric in Children With Narakas I Obstetric Brachial Plexus Injury Active, not recruiting NCT03780322 Phase 4
25 Efficacy of Topical Apraclonidine for the Treatment of Ocular Synkinesis Not yet recruiting NCT05167760 Phase 4 Apraclonidine
26 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
27 Use of Amantadine in Treating Cognitive and Motor Impairments in Adolescents and Adults With Cerebral Palsy Terminated NCT04273737 Phase 4 Amantadine Hydrochloride
28 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
29 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Withdrawn NCT01386255 Phase 4 Baclofen;placebo
30 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
31 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
32 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
33 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Unknown status NCT03110341 Phase 3 Erythropoietin;Normal saline
34 Stimulation for Perinatal Stroke Optimizing Recovery Trajectories Unknown status NCT03216837 Phase 2, Phase 3
35 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
36 Modulation of Brain Plasticity After Perinatal Stroke: The PLASTIC CHAMPS Trial Unknown status NCT01189058 Phase 2, Phase 3
37 A Multicentre, Phase 3, Clinical Study to Compare the Striatal Uptake of a Dopamine Transporter Radioligand, DaTSCAN™ Ioflupane (123I) Injection, After Intravenous Administration to Chinese Patients With a Diagnosis of Parkinson's Disease, Multiple System Atrophy, Progressive Supranuclear Palsy, or Essential Tremor and to Healthy Controls Completed NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
38 Open-label, Non-controlled, Multicenter Long-term Study to Investigate the Safety and Efficacy of Xeomin® (Incobotulinumtoxin A, NT 201) for the Treatment of Spasticity of the Lower Limb(s) or of Combined Spasticity of Upper and Lower Limb in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT01905683 Phase 3 IncobotulinumtoxinA (16-20 Units per kg body weight)
39 Prospective, Multicenter, Randomized, Double-blind, Parallel-group, Dose-response Study of Three Doses Xeomin® (incobotulinumtoxinA, NT 201) for the Treatment of Lower Limb Spasticity in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT01893411 Phase 3 IncobotulinumtoxinA (16 Units per kg body weight);IncobotulinumtoxinA (12 Units per kg body weight);IncobotulinumtoxinA (4 Units per kg body weight)
40 A Six-Month, Multi-Center, Open-Label Study to Assess the Safety and Efficacy of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions Completed NCT00491894 Phase 3 Oral Glycopyrrolate Liquid
41 The Efficacy, Safety and Tolerability of Sativex as an Adjunctive Treatment to Existing Anti-spasticity Medications in Children Aged 8 to 18 Years With Spasticity Due to Cerebral Palsy or Traumatic Central Nervous System Injury Who Have Not Responded Adequately to Their Existing Anti-spasticity Medications: a Parallel Group Randomised, Double-blind, Placebo-controlled Study Followed by a 24-week Open Label Extension Phase Completed NCT01898520 Phase 3 Sativex;Placebo
42 Prospective, Multicenter, Randomized, Double-blind, Parallel-group, Dose-response Study of Three Doses Xeomin® (incobotulinumtoxinA, NT 201) for the Treatment of Upper Limb Spasticity Alone or Combined Upper and Lower Limb Spasticity in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT02002884 Phase 3 IncobotulinumtoxinA (8 Units per kg body weight);IncobotulinumtoxinA (6 Units per kg body weight);IncobotulinumtoxinA (2 Units per kg body weight)
43 Effectiveness of Intermittent Serial Casting on Spastic Wrist Flexion Deformity in Children With Cerebral Palsy Treated By Botulinum Toxin A Completed NCT03306212 Phase 3 Botulinum toxin A
44 Integrated Management With Brain Stimulation and Hybrid Training Enhances Functional Gains in Children With Cerebral Palsy Treated by Botulinum Toxin A Completed NCT03302871 Phase 3 Botulinum toxin type A
45 A Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Completed NCT03813238 Phase 3 Deutetrabenazine;Placebo
46 Assessment of Corticosteroid Effect in the Prevention of Facial Palsy After Cerebella-pontine Angle Surgery Completed NCT00438087 Phase 3 methylprednisolone
47 Botulinum Toxin Efficiency on Spasticity of Rectus Femoris and Semitendinosus Muscles as Functional Agonist and Antagonist Muscles. Assessment of Efficiency of Botulinum Toxin on Spasticity in Agonist and Antagonist Muscles Using Clinical Assessment and Gait Analysis in Cerebral Palsy Children: Rectus Femoris and Semitendinosus Completed NCT00133861 Phase 2, Phase 3 Botulinum toxin
48 A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3 Davunetide;Placebo
49 Intrathecal Baclofen. Evaluation of a Therapy for Refractory Spasticity in Children With Cerebral Palsy Completed NCT00367068 Phase 3 baclofen, intrathecal
50 Efficacy and Functional Outcomes of Botulinum Toxin A Injections to Hamstrings in Flexed Knee Gait in Cerebral Palsy: A Double-Blind, Randomized, Placebo-Controlled Trial Completed NCT00261131 Phase 3 Botulinum Toxin A

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 28 CTSC

Anatomical Context for Papillon-Lefevre Syndrome

Organs/tissues related to Papillon-Lefevre Syndrome:

MalaCards : Skin, Bone Marrow, Brain, Bone, Globus Pallidus, Eye, Spinal Cord

Publications for Papillon-Lefevre Syndrome

Articles related to Papillon-Lefevre Syndrome:

(show top 50) (show all 31872)
# Title Authors PMID Year
1
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients. 53 62 57 5
11106356 2000
2
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 62 57 5
11886537 2001
3
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 62 57 5
10581027 1999
4
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 62 57 5
10593994 1999
5
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. 53 62 57
16410452 2006
6
Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. 53 62 57
15585850 2004
7
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 53 62 5
14974080 2004
8
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 53 62 5
11180012 2001
9
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. 53 62 57
10662807 2000
10
A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome. 62 5
33586345 2021
11
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome. 62 5
30908832 2019
12
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 62 5
29410039 2018
13
[Papillon-Lefèvre syndrome: A new case]. 62 5
28242153 2017
14
[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome]. 62 5
28317349 2016
15
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. 62 5
24936511 2014
16
Ocular surface squamous neoplasia in Papillon-Lefevre syndrome. 62 57
15652859 2005
17
Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. 62 57
12637913 2003
18
Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. 62 57
12509601 2003
19
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 62 5
12112662 2002
20
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. 62 57
9439671 1997
21
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. 62 57
9272739 1997
22
Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. 62 57
7623262 1995
23
Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin. 62 57
2965550 1988
24
The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. 62 57
159254 1979
25
HYPERKERATOSIS PALMOPLANTARIS WITH PERIODONTOSIS (PAPILLON-LEFEVRE). 62 57
14043611 1963
26
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
27
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. 5
10662808 2000
28
Increased collagen synthesis by gingival fibroblasts derived from a Papillon-Lefévre patient. 57
6460047 1982
29
THE SYNDROME OF PALMAR-PLANTAR HYPERKERATOSIS AND PREMATURE PERIODONTAL DESTRUCTION OF THE TEETH. A CLINICAL AND GENETIC ANALYSIS OF THE PAPILLON-LEF'EVRE SYNDROME. 57
14244097 1964
30
[Keratosis palmaris et plantaris with periodontopathy (Papilloni-Lefevre)]. 57
13851749 1959
31
Hyperkeratosis palmo-plantaris with periodontosis (Papillon-Lefèvre). 57
13384066 1956
32
[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome]. 53 62
18841559 2008
33
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. 53 62
15727652 2005
34
Identification of genetic risk factors for periodontitis and possible mechanisms of action. 53 62
16128836 2005
35
Epidermal differentiation: the role of proteases and their inhibitors. 53 62
15679120 2004
36
Cathepsin C involvement in the aetiology of Papillon-Lefevre syndrome. 53 62
15525320 2004
37
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. 53 62
15108292 2004
38
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients. 53 62
11158173 2001
39
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. 53 62
10712675 2000
40
Temporal effects of two interferential current applications on peripheral circulation in children with hemiplegic cerebral palsy. 62
36398021 2023
41
Retraction: Ultrasound guided neural stem cell transplantation through the lateral ventricle for treatment of cerebral palsy in children. 62
35900448 2023
42
Development of a Clinical Framework for the Assessment of Dyskinesia and Function in the Upper Limb in Children with Cerebral Palsy. 62
36097697 2023
43
Association Between Clinical Symptoms, Electrodiagnostic Findings, Clinical Outcome, and Prodromal Symptoms in Patients With Bell's Palsy. 62
35109694 2023
44
Elbow flexion contractures in neonatal brachial plexus palsy: A one-year comparison of dynamic orthosis and serial casting. 62
36004384 2023
45
Blade plate versus locking plate fixation of proximal femoral varus osteotomy in children with cerebral palsy. 62
35170574 2023
46
Clinical course of pain intensity in individuals with cerebral palsy: A prognostic systematic review. 62
35871758 2023
47
Evaluation of a technique of patellar tendon shortening to correct patella alta associated with severe crouch gait in cerebral palsy. 62
36445353 2023
48
The effect of medial only versus medial and lateral hamstring lengthening on transverse gait parameters in cerebral palsy. 62
36445368 2023
49
Gross motor function prediction using natural language processing in cerebral palsy. 62
35665923 2023
50
Adverse events after different forms of botulinum neurotoxin A injections in children with cerebral palsy: An 8-year retrospective study. 62
35674175 2023

Variations for Papillon-Lefevre Syndrome

ClinVar genetic disease variations for Papillon-Lefevre Syndrome:

5 (show top 50) (show all 204)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSC NM_001814.6(CTSC):c.890-1G>A SNV Pathogenic
7290 GRCh37: 11:88027677-88027677
GRCh38: 11:88294509-88294509
2 CTSC NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) SNV Pathogenic
7291 rs104894207 GRCh37: 11:88033700-88033700
GRCh38: 11:88300532-88300532
3 CTSC NM_001814.6(CTSC):c.856C>T (p.Gln286Ter) SNV Pathogenic
7292 GRCh37: 11:88029334-88029334
GRCh38: 11:88296166-88296166
4 CTSC NM_001814.6(CTSC):c.1047del (p.Gly350fs) DEL Pathogenic
Pathogenic
7293 GRCh37: 11:88027519-88027519
GRCh38: 11:88294351-88294351
5 CTSC NM_001814.6(CTSC):c.116G>C (p.Trp39Ser) SNV Pathogenic
7296 GRCh37: 11:88070725-88070725
GRCh38: 11:88337557-88337557
6 CTSC NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys) SNV Pathogenic
7298 GRCh37: 11:88027279-88027279
GRCh38: 11:88294111-88294111
7 CTSC NM_001814.6(CTSC):c.380A>C (p.His127Pro) SNV Pathogenic
7299 GRCh37: 11:88045661-88045661
GRCh38: 11:88312493-88312493
8 CTSC NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) SNV Pathogenic
7301 rs104894211 GRCh37: 11:88027526-88027526
GRCh38: 11:88294358-88294358
9 CTSC NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer) DEL Pathogenic
139654 GRCh37: 11:88027510-88027510
GRCh38: 11:88294342-88294342
10 CTSC NM_001814.6(CTSC):c.1211del (p.Asn404fs) DEL Pathogenic
634988 GRCh37: 11:88027355-88027355
GRCh38: 11:88294187-88294187
11 CTSC NM_001814.6(CTSC):c.716A>G (p.Asn239Ser) SNV Pathogenic
634989 GRCh37: 11:88033739-88033739
GRCh38: 11:88300571-88300571
12 CTSC NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer) INDEL Pathogenic
690367 GRCh37: 11:88029327-88029329
GRCh38: 11:88296159-88296161
13 CTSC NM_001814.6(CTSC):c.1141del (p.Leu381fs) DEL Pathogenic
523939 rs772132996 GRCh37: 11:88027425-88027425
GRCh38: 11:88294257-88294257
14 CTSC NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter) SNV Pathogenic
1398717 GRCh37: 11:88042402-88042402
GRCh38: 11:88309234-88309234
15 CTSC NM_001814.6(CTSC):c.268C>T (p.Gln90Ter) SNV Pathogenic
1424145 GRCh37: 11:88068155-88068155
GRCh38: 11:88334987-88334987
16 CTSC NM_001814.6(CTSC):c.754C>T (p.Gln252Ter) SNV Pathogenic
1455525 GRCh37: 11:88033701-88033701
GRCh38: 11:88300533-88300533
17 CTSC NM_001814.6(CTSC):c.555dup (p.Thr186fs) DUP Pathogenic
1351279 GRCh37: 11:88042416-88042417
GRCh38: 11:88309248-88309249
18 CTSC NM_001814.6(CTSC):c.783del (p.Phe261fs) DEL Pathogenic
1352166 GRCh37: 11:88029407-88029407
GRCh38: 11:88296239-88296239
19 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV Pathogenic
Pathogenic
139655 GRCh37: 11:88070745-88070745
GRCh38: 11:88337577-88337577
20 CTSC NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) SNV Pathogenic
548504 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
21 CTSC NM_001814.6(CTSC):c.526A>T (p.Lys176Ter) SNV Pathogenic
1687330 GRCh37: 11:88042446-88042446
GRCh38: 11:88309278-88309278
22 CTSC NM_001814.6(CTSC):c.628C>T (p.Arg210Ter) SNV Pathogenic
Pathogenic
7289 GRCh37: 11:88042344-88042344
GRCh38: 11:88309176-88309176
23 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV Pathogenic
Pathogenic
7297 GRCh37: 11:88027665-88027665
GRCh38: 11:88294497-88294497
24 CTSC NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) SNV Pathogenic
839668 rs199474831 GRCh37: 11:88068220-88068220
GRCh38: 11:88335052-88335052
25 CTSC NM_001814.6(CTSC):c.1096del (p.His366fs) DEL Pathogenic
935708 GRCh37: 11:88027470-88027470
GRCh38: 11:88294302-88294302
26 CTSC NM_001814.6(CTSC):c.-55C>A SNV Pathogenic
1075099 GRCh37: 11:88070895-88070895
GRCh38: 11:88337727-88337727
27 CTSC NC_000011.9:g.(?_88045475)_(88071056_?)del DEL Pathogenic
1457970 GRCh37: 11:88045475-88071056
GRCh38:
28 CTSC NM_001814.6(CTSC):c.855dup (p.Gln286fs) DUP Likely Pathogenic
575092 GRCh37: 11:88029334-88029335
GRCh38: 11:88296166-88296167
29 CTSC NM_001814.6(CTSC):c.360_362dup (p.Thr121dup) DUP Likely Pathogenic
1679189 GRCh37: 11:88045678-88045679
GRCh38: 11:88312510-88312511
30 CTSC NC_000011.9:g.(?_88040961)_(88042398_?)del DEL Likely Pathogenic
1506173 GRCh37: 11:88040961-88042398
GRCh38:
31 CTSC NM_001814.6(CTSC):c.815G>A (p.Arg272His) SNV Conflicting Interpretations Of Pathogenicity
139656 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
32 CTSC NM_001814.6(CTSC):c.642-15A>G SNV Uncertain Significance
Likely Benign
880876 rs748280232 GRCh37: 11:88033828-88033828
GRCh38: 11:88300660-88300660
33 CTSC NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) SNV Uncertain Significance
Uncertain Significance
646118 rs575727793 GRCh37: 11:88045646-88045646
GRCh38: 11:88312478-88312478
34 CTSC NM_001814.6(CTSC):c.319-15C>T SNV Uncertain Significance
Benign
258190 rs45539936 GRCh37: 11:88045737-88045737
GRCh38: 11:88312569-88312569
35 CTSC NM_001814.6(CTSC):c.81T>G (p.Pro27=) SNV Uncertain Significance
Likely Benign
883295 rs1370319468 GRCh37: 11:88070760-88070760
GRCh38: 11:88337592-88337592
36 CTSC NM_001814.6(CTSC):c.12G>A (p.Gly4=) SNV Uncertain Significance
Likely Benign
883296 rs755959403 GRCh37: 11:88070829-88070829
GRCh38: 11:88337661-88337661
37 CTSC NM_001814.6(CTSC):c.872G>C (p.Cys291Ser) SNV Uncertain Significance
942336 GRCh37: 11:88029318-88029318
GRCh38: 11:88296150-88296150
38 CTSC NM_001814.6(CTSC):c.919G>A (p.Ala307Thr) SNV Uncertain Significance
943207 GRCh37: 11:88027647-88027647
GRCh38: 11:88294479-88294479
39 CTSC NM_001814.6(CTSC):c.931G>A (p.Ala311Thr) SNV Uncertain Significance
943359 GRCh37: 11:88027635-88027635
GRCh38: 11:88294467-88294467
40 CTSC NM_001814.6(CTSC):c.796A>G (p.Met266Val) SNV Uncertain Significance
944290 GRCh37: 11:88029394-88029394
GRCh38: 11:88296226-88296226
41 CTSC NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe) SNV Uncertain Significance
953826 GRCh37: 11:88027407-88027407
GRCh38: 11:88294239-88294239
42 CTSC NM_001814.6(CTSC):c.1084C>G (p.Leu362Val) SNV Uncertain Significance
1009025 GRCh37: 11:88027482-88027482
GRCh38: 11:88294314-88294314
43 CTSC NM_001814.6(CTSC):c.574G>C (p.Glu192Gln) SNV Uncertain Significance
1012119 GRCh37: 11:88042398-88042398
GRCh38: 11:88309230-88309230
44 CTSC NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser) SNV Uncertain Significance
1021975 GRCh37: 11:88027445-88027445
GRCh38: 11:88294277-88294277
45 CTSC NM_001814.6(CTSC):c.550T>C (p.Ser184Pro) SNV Uncertain Significance
1047420 GRCh37: 11:88042422-88042422
GRCh38: 11:88309254-88309254
46 CTSC NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu) SNV Uncertain Significance
1051360 GRCh37: 11:88027249-88027249
GRCh38: 11:88294081-88294081
47 CTSC NM_001814.6(CTSC):c.344C>T (p.Thr115Ile) SNV Uncertain Significance
1062003 GRCh37: 11:88045697-88045697
GRCh38: 11:88312529-88312529
48 CTSC NM_001814.6(CTSC):c.43C>T (p.Leu15Phe) SNV Uncertain Significance
1064211 GRCh37: 11:88070798-88070798
GRCh38: 11:88337630-88337630
49 CTSC NM_001814.6(CTSC):c.338A>G (p.Lys113Arg) SNV Uncertain Significance
849347 GRCh37: 11:88045703-88045703
GRCh38: 11:88312535-88312535
50 CTSC NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr) SNV Uncertain Significance
851663 GRCh37: 11:88027673-88027673
GRCh38: 11:88294505-88294505

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 rs1044703733
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 rs1484758757
22 CTSC p.Glu319Gly VAR_019046 rs1294233227
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

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 space GO:0005615 10.28 PRTN3 PRSS57 ELANE CTSL CTSG CTSC
2 extracellular region GO:0005576 10.21 CAMP CMA1 CST7 CTSC CTSG CTSL
3 lysosome GO:0005764 10.02 GZMB CTSL CTSG CTSC CST7
4 collagen-containing extracellular matrix GO:0062023 9.73 PRTN3 ELANE CTSL CTSG CTSC CMA1
5 integrin alphaL-beta2 complex GO:0034687 9.46 ITGB2 ITGAL
6 azurophil granule lumen GO:0035578 9.32 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 10.1 CTSL CTSG CTSC CST7 CCR6
2 defense response to bacterium GO:0042742 9.98 LYST ELANE CTSG CAMP
3 extracellular matrix disassembly GO:0022617 9.8 ELANE CTSG CMA1
4 proteolysis GO:0006508 9.8 PRTN3 PRSS57 GZMB ELANE CTSL CTSG
5 proteolysis involved in protein catabolic process GO:0051603 9.73 CTSC CTSL GZMB
6 angiotensin maturation GO:0002003 9.67 CTSG CMA1
7 leukocyte migration involved in inflammatory response GO:0002523 9.55 ITGB2 ELANE CCR6
8 phagocytosis GO:0006909 9.28 PRTN3 LYST ITGB2 ITGAL ELANE

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 9.91 PRTN3 PRSS57 PADI4 GZMB ELANE CTSL
2 serine-type peptidase activity GO:0008236 9.9 PRTN3 PRSS57 GZMB ELANE CTSG CMA1
3 peptidase activity GO:0008233 9.65 CMA1 CTSC CTSG CTSL ELANE GZMB
4 ICAM-3 receptor activity GO:0030369 9.62 ITGB2 ITGAL
5 serine-type endopeptidase activity GO:0004252 9.47 PRTN3 PRSS57 GZMB ELANE CTSG CTSC

Sources for Papillon-Lefevre Syndrome

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