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PALS
MCID: PPL049
MIFTS: 65

Papillon-Lefevre Syndrome (PALS)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Papillon-Lefevre Syndrome

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MalaCards integrated aliases for Papillon-Lefevre Syndrome:

Name: Papillon-Lefevre Syndrome 57 58 72 36 13 54 39
Papillon-Lefèvre Syndrome 73 20 29 6
Papillon-Lefevre Disease 12 44 15 70
Keratosis Palmoplantaris with Periodontopathia 57 20 72
Pls 57 58 72
Keratosis Palmoplantar-Periodontopathy Syndrome 20 58
Papillon Lefevre Syndrome 12 20
Pals 57 72
Palmar-Plantar Hyperkeratosis and Concomitant Periodontal Destruction 20
Hyperkeratosis Palmoplantaris with Periodontosis 20
Keratoris Palmoplantaris with Periodontopathia 20
Palmoplantar Keratoderma with Periodontosis 20
Keratosis Palmoplantar - Periodontopathy 20
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
papillon-lefevre syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Cancer diseases
Anatomical: Skin diseases Blood diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33
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® 57 245000
KEGG 36 H00274
MeSH 44 D010214
NCIt 50 C84992
SNOMED-CT 67 40158001
MESH via Orphanet 45 D010214
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0030360
Orphanet 58 ORPHA678
MedGen 41 C0030360
UMLS 70 C0030360
Sources

Summaries for Papillon-Lefevre Syndrome

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GARD : 20 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.

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

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) (Updated 05-Apr-2021)

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 : 72 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 : 73 Papillon-Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an... more...

Sources

Related Diseases for Papillon-Lefevre Syndrome

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

(show top 50) (show all 1962)
# Related Disease Score Top Affiliating Genes
1 periodontitis 31.5 SIGLEC5 ELANE CTSC
2 aggressive periodontitis 30.8 ITGAL ELANE CTSC
3 vasculitis 30.6 PRTN3 ELANE CTSG
4 temporal arteritis 30.2 PRTN3 HLA-DRB1 CCR6
5 bacterial infectious disease 30.1 ELANE CCR6 CAMP
6 skin disease 30.0 SIGLEC5 PRTN3 ITGAL CCR6 CAMP
7 granulomatosis with polyangiitis 29.9 PRTN3 ELANE CTSG CCR6
8 peritonitis 29.9 PRTN3 ELANE CTSG CMA1
9 syphilis 29.9 PRTN3 HLA-DRB1 CCR6
10 typhoid fever 29.8 SIGLEC5 HLA-DRB1 CCR6
11 lung disease 29.8 PRTN3 ELANE CTSG CAMP
12 disease by infectious agent 29.7 SIGLEC5 PRTN3 CCR6 CAMP
13 dacryoadenitis 29.7 PRTN3 CCR6
14 glomerulonephritis 29.6 PRTN3 ITGAL ELANE CTSG
15 pars planitis 29.6 HLA-DRB1 CCR6
16 histoplasmosis 29.5 SLC17A5 HLA-DRB1 CCR6
17 pustulosis of palm and sole 29.5 SIGLEC5 CCR6
18 tick infestation 29.4 SIGLEC5 CTSL
19 central nervous system vasculitis 29.4 PRTN3 HLA-DRB1 CCR6
20 human immunodeficiency virus infectious disease 29.4 ITGAL GZMB CCR6
21 ulcerative colitis 29.4 PRTN3 HLA-DRB1 CTSG CCR6
22 acute proliferative glomerulonephritis 29.4 PRTN3 CTSG CCR6
23 autoimmune vasculitis 29.3 PRTN3 ELANE CCR6
24 bone inflammation disease 29.3 PRTN3 HLA-DRB1 CCR6
25 aortic aneurysm, familial abdominal, 1 29.3 ELANE CTSL CMA1
26 impetigo 29.1 PRTN3 ELANE CCR6 CAMP
27 pulmonary disease, chronic obstructive 29.0 SIGLEC5 PRTN3 GZMB ELANE CTSG CCR6
28 inflammatory bowel disease 28.9 PRTN3 ITGAL HLA-DRB1 GZMB ELANE CTSG
29 malaria 28.9 PRTN3 ITGAL HLA-DRB1 GZMB ELANE CTSG
30 psoriasis 28.9 ITGAL HLA-DRB1 ELANE CCR6 CAMP
31 systemic lupus erythematosus 28.8 PRTN3 ITGAL HLA-DRB1 ELANE CTSG CCR6
32 rheumatoid arthritis 28.8 PRTN3 ITGAL HLA-DRB1 ELANE CTSL CTSG
33 cerebral palsy 12.0
34 supranuclear palsy, progressive, 1 11.9
35 bell's palsy 11.8
36 cerebral palsy, ataxic, autosomal recessive 11.6
37 lateral sclerosis 11.6
38 spastic quadriplegia 11.6
39 abducens nerve disease 11.6
40 spastic hemiplegia 11.5
41 horizontal gaze palsy with progressive scoliosis 11.5
42 facial paralysis 11.5
43 dyskinetic cerebral palsy 11.5
44 spastic diplegia 11.5
45 spastic cerebral palsy 11.5
46 primary lateral sclerosis, juvenile 11.5
47 primary lateral sclerosis, adult, 1 11.5
48 progressive bulbar palsy 11.5
49 fourth cranial nerve palsy, familial congenital 11.5
50 cerebral palsy, spastic quadriplegic, 1 11.5

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



Diseases related to Papillon-Lefevre Syndrome
Sources

Symptoms & Phenotypes for Papillon-Lefevre Syndrome

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Human phenotypes related to Papillon-Lefevre Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
3 gingivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000230
4 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
5 pustule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200039
6 palmoplantar hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000972
7 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
8 severe periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000166
9 atrophy of alveolar ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0006308
10 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
11 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
12 recurrent cutaneous abscess formation 58 31 frequent (33%) Frequent (79-30%) HP:0100838
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 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
16 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
17 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
18 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
19 sparse body hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002231
20 liver abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0100523
21 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
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 periodontitis 58 Very frequent (99-80%)
28 neoplasm of the skin 58 Occasional (29-5%)
29 premature loss of teeth 31 HP:0006480
30 recurrent skin infections 58 Frequent (79-30%)
31 choroid plexus calcification 31 HP:0006960

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

Sources

Drugs & Therapeutics for Papillon-Lefevre Syndrome

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

(show top 50) (show all 289)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
2
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
3
Amitriptyline Approved Phase 4 50-48-6 2160
4
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
5
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
6
Tetrabenazine Approved, Investigational Phase 4 58-46-8 6018
7
Topiramate Approved Phase 4 97240-79-4 5284627
8
Trihexyphenidyl Approved Phase 4 58947-95-8, 144-11-6 5572
9
Perphenazine Approved Phase 4 58-39-9 4748
10
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
11
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
12
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
13
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
15
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
16
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
17
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
18
Acetaminophen Approved Phase 4 103-90-2 1983
19
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
20
Racepinephrine Approved Phase 4 329-65-7 838
21
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
22
Promethazine Approved, Investigational Phase 4 60-87-7 4927
23
Suvorexant Approved, Investigational Phase 4 1030377-33-3
24
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
25
Zolpidem Approved Phase 4 82626-48-0 5732
26
Zoledronic Acid Approved Phase 4 118072-93-8 68740
27
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
28
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
29
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
30
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
31
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
32
Cortisone Experimental Phase 4 53-06-5 222786
33 Psychotropic Drugs Phase 4
34 Antipsychotic Agents Phase 4
35 Muscarinic Antagonists Phase 4
36 Cholinergic Antagonists Phase 4
37 Gastrointestinal Agents Phase 4
38 Neuroprotective Agents Phase 4
39 Antiemetics Phase 4
40 Acidophilus Phase 4
41 Sunflower Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 valacyclovir Phase 4
44 Sodium Channel Blockers Phase 4
45 Antidepressive Agents Phase 4
46 Amitriptyline, perphenazine drug combination Phase 4
47 GABA Modulators Phase 4
48 Diuretics, Potassium Sparing Phase 4
49 Antidepressive Agents, Tricyclic Phase 4
50 Anti-Anxiety Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1107)
# 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 Does Saline Injection Around Phrenic Nerve Reduce Incidence of Diaphragmatic Paresis Following Interscalene Block? Unknown status NCT02893228 Phase 4 Levobupivacaine
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 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
7 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
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 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
10 Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children Completed NCT00154830 Phase 4
11 Management of Excessive Crying in Cerebral Palsy -A Placebo-controlled, Fixed-sequence, Crossover Clinical Trial. Completed NCT04523935 Phase 4 Baclofen, Diazepam, Clonazepam, Trihexyphenidyl, Tetrabenazine, Gabapentin, Topiramate, Lamotrigine, Amitriptyline.
12 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
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 Do We Need to Taper Down Steroid Therapy for Bell's Palsy: A Prospective Randomized Controlled Trial Recruiting NCT04406376 Phase 4 Prednisone tablet
16 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
17 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
18 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
19 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
20 Treatment of Disturbed Sleep in Progressive Supranuclear Palsy (PSP) Recruiting NCT04014387 Phase 4 Suvorexant;Zolpidem;Placebo oral capsule
21 Use of Amantadine in Treating Cognitive and Motor Impairments in Adolescents and Adults With Cerebral Palsy Recruiting NCT04273737 Phase 4 Amantadine Hydrochloride
22 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
23 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Active, not recruiting NCT02633241 Phase 4 Dexmedetomidine-Propofol
24 Mixed Methods Investigation of Chronic Facial Paralysis in Individuals With Synkinesis: Study of Outcomes Before and After Treatment Active, not recruiting NCT04148872 Phase 4 Chemodenervation (4 months)
25 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
26 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
27 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Withdrawn NCT01386255 Phase 4 Baclofen;placebo
28 Modulation of Brain Plasticity After Perinatal Stroke: The PLASTIC CHAMPS Trial Unknown status NCT01189058 Phase 2, Phase 3
29 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
30 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
31 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Unknown status NCT02839642 Phase 3 Rivastigmine;Placebo
32 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
33 Project:Intensive Habilitation (PIH) -a New Norwegian Multidisciplinary Program for Intensive Training for Children With Disabilities Unknown status NCT00202761 Phase 2, Phase 3
34 Intratympanic Steroid Injection for Treatment of Idiopathic Facial Nerve Paralysis Unknown status NCT03508440 Phase 2, Phase 3 Prednisone
35 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
36 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
37 Stimulation for Perinatal Stroke Optimizing Recovery Trajectories Unknown status NCT03216837 Phase 2, Phase 3
38 The Physical Activity Loyalty Card Scheme: A Randomised Controlled Trial to Encourage Physical Activity Completed NCT01575262 Phase 2, Phase 3
39 Correction of Myopia Evaluation Trial 2 (COMET2): A Randomized Trial of the Effect of Progressive Addition Lenses Versus Single Vision Lenses on Low Myopia Associated With Large Accommodative Lags and Near Esophoria in Children Completed NCT00320593 Phase 3
40 Intrathecal Baclofen. Evaluation of a Therapy for Refractory Spasticity in Children With Cerebral Palsy Completed NCT00367068 Phase 3 baclofen, intrathecal
41 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
42 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
43 Double-blinded, Randomized, Active Control Comparative, Multicenter-designed, Phase III Clinical Trial to Evaluate the Safety and Efficacy of "Botulax®" Versus "Botox®" in Children With Cerebral Palsy Completed NCT01787344 Phase 3 Botulinum Toxin Type A(Botox®);Botulinum toxin type A(Botulax®)
44 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
45 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
46 Assessment of Corticosteroid Effect in the Prevention of Facial Palsy After Cerebella-pontine Angle Surgery Completed NCT00438087 Phase 3 methylprednisolone
47 Post-operative Pain in Children With Cerebral Palsy Following Major Hip Surgery: a Double Blind Randomised Placebo Controlled Trial of Pre-operative Botulinum Toxin Type A Completed NCT01437644 Phase 3 botulinum toxin intramuscular injection
48 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)
49 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)
50 Is it Possible to Improve Static and Dynamic Postural Stability in Cerebral Palsy Children by Modulating Attention? Completed NCT01799304 Phase 3

Search NIH Clinical Center for Papillon-Lefevre Syndrome

Cochrane evidence based reviews: papillon-lefevre disease

Sources

Genetic Tests for Papillon-Lefevre Syndrome

About this section

Genetic tests related to Papillon-Lefevre Syndrome:

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

Anatomical Context for Papillon-Lefevre Syndrome

About this section

MalaCards organs/tissues related to Papillon-Lefevre Syndrome:

40
Bone, Skin, Bone Marrow, Brain, Neutrophil, Liver, Eye
Sources

Publications for Papillon-Lefevre Syndrome

About this section

Articles related to Papillon-Lefevre Syndrome:

(show top 50) (show all 479)
# 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. 61 6 57
11886537 2001
2
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 61 57 6
10581027 1999
3
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 61 57 6
10593994 1999
4
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. 54 61 57
16410452 2006
5
Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. 57 54 61
15585850 2004
6
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 61 6 54
14974080 2004
7
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 6 54 61
11180012 2001
8
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients. 57 54 61
11106356 2000
9
Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. 54 57 61
10662807 2000
10
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome. 6 61
30908832 2019
11
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 6 61
29410039 2018
12
[Papillon-Lefèvre syndrome: A new case]. 6 61
28242153 2017
13
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. 6 61
24936511 2014
14
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. 61 6
23311634 2013
15
Ocular surface squamous neoplasia in Papillon-Lefevre syndrome. 57 61
15652859 2005
16
Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. 57 61
12637913 2003
17
Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. 57 61
12509601 2003
18
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 61 6
12112662 2002
19
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. 61 57
9439671 1997
20
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. 61 57
9272739 1997
21
Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. 61 57
7623262 1995
22
Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin. 57 61
2965550 1988
23
The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. 57 61
159254 1979
24
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. 6
10662808 2000
25
Quantification of glial fibrillary acidic protein: comparison of slot-immunobinding assays with a novel sandwich ELISA. 6
1886537 1991
26
Increased collagen synthesis by gingival fibroblasts derived from a Papillon-Lefévre patient. 57
6460047 1982
27
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
28
HYPERKERATOSIS PALMOPLANTARIS WITH PERIODONTOSIS (PAPILLON-LEFEVRE). 57
14043611 1963
29
[Keratosis palmaris et plantaris with periodontopathy (Papilloni-Lefevre)]. 57
13851749 1959
30
[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome]. 54 61
18841559 2008
31
A homozygous cathepsin C mutation associated with Haim-Munk syndrome. 54 61
15727652 2005
32
Identification of genetic risk factors for periodontitis and possible mechanisms of action. 54 61
16128836 2005
33
Epidermal differentiation: the role of proteases and their inhibitors. 61 54
15679120 2004
34
Cathepsin C involvement in the aetiology of Papillon-Lefevre syndrome. 61 54
15525320 2004
35
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. 61 54
15108292 2004
36
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients. 54 61
11158173 2001
37
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. 61 54
10712675 2000
38
Two patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition. 61
33580910 2021
39
A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome. 61
33586345 2021
40
Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre. 61
33445524 2021
41
Lung Protection by Cathepsin C Inhibition: A New Hope for COVID-19 and ARDS? 61
32692176 2020
42
Diagnosis of Papillon-Lefèvre syndrome: review of the literature and a case report. 61
33240004 2020
43
Dental prosthetic rehabilitation of Papillon-Lefèvre syndrome: a case report. 61
33042508 2020
44
Oral rehabilitation of Papillon-Lefèvre syndrome patients by dental implants: a systematic review. 61
32855368 2020
45
Japanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations. 61
32463525 2020
46
Cathepsin G and its Dichotomous Role in Modulating Levels of MHC Class I Molecules. 61
32815043 2020
47
Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene. 61
32601924 2020
48
Papillon-Lefèvre syndrome: Oral aspects and treatment. 61
32222110 2020
49
Digital prosthodontic management of a young patient with Papillon-Lefèvre syndrome: A clinical report. 61
31353110 2020
50
A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome. 61
31751289 2020
Sources

Variations for Papillon-Lefevre Syndrome

About this section

ClinVar genetic disease variations for Papillon-Lefevre Syndrome:

6 (show top 50) (show all 128)
# 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.1047del (p.Gly350fs) Deletion Pathogenic 7293 GRCh37: 11:88027519-88027519
GRCh38: 11:88294351-88294351
3 CTSC NM_001814.6(CTSC):c.116G>C (p.Trp39Ser) SNV Pathogenic 7296 GRCh37: 11:88070725-88070725
GRCh38: 11:88337557-88337557
4 CTSC NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys) SNV Pathogenic 7298 GRCh37: 11:88027279-88027279
GRCh38: 11:88294111-88294111
5 CTSC NM_001814.6(CTSC):c.380A>C (p.His127Pro) SNV Pathogenic 7299 GRCh37: 11:88045661-88045661
GRCh38: 11:88312493-88312493
6 CTSC NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) SNV Pathogenic 7301 rs104894211 GRCh37: 11:88027526-88027526
GRCh38: 11:88294358-88294358
7 CTSC NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer) Deletion Pathogenic 139654 GRCh37: 11:88027510-88027510
GRCh38: 11:88294342-88294342
8 CTSC NM_001814.6(CTSC):c.716A>G (p.Asn239Ser) SNV Pathogenic 634989 GRCh37: 11:88033739-88033739
GRCh38: 11:88300571-88300571
9 CTSC NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer) Indel Pathogenic 690367 GRCh37: 11:88029327-88029329
GRCh38: 11:88296159-88296161
10 CTSC NM_001814.6(CTSC):c.1211del (p.Asn404fs) Deletion Pathogenic 634988 GRCh37: 11:88027355-88027355
GRCh38: 11:88294187-88294187
11 CTSC NM_001814.6(CTSC):c.856C>T (p.Gln286Ter) SNV Pathogenic 7292 GRCh37: 11:88029334-88029334
GRCh38: 11:88296166-88296166
12 CTSC NM_001814.6(CTSC):c.628C>T (p.Arg210Ter) SNV Pathogenic 7289 GRCh37: 11:88042344-88042344
GRCh38: 11:88309176-88309176
13 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV Pathogenic 7297 GRCh37: 11:88027665-88027665
GRCh38: 11:88294497-88294497
14 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV Pathogenic 139655 GRCh37: 11:88070745-88070745
GRCh38: 11:88337577-88337577
15 CTSC NM_001814.6(CTSC):c.628C>T (p.Arg210Ter) SNV Pathogenic 7289 GRCh37: 11:88042344-88042344
GRCh38: 11:88309176-88309176
16 CTSC NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) SNV Pathogenic 839668 GRCh37: 11:88068220-88068220
GRCh38: 11:88335052-88335052
17 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV Pathogenic 139655 GRCh37: 11:88070745-88070745
GRCh38: 11:88337577-88337577
18 CTSC NM_001814.6(CTSC):c.1096del (p.His366fs) Deletion Pathogenic 935708 GRCh37: 11:88027470-88027470
GRCh38: 11:88294302-88294302
19 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV Pathogenic 7297 GRCh37: 11:88027665-88027665
GRCh38: 11:88294497-88294497
20 CTSC NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) SNV Pathogenic 7291 rs104894207 GRCh37: 11:88033700-88033700
GRCh38: 11:88300532-88300532
21 CTSC NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) SNV Pathogenic 548504 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
22 CTSC NM_001814.6(CTSC):c.855dup (p.Gln286fs) Duplication Likely pathogenic 575092 GRCh37: 11:88029334-88029335
GRCh38: 11:88296166-88296167
23 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
24 CTSC NM_001814.6(CTSC):c.-55C>T SNV Uncertain significance 882292 GRCh37: 11:88070895-88070895
GRCh38: 11:88337727-88337727
25 CTSC NM_001814.6(CTSC):c.1145A>G (p.His382Arg) SNV Uncertain significance 623339 GRCh37: 11:88027421-88027421
GRCh38: 11:88294253-88294253
26 CTSC NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) SNV Uncertain significance 306420 rs886048738 GRCh37: 11:88027443-88027443
GRCh38: 11:88294275-88294275
27 CTSC NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) SNV Uncertain significance 306423 rs748729285 GRCh37: 11:88029318-88029318
GRCh38: 11:88296150-88296150
28 CTSC NM_001814.6(CTSC):c.173-6del Deletion Uncertain significance 306430 rs372892181 GRCh37: 11:88068256-88068256
GRCh38: 11:88335088-88335088
29 CTSC NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) SNV Uncertain significance 306429 rs142378484 GRCh37: 11:88068160-88068160
GRCh38: 11:88334992-88334992
30 CTSC NM_001814.5(CTSC):c.-80G>C SNV Uncertain significance 306440 rs758293258 GRCh37: 11:88070920-88070920
GRCh38: 11:88337752-88337752
31 CTSC NM_001814.6(CTSC):c.757+6A>T SNV Uncertain significance 306425 rs886048741 GRCh37: 11:88033692-88033692
GRCh38: 11:88300524-88300524
32 CTSC NM_001814.6(CTSC):c.-48G>A SNV Uncertain significance 306437 rs200415443 GRCh37: 11:88070888-88070888
GRCh38: 11:88337720-88337720
33 CTSC NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) SNV Uncertain significance 306428 rs763656343 GRCh37: 11:88042463-88042463
GRCh38: 11:88309295-88309295
34 CTSC NM_001814.6(CTSC):c.729C>T (p.Ile243=) SNV Uncertain significance 306426 rs766063253 GRCh37: 11:88033726-88033726
GRCh38: 11:88300558-88300558
35 CTSC NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) SNV Uncertain significance 306417 rs143736590 GRCh37: 11:88027252-88027252
GRCh38: 11:88294084-88294084
36 CTSC NM_001814.6(CTSC):c.948G>C (p.Leu316=) SNV Uncertain significance 306422 rs145373075 GRCh37: 11:88027618-88027618
GRCh38: 11:88294450-88294450
37 CTSC NM_001814.6(CTSC):c.954A>G (p.Glu318=) SNV Uncertain significance 306421 rs886048739 GRCh37: 11:88027612-88027612
GRCh38: 11:88294444-88294444
38 CTSC NM_001814.6(CTSC):c.790A>C (p.Met264Leu) SNV Uncertain significance 575218 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
39 CTSC NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys) SNV Uncertain significance 640536 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
40 CTSC NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys) SNV Uncertain significance 643044 GRCh37: 11:88027263-88027263
GRCh38: 11:88294095-88294095
41 CTSC NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) SNV Uncertain significance 646118 GRCh37: 11:88045646-88045646
GRCh38: 11:88312478-88312478
42 CTSC NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) SNV Uncertain significance 647363 GRCh37: 11:88027365-88027365
GRCh38: 11:88294197-88294197
43 CTSC NM_001814.6(CTSC):c.790A>G (p.Met264Val) SNV Uncertain significance 647418 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
44 CTSC NM_001814.6(CTSC):c.259A>G (p.Ile87Val) SNV Uncertain significance 548698 rs45447392 GRCh37: 11:88068164-88068164
GRCh38: 11:88334996-88334996
45 CTSC NM_001814.6(CTSC):c.364A>G (p.Met122Val) SNV Uncertain significance 648150 GRCh37: 11:88045677-88045677
GRCh38: 11:88312509-88312509
46 CTSC NM_001814.6(CTSC):c.1392G>A (p.Ter464=) SNV Uncertain significance 650803 GRCh37: 11:88027174-88027174
GRCh38: 11:88294006-88294006
47 CTSC NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn) SNV Uncertain significance 651983 GRCh37: 11:88027656-88027656
GRCh38: 11:88294488-88294488
48 CTSC NM_001814.6(CTSC):c.757+5A>G SNV Uncertain significance 652502 GRCh37: 11:88033693-88033693
GRCh38: 11:88300525-88300525
49 CTSC NM_001814.6(CTSC):c.953A>G (p.Glu318Gly) SNV Uncertain significance 652504 GRCh37: 11:88027613-88027613
GRCh38: 11:88294445-88294445
50 CTSC NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr) SNV Uncertain significance 654717 GRCh37: 11:88027221-88027221
GRCh38: 11:88294053-88294053

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

72 (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

Cosmic variations for Papillon-Lefevre Syndrome:

9 (show top 50) (show all 482)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
2 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
3 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
4 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
5 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
6 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
7 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
8 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
9 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
10 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
11 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 8
12 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
13 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 8
14 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 8
15 COSM111765517 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
16 COSM142560894 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
17 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
18 COSM145018355 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
19 COSM143465962 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
20 COSM144651848 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
21 COSM105636071 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
22 COSM144311386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
23 COSM106053786 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
24 COSM144757328 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
25 COSM143945161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
26 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
27 COSM121884502 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
28 COSM144315643 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
29 COSM142566904 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
30 COSM111807840 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
31 COSM144652672 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
32 COSM143000079 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
33 COSM105621045 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
34 COSM93198616 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
35 COSM105627660 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
36 COSM144650760 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
37 COSM111909038 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
38 COSM144087357 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 8
39 COSM106067323 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
40 COSM144014790 TP53 skin,hand,carcinoma,squamous cell carcinoma c.823G>A p.E275K 17:7673764-7673764 8
41 COSM122278245 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
42 COSM122740574 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
43 COSM105627464 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
44 COSM112268626 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
45 COSM144440622 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
46 COSM93190806 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
47 COSM106140358 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
48 COSM142838326 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
49 COSM122272113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 8
50 COSM111758217 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
Sources

Expression for Papillon-Lefevre Syndrome

About this section
Search GEO for disease gene expression data for Papillon-Lefevre Syndrome.
Sources

Pathways for Papillon-Lefevre Syndrome

About this section

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
Innate Immune System 65
Show member pathways
 13.55 SIGLEC5 PRTN3 ITGAL HLA-DRB1 ELANE CTSL
2
Degradation of the extracellular matrix 65
Show member pathways
 12.21 ITGAL ELANE CTSL CTSG CMA1
3
MHC class II antigen presentation 65
11.62 HLA-DRB1 CTSL CTSC
4
Matrix Metalloproteinases 1
Show member pathways
 11.58 ELANE CTSG CMA1
5
Staphylococcus aureus infection 36
11.53 ITGAL HLA-DRB1 CAMP
6
Rheumatoid arthritis 36
11.47 ITGAL HLA-DRB1 CTSL
7
Lysosome 36
11.36 SLC17A5 CTSL CTSG CTSC
8
Defensins 65
Show member pathways
 11.35 PRTN3 ELANE CTSG CCR6 CAMP
Sources

GO Terms for Papillon-Lefevre Syndrome

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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 9.97 PRTN3 ITGAL HLA-DRB1 ELANE CTSL CTSG
2 extracellular space GO:0005615 9.85 PRTN3 PRSS57 HLA-DRB1 ELANE CTSL CTSG
3 cell surface GO:0009986 9.8 ITGAL HLA-DRB1 ELANE CTSG CCR6
4 lysosome GO:0005764 9.77 SLC17A5 HLA-DRB1 CTSL CTSC CST7
5 collagen-containing extracellular matrix GO:0062023 9.73 PRTN3 ELANE CTSL CTSG CTSC CMA1
6 extracellular region GO:0005576 9.7 PRTN3 PRSS57 GZMB ELANE CTSL CTSG
7 secretory granule GO:0030141 9.61 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 9.8 HLA-DRB1 CTSL CTSG CTSC CST7 CCR6
2 phagocytosis GO:0006909 9.58 PRTN3 ITGAL ELANE
3 extracellular matrix disassembly GO:0022617 9.56 ELANE CTSL CTSG CMA1
4 proteolysis involved in cellular protein catabolic process GO:0051603 9.54 GZMB CTSL CTSC
5 neutrophil degranulation GO:0043312 9.5 SIGLEC5 PRTN3 ITGAL ELANE CTSG CTSC
6 leukocyte migration involved in inflammatory response GO:0002523 9.48 ELANE CCR6
7 positive regulation of immune response GO:0050778 9.46 ELANE CTSG
8 antimicrobial humoral response GO:0019730 9.46 PRTN3 ELANE CTSG CAMP
9 angiotensin maturation GO:0002003 9.43 CTSG CMA1
10 proteolysis GO:0006508 9.23 PRTN3 PRSS57 GZMB ELANE CTSL 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 9.86 PRTN3 PRSS57 GZMB ELANE CTSL CTSG
2 peptidase activity GO:0008233 9.76 PRTN3 PRSS57 GZMB ELANE CTSL CTSG
3 heparin binding GO:0008201 9.5 PRSS57 ELANE CTSG
4 serine-type peptidase activity GO:0008236 9.43 PRTN3 PRSS57 GZMB ELANE CTSG CMA1
5 serine-type endopeptidase activity GO:0004252 9.17 PRTN3 PRSS57 GZMB ELANE CTSG CTSC
Sources

Sources for Papillon-Lefevre Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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