Papillon-Lefevre Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PALS MCID: PPL049 MIFTS: 70	Papillon-Lefevre Syndrome (PALS) Categories: Blood diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Blood diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

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

EFO ¹⁶ EFO_1000631

UMLS ⁷¹ C0030360

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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...

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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:

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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

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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

Acetaminophen

Approved

Phase 4

103-90-2

1983

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Valaciclovir

Approved, Investigational

Phase 4

124832-27-5, 124832-26-4

60773 135398742

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Amitriptyline

Approved

Phase 4

50-48-6

2160

Lamotrigine

Approved, Investigational

Phase 4

84057-84-1

3878

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

Trihexyphenidyl

Approved

Phase 4

144-11-6

5572

Clonazepam

Approved, Illicit

Phase 4

1622-61-3

2802

Diazepam

Approved, Illicit, Investigational, Vet_approved

Phase 4

439-14-5

3016

Topiramate

Approved

Phase 4

97240-79-4

5284627

Tetrabenazine

Approved, Investigational

Phase 4

58-46-8

6018

Levobupivacaine

Approved, Investigational

Phase 4

27262-47-1

92253

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Ropivacaine

Approved

Phase 4

84057-95-4

71273 175805

Ketorolac

Approved

Phase 4

74103-06-3, 66635-83-4

3826

Zolpidem

Approved

Phase 4

82626-48-0

5732

Diphenhydramine

Approved, Investigational

Phase 4

147-24-0, 58-73-1

3100

Suvorexant

Approved, Investigational

Phase 4

1030377-33-3

57505028 24965990

Promethazine

Approved, Investigational

Phase 4

60-87-7

4927

Zoledronic acid

Approved

Phase 4

118072-93-8

68740

Apraclonidine

Approved

Phase 4

66711-21-5

2216

Acetylcholine

Approved, Investigational

Phase 4

51-84-3

187

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Amantadine

Approved

Phase 4

768-94-5

2130

Inulin

Approved, Investigational, Nutraceutical

Phase 4

9005-80-5

24763

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Cortisone

Experimental

Phase 4

53-06-5

222786

Antipyretics

Phase 4

incobotulinumtoxinA

Phase 4

Gastrointestinal Agents

Phase 4

Antiemetics

Phase 4

Psychotropic Drugs

Phase 4

Anticonvulsants

Phase 4

calcium channel blockers

Phase 4

Antidepressive Agents

Phase 4

Hypnotics and Sedatives

Phase 4

Anesthetics, General

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Acidophilus

Phase 4

Sunflower

Phase 4

Anesthetics, Intravenous

Phase 4

Antipsychotic Agents

Phase 4

Sodium Channel Blockers

Phase 4

Anti-Anxiety Agents

Phase 4

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

Sources

Genetic Tests for Papillon-Lefevre Syndrome

Genetic tests related to Papillon-Lefevre Syndrome:

#	Genetic test	Affiliating Genes
1	Papillon-Lefèvre Syndrome ²⁸	CTSC

Sources

Anatomical Context for Papillon-Lefevre Syndrome

Organs/tissues related to Papillon-Lefevre Syndrome:

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

Sources

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	Hart PS...Hart TC	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	Lefevre C...Fischer J	11886537	2001
3	Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. ⁶² ⁵⁷ ⁵	Toomes C...Thakker NS	10581027	1999
4	Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. ⁶² ⁵⁷ ⁵	Hart TC...Firatli E	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	Meade JL...Cook GP	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	Pham CT...Ley TJ	15585850	2004
7	The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. ⁵³ ⁶² ⁵	Hewitt C...Thakker N	14974080	2004
8	Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. ⁵³ ⁶² ⁵	Nakano A...Uitto J	11180012	2001
9	Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. ⁵³ ⁶² ⁵⁷	Hart TC...Zlorogorski A	10662807	2000
10	A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome. ⁶² ⁵	Ghanei M...Arab H	33586345	2021
11	CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome. ⁶² ⁵	Wu Y...Wu Y	30908832	2019
12	Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. ⁶² ⁵	Bullon P...Cordero MD	29410039	2018
13	[Papillon-Lefèvre syndrome: A new case]. ⁶² ⁵	Martinho S...Stephan JL	28242153	2017
14	[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome]. ⁶² ⁵	Yuanjiao C...Chen-Jun L	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	Nagy N...Szell M	24936511	2014
16	Ocular surface squamous neoplasia in Papillon-Lefevre syndrome. ⁶² ⁵⁷	Murthy R...Parathasaradhi A	15652859	2005
17	Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. ⁶² ⁵⁷	Ullbro C...Thestrup-Pedersen K	12637913	2003
18	Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. ⁶² ⁵⁷	Almuneef M...Al-Anazi A	12509601	2003
19	Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. ⁶² ⁵	Zhang Y...Hart TC	12112662	2002
20	Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. ⁶² ⁵⁷	Laass MW...Reis A	9439671	1997
21	Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. ⁶² ⁵⁷	Fischer J...Weissenbach J	9272739	1997
22	Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. ⁶² ⁵⁷	Hattab FN...al-Ubosi MM	7623262	1995
23	Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin. ⁶² ⁵⁷	Nazzaro V...Puissant A	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	Haneke E	159254	1979
25	HYPERKERATOSIS PALMOPLANTARIS WITH PERIODONTOSIS (PAPILLON-LEFEVRE). ⁶² ⁵⁷	ZIPRKOWSKI L...BRISH M	14043611	1963
26	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
27	Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. ⁵	Hart TC...Walker S	10662808	2000
28	Increased collagen synthesis by gingival fibroblasts derived from a Papillon-Lefévre patient. ⁵⁷	Cheung HS...Bauer M	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	GORLIN RJ...ANDERSON VE	14244097	1964
30	[Keratosis palmaris et plantaris with periodontopathy (Papilloni-Lefevre)]. ⁵⁷	GREITHER A	13851749	1959
31	Hyperkeratosis palmo-plantaris with periodontosis (Papillon-Lefèvre). ⁵⁷	DEKKER G...JANSEN LH	13384066	1956
32	[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome]. ⁵³ ⁶²	Li X...Chen Y	18841559	2008
33	A homozygous cathepsin C mutation associated with Haim-Munk syndrome. ⁵³ ⁶²	Cury VF...De Marco L	15727652	2005
34	Identification of genetic risk factors for periodontitis and possible mechanisms of action. ⁵³ ⁶²	Loos BG...Laine ML	16128836	2005
35	Epidermal differentiation: the role of proteases and their inhibitors. ⁵³ ⁶²	Zeeuwen PL	15679120	2004
36	Cathepsin C involvement in the aetiology of Papillon-Lefevre syndrome. ⁵³ ⁶²	Frezzini C...Porter S	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	de Haar SF...Beertsen W	15108292	2004
38	Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients. ⁵³ ⁶²	Zhang Y...Hart TC	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	Allende LM...Arnaiz-Villena A	10712675	2000
40	Temporal effects of two interferential current applications on peripheral circulation in children with hemiplegic cerebral palsy. ⁶²	Mohamed NE...Sanad DAM	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	Ralph E...Harvey A	36097697	2023
43	Association Between Clinical Symptoms, Electrodiagnostic Findings, Clinical Outcome, and Prodromal Symptoms in Patients With Bell's Palsy. ⁶²	Chae SA...Chon J	35109694	2023
44	Elbow flexion contractures in neonatal brachial plexus palsy: A one-year comparison of dynamic orthosis and serial casting. ⁶²	Op de Coul LS...Steenbeek D	36004384	2023
45	Blade plate versus locking plate fixation of proximal femoral varus osteotomy in children with cerebral palsy. ⁶²	Oladeji AK...Hosseinzadeh P	35170574	2023
46	Clinical course of pain intensity in individuals with cerebral palsy: A prognostic systematic review. ⁶²	Shearer HM...Fehlings DL	35871758	2023
47	Evaluation of a technique of patellar tendon shortening to correct patella alta associated with severe crouch gait in cerebral palsy. ⁶²	Mohan V...Shah H	36445353	2023
48	The effect of medial only versus medial and lateral hamstring lengthening on transverse gait parameters in cerebral palsy. ⁶²	Bezuidenhout L...Shrader MW	36445368	2023
49	Gross motor function prediction using natural language processing in cerebral palsy. ⁶²	Greve K...Mitelpunkt A	35665923	2023
50	Adverse events after different forms of botulinum neurotoxin A injections in children with cerebral palsy: An 8-year retrospective study. ⁶²	Li J...Xu K	35674175	2023

Sources

Genes for Papillon-Lefevre Syndrome

Genes/enhancers related to Papillon-Lefevre Syndrome (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CTSC	Cathepsin C	Protein Coding	1724.77	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	10581027 10593994 10662808 (more) 11106356 11180012 11886537 12112662 28242153 28317349 29410039 30908832 16199547 33586345 16460249 11158173 16410452 14974080 10662807 15727652 18841559 15585850 15108292 15679120 15525320 16128836
1	CTSC::GH11J088334	TSS distance: +23.1kb Elite enhancer with elite association with CTSC			Curated enhancer-disease association ²³ ( 27569544)	23108224
2	GZMB	Granzyme B	Protein Coding	12.35	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	ITGAL	Integrin Subunit Alpha L	Protein Coding	8.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10712675
4	CTSG	Cathepsin G	Protein Coding	7.32	DISEASES inferred ¹⁴
5	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	6.75	DISEASES inferred ¹⁴ ¹⁴
6	ELANE	Elastase, Neutrophil Expressed	Protein Coding	6.6	DISEASES inferred ¹⁴
7	SIGLEC5	Sialic Acid Binding Ig Like Lectin 5	Protein Coding	6.56	DISEASES inferred ¹⁴ ¹⁴
8	PRTN3	Proteinase 3	Protein Coding	6.26	DISEASES inferred ¹⁴
9	CAMP	Cathelicidin Antimicrobial Peptide	Protein Coding	6.16	DISEASES inferred ¹⁴
10	PRSS57	Serine Protease 57	Protein Coding	5.91	DISEASES inferred ¹⁴
11	CTSL	Cathepsin L	Protein Coding	5.3	DISEASES inferred ¹⁴
12	PADI4	Peptidyl Arginine Deiminase 4	Protein Coding	5.21	DISEASES inferred ¹⁴
13	CMA1	Chymase 1	Protein Coding	5.14	DISEASES inferred ¹⁴
14	CST7	Cystatin F	Protein Coding	5.1	DISEASES inferred ¹⁴
15	ITGB2	Integrin Subunit Beta 2	Protein Coding	5.09	DISEASES inferred ¹⁴
16	LYST	Lysosomal Trafficking Regulator	Protein Coding	5.07	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Papillon-Lefevre Syndrome

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

Sources

Pathways for Papillon-Lefevre Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.51	SIGLEC5 PRTN3 ITGB2 ITGAL ELANE CTSL
2	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.08	ITGB2 ITGAL ELANE CTSL CTSG CMA1
3	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.74	SIGLEC5 ITGB2 ITGAL
4	Matrix metalloproteinases ⁷⁴ Show member pathways Activation of Matrix Metalloproteinases ⁶⁶ Inhibition of Matrix Metalloproteinases ⁶⁴	11.54	ELANE CTSG CMA1
5	CCL18 signaling pathway ⁷⁴	11.48	ITGB2 ITGAL CCR6
6	Defensins ⁶⁶ Show member pathways Alpha-defensins ⁶⁶ Antimicrobial peptides ⁶⁶ Beta defensins ⁶⁶ Ion influx/efflux at host-pathogen interface ⁶⁶ Metal sequestration by antimicrobial proteins ⁶⁶	11.33	PRTN3 ELANE CTSG CCR6 CAMP
7	Beta2 integrin cell surface interactions ⁶¹	10.92	ITGB2 ITGAL
8	Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling ⁶¹	10.92	ITGB2 ELANE CTSG
9	Genes associated with the development of rheumatoid arthritis ⁷⁴	10.66	PADI4 CCR6

Sources

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