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AP1
MCID: PRD039
MIFTS: 59

Periodontitis, Aggressive, 1 (AP1)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Periodontitis, Aggressive, 1

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MalaCards integrated aliases for Periodontitis, Aggressive, 1:

Name: Periodontitis, Aggressive, 1 57
Pustulosis Palmaris Et Plantaris 19 58 53 31
Ppp 57 19 58 73
Localized Pustular Psoriasis 19 58 71
Periodontitis, Juvenile 57 12 71
Periodontitis, Aggressive 1 28 5
Periodontitis 1, Juvenile 57 38
Prepubertal Periodontitis 73 53
Palmoplantar Pustulosis 19 58
Jpd 57 73
Lpp 19 58
Generalized Pustular Psoriasis 71
Periodontititis, Aggressive, 1 73
Pustulosis of Palms and Soles 71
Periodontitis, Prepubertal 57
Juvenile Periodontitis 73
Periodontitis Juvenile 53
Ap1 73

Characteristics:


Inheritance:

Periodontitis, Aggressive, 1: Autosomal recessive 57
Pustulosis Palmaris Et Plantaris: Autosomal dominant,Autosomal recessive 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
allelic to papillon-lefevre syndrome and haim-munk syndrome


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Bone diseases Gastrointestinal diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 170650
MeSH 43 D010520
ICD10 31 L40.3
ICD10 via Orphanet 32 L40.3
UMLS via Orphanet 72 C0030246
Orphanet 58 ORPHA163927
SNOMED-CT via HPO 69 234974002 42756003 4356008
UMLS 71 C0030246 C0031106 C0263365 more
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Summaries for Periodontitis, Aggressive, 1

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OMIM®: 57 Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting (American Academy of Periodontology, 2000). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression (Armitage, 1999). (170650) (Updated 08-Dec-2022)

MalaCards based summary: Periodontitis, Aggressive, 1, also known as pustulosis palmaris et plantaris, is related to psoriasis 14, pustular and acrodermatitis. An important gene associated with Periodontitis, Aggressive, 1 is CTSC (Cathepsin C), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Ixekizumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are severe periodontitis and premature loss of teeth

GARD: 19 Pustulosis palmaris et plantaris (PPP) is a rare and chronic inflammatory condition that primarily affects the palms of the hands and soles of the feet. Signs and symptoms of the condition generally develop during adulthood and include crops of pustules on one or both hands and/or feet that erupt repeatedly over time. Affected individuals may also experience itching (pruritus), pain, or a burning sensation. The classification of PPP is controversial. Some have proposed that PPP is a variant of psoriasis, while others believe it to be a separate disease. Though the area of involvement is often limited, PPP can have a significant effect on quality of life and can interfere with walking or other daily activities.

Orphanet: 58 A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.

UniProtKB/Swiss-Prot: 73 A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting.
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Related Diseases for Periodontitis, Aggressive, 1

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Diseases in the Aggressive Periodontitis family:

Periodontitis, Aggressive, 1 Periodontitis, Aggressive, 2

Diseases related to Periodontitis, Aggressive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 539)
# Related Disease Score Top Affiliating Genes
1 psoriasis 14, pustular 31.9 IL36RN AP1S3
2 acrodermatitis 30.7 IL36RN AP1S3
3 periapical periodontitis 30.7 MMP8 IL1A
4 pustulosis of palm and sole 30.6 IL36RN AP1S3
5 aggressive periodontitis 30.4 MMP8 MMP1 LTF IL1A FPR1 ELANE
6 psoriasis 15 30.3 IL36RN AP1S3
7 psoriatic arthritis 30.3 SELE MMP1 IL1A HLA-B
8 synovitis 30.2 SELE MMP8 MMP1 IL1A
9 periodontitis, chronic 30.1 MMP8 MMP1
10 alopecia areata 30.1 IL36RN IL1A HLA-B
11 impetigo 30.0 IL36RN ELANE
12 psoriasis 11 30.0 IL36RN IL1A
13 pyoderma 29.9 MMP1 ITGB2 IL36RN
14 behcet syndrome 29.9 SELE IL36RN IL1A HLA-B
15 proteasome-associated autoinflammatory syndrome 1 29.8 SELE IL1A ELANE
16 pustular psoriasis 29.8 ELANE AP1S3
17 reactive arthritis 29.7 MMP8 MMP1 LTF HLA-B
18 gastroschisis 29.7 MMP8 MMP1
19 pyoderma gangrenosum 29.6 MMP1 ITGB2
20 graves' disease 29.6 SELE IL1A HLA-B
21 arthritis 29.5 MMP8 MMP1 IL1A HLA-B
22 gingivitis 29.4 SELE MMP8 MMP1 LTF IL1A ELANE
23 periodontitis 29.4 MMP8 MMP1 IL1A ELANE CTSC
24 venous insufficiency 29.3 MMP1 IL1A ELANE
25 papillon-lefevre syndrome 29.3 ITGB2 ELANE CTSC
26 vasculitis 29.1 SELE LTF ITGB2 HLA-B ELANE
27 interstitial lung disease 2 28.9 MMP8 MMP1 IL1A ELANE
28 immune deficiency disease 28.8 MMP8 ITGB2 IL1A HLA-B
29 diabetes mellitus 28.3 SELE MMP1 ITGB2 IL1A HLA-B ELANE
30 skin disease 28.2 SELE MMP1 ITGB2 IL36RN IL1A HLA-B
31 inflammatory bowel disease 27.9 SELE MMP1 LTF ITGB2 IL1A HLA-B
32 psoriasis 27.9 SELE ITGB2 IL36RN IL1A HLA-B ELANE
33 rheumatoid arthritis 27.8 SELE MMP8 MMP1 LTF ITGB2 IL1A
34 susceptibility to localized juvenile periodontitis 11.3
35 paget disease of bone 5, juvenile-onset 11.3
36 lichen planus pemphigoides 11.2
37 lipomatosis, multiple 11.2
38 frontal fibrosing alopecia 11.2
39 lichen planus pigmentosus 11.1
40 periodontosis 11.1
41 isolated sternocostoclavicular hyperostosis 11.1
42 tetralogy of fallot 11.1
43 esophageal atresia 11.1
44 pigmented purpuric eruption 11.0
45 pneumonic plague 10.9
46 prostate carcinoma in situ 10.9
47 primary central nervous system lymphoma 10.9
48 schizophrenia 10.9
49 vacterl association, x-linked, with or without hydrocephalus 10.9
50 leukemia, acute myeloid 10.9

Graphical network of the top 20 diseases related to Periodontitis, Aggressive, 1:



Diseases related to Periodontitis, Aggressive, 1
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Symptoms & Phenotypes for Periodontitis, Aggressive, 1

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Human phenotypes related to Periodontitis, Aggressive, 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 severe periodontitis 30 Very rare (1%) HP:0000166
2 premature loss of teeth 30 HP:0006480
3 gingival recession 30 HP:0030816

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Mouth:
gingival recession
severe, early-onset periodontitis
alveolar bone destruction

Skin Nails Hair Skin:
no palmoplantar keratosis

Head And Neck Teeth:
premature tooth loss

Clinical features from OMIM®:

170650 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Periodontitis, Aggressive, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 CTSC ELANE FPR1 IL1A IL36RN ITGB2
2 normal MP:0002873 9.8 CTSC ELANE HLA-B IL36RN ITGB2 LTF
3 neoplasm MP:0002006 9.72 ELANE IL1A LTF MMP1 MMP8
4 immune system MP:0005387 9.7 CTSC ELANE FPR1 HLA-B IL1A IL36RN
5 hematopoietic system MP:0005397 9.28 CTSC ELANE FPR1 HLA-B IL1A IL36RN
Sources

Drugs & Therapeutics for Periodontitis, Aggressive, 1

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Drugs for Periodontitis, Aggressive, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ixekizumab Approved, Investigational Phase 4 1143503-69-8
2 Dermatologic Agents Phase 4
3
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
4
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
5
Adalimumab Approved, Experimental Phase 3 331731-18-1
6
Certolizumab pegol Approved Phase 2, Phase 3 428863-50-7
7
Apremilast Approved, Investigational Phase 3 608141-41-9 10151715 11561674
8
Brodalumab Approved, Investigational Phase 3 1174395-19-7
9 Immunologic Factors Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Analgesics Phase 3
12 Antirheumatic Agents Phase 3
13 Phosphodiesterase Inhibitors Phase 3
14 Phosphodiesterase 4 Inhibitors Phase 3
15 Anti-Inflammatory Agents, Non-Steroidal Phase 3
16 Analgesics, Non-Narcotic Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Pharmaceutical Solutions Phase 3
19 Immunoglobulins Phase 3
20 Antibodies, Monoclonal Phase 3
21 Antibodies Phase 3
22
Alefacept Approved, Investigational, Withdrawn Phase 2 222535-22-0
23 Interleukin 1 Receptor Antagonist Protein Phase 2
24
Lenograstim Approved, Investigational Phase 1 135968-09-1
25 Adjuvants, Immunologic Phase 1

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-Label, Post Marketing Clinical Trial to Evaluate the Efficacy And Safety Of Ixekizumab in Patients With Generalized Pustular Psoriasis and Erythrodermic Psoriasis Completed NCT03942042 Phase 4 Ixekizumab
2 A Phase 3, Multicenter, Randomized, Double-blind, Placebo Controlled Study Evaluating the Efficacy and Safety of Guselkumab for the Treatment of Subjects With Palmoplantar Pustulosis Completed NCT02641730 Phase 3 Guselkumab;Placebo
3 A Phase 3, Multicenter, Randomized, Placebo-Controlled, Double-Blind Study to Evaluate Risankizumab in Adult Japanese Subjects With Moderate to Severe Palmoplantar Pustulosis Completed NCT04451720 Phase 3 Risankizumab;Placebo
4 A 52-week, Multicenter, Randomized, Double-blind, Placebo-controlled Study of Subcutaneous Secukinumab to Demonstrate Efficacy as Assessed by Palmoplantar Pustulosis Psoriasis Area and Severity Index (ppPASI) at 16 Weeks of Treatment, Compared to Placebo, and to Assess Long-term Safety, Tolerability, and Efficacy in Subjects With Moderate to Severe Chronic Palmoplantar Pustular Psoriasis - Amended With an Optional Extension Treatment Period of up to a Total of 148 Weeks Completed NCT02008890 Phase 3
5 A Multi-center, Open Label Study of Subcutaneous Secukinumab in Prefilled Syringes as Mono- or Co-therapy to Assess the Efficacy, Safety and Tolerability in Japanese Subjects With Generalized Pustular Psoriasis Completed NCT01952015 Phase 3
6 A Phase 3, Randomized, Open-Label Study to Assess Efficacy and Safety of Two Different Dose Regimens of Risankizumab Administered Subcutaneously in Japanese Subjects With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Completed NCT03022045 Phase 3 risankizumab
7 A Phase 3, Multicenter, Open-Label Study Evaluating the Efficacy and Safety of CNTO1959 (Guselkumab) in the Treatment of Subjects With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Completed NCT02343744 Phase 3 Guselkumab
8 A Multicenter, Open-Label Study of Adalimumab in Japanese Subjects With Generalized Pustular Psoriasis Completed NCT02533375 Phase 3 Adalimumab
9 Phase 2/3, Multicenter, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Study To Evaluate the Efficacy and Safety of Certolizumab Pegol in Japanese Subjects With Moderate to Severe Chronic Psoriasis Completed NCT03051217 Phase 2, Phase 3 Certolizumab Pegol
10 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Apremilast (AMG 407) in Japanese Subjects With Palmoplantar Pustulosis (PPP) Recruiting NCT05174065 Phase 3 Apremilast;Placebo
11 Multi-centre, Open-label, Expanded Access Program of 900mg Intravenous (i.v.) Spesolimab in Patients With Generalized Pustular Psoriasis (GPP) Presenting With a Flare Recruiting NCT05239039 Phase 3 spesolimab
12 Multi-centre, Open-label, Expanded Access Trial of Spesolimab i.v. in Patients With Generalized Pustular Psoriasis (GPP) Presenting With a Flare Recruiting NCT05200247 Phase 3 spesolimab
13 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Imsidolimab (ANB019) in the Treatment of Adult Subjects With Generalized Pustular Psoriasis Recruiting NCT05352893 Phase 3 Imsidolimab high dose;Imsidolimab low dose
14 A Phase 3, Long-Term Extension Study to Evaluate the Safety and Efficacy of Imsidolimab (ANB019) in the Treatment of Adult Subjects With Generalized Pustular Psoriasis Recruiting NCT05366855 Phase 3
15 A Phase 3, Placebo-Controlled, Double-Blind Comparative Study of KHK4827 With an Open-Label Extension in Subjects With Palmoplantar Pustulosis Active, not recruiting NCT04061252 Phase 3 KHK4827;Placebo
16 A Pilot Open-Label Study to Evaluate the Safety and Observe the Effectiveness of 16 Weeks of Alefacept in Palmar Plantar Pustulosis (IST 92) Completed NCT00301002 Phase 2 Alefacept
17 A Multicenter, Open Label, Single-arm Pilot Study to Evaluate the Efficacy and Safety of Oral Apremilast in Patients With Moderate to Severe Palmoplantar Pustulosis (PPP) (APLANTUS) Completed NCT04572997 Phase 2 Apremilast
18 Multi-center, Double-blind, Randomised, Placebo-controlled, Phase IIb Dose-finding Study to Evaluate Safety and Efficacy of Different Subcutaneous Doses of BI 655130 in Patients With Moderate to Severe Palmoplantar Pustulosis (PPP) Completed NCT04015518 Phase 2 Spesolimab;Placebo
19 A Phase 2, Randomized, Placebo-controlled, Double-blind, Multiple Dose Study to Evaluate the Efficacy and Safety of ANB019 in Subjects With Palmoplantar Pustulosis Completed NCT03633396 Phase 2 Placebo
20 A Randomized, Double-Blind, Placebo-Controlled, Phase 2a Study to Evaluate the Efficacy and Safety of RIST4721 in Subjects With Palmoplantar Pustulosis Completed NCT03988335 Phase 2 RIST4721;Placebo
21 A Phase 2 Study of Anakinra in Inflammatory Pustular Dermatoses: Evaluation of Therapeutic Efficacy and Validation of Pathogenic Mechanisms Completed NCT01794117 Phase 2 Anakinra
22 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Assess the Efficacy, Safety and Tolerability of CNTO 1959, a Human Anti-IL 23 Monoclonal Antibody, Following Subcutaneous Administration in Subjects With Palmoplantar Pustulosis Completed NCT01845987 Phase 2 Placebo;CNTO 1959
23 A Phase 2, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Apremilast (CC-10004) in the Treatment of Palmoplantar Pustulosis in Japan Completed NCT04057937 Phase 2 Apremilast;Placebo
24 Multi-center, Double-blind, Randomised, Placebo-controlled, Phase IIa Study to Investigate Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacogenomics of Multiple Intravenous Doses of BI 655130 in Patients With Palmoplantar Pustulosis (PPP) Completed NCT03135548 Phase 2 Spesolimab (low dose);Placebo;Spesolimab (high dose)
25 Effisayil™ 1:Multi-center, Double-blind, Randomised, Placebo-controlled, Phase II Study to Evaluate Efficacy, Safety and Tolerability of a Single Intravenous Dose of Spesolimab (BI 655130) in Patients With Generalized Pustular Psoriasis (GPP) Presenting With an Acute Flare of Moderate to Severe Intensity Completed NCT03782792 Phase 2 Spesolimab;Placebo
26 A Single Arm Multiple Dose Study to Assess the Efficacy and Safety of ANB019 in Subjects With Generalized Pustular Psoriasis Completed NCT03619902 Phase 2
27 A Randomized, Double-blind, Placebo-controlled, Dose Ranging Phase 2 Study to Evaluate the Efficacy and Safety of RIST4721 in Subjects With Palmoplantar Pustulosis Recruiting NCT05194839 Phase 2 RIST4721;Placebo
28 Effisayil™ ON: An Open-label, Long Term Extension Study to Assess the Safety and Efficacy of Spesolimab Treatment in Patients With Generalized Pustular Psoriasis (GPP) Recruiting NCT03886246 Phase 2 Spesolimab
29 An Open-label, Long Term Safety Trial of Spesolimab Treatment in Patients With Palmoplantar Pustulosis (PPP) Who Have Completed Previous BI Spesolimab Trials Active, not recruiting NCT04493424 Phase 2 Spesolimab
30 Effisayil™ 2: Multi-center, Randomized, Parallel Group, Double Blind, Placebo Controlled, Phase IIb Dose-finding Study to Evaluate Efficacy and Safety of BI 655130 (Spesolimab) Compared to Placebo in Preventing Generalized Pustular Psoriasis (GPP) Flares in Patients With History of GPP Active, not recruiting NCT04399837 Phase 2 Spesolimab;Placebo
31 Double-blind, Randomized, Right-left Study Comparing TEPSO® Socks With Standard Socks in Improving Palmoplantar Pustulosis Terminated NCT01197989 Phase 2
32 A Multicenter, Open-label, 2-regimen, Repeat-dose Study to Assess the Safety and Pharmacokinetics of Intravenous CSL324 in Subjects With Hidradenitis Suppurativa and Palmoplantar Pustulosis Completed NCT03972280 Phase 1
33 Multi-centre, Open-label, Single Arm, Phase I Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacogenomics and Efficacy of a Single Intravenous Dose of BI 655130 in Patients With Active Generalized Pustular Psoriasis. Completed NCT02978690 Phase 1 BI655130
34 Multi-centre, Open-label, Single-arm, Phase Ib Study to Evaluate the Safety, Pharmacokinetics, and Efficacy of a Single Dose of HB0034 in Patients Acute Generalized Pustular Psoriasis (GPP) Flare Recruiting NCT05512598 Phase 1 HB0034
35 Pilot Study on Oral Health Status Chairside Mouthrinse Test in Finnish Adolescents and Cost Effectiveness of the Test Unknown status NCT04139863
36 Palmoplantar Pustulosis and Generalized Pustular Psoriasis: A National Population-based Analysis of Prevalence Unknown status NCT04566471
37 The Immune Signature of Palmoplantar Pustulosis Completed NCT01780857
38 Registry of Palmoplantar Pustulosis (PPP) Treatment Patterns, Disease Burden and Treatment Outcomes in Japan Recruiting NCT04459507

Search NIH Clinical Center for Periodontitis, Aggressive, 1

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Genetic Tests for Periodontitis, Aggressive, 1

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Genetic tests related to Periodontitis, Aggressive, 1:

# Genetic test Affiliating Genes
1 Periodontitis, Aggressive 1 28 CTSC
Sources

Anatomical Context for Periodontitis, Aggressive, 1

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Organs/tissues related to Periodontitis, Aggressive, 1:

MalaCards : Skin, Bone, Thyroid, Neutrophil, Tonsil, T Cells, Whole Blood
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Publications for Periodontitis, Aggressive, 1

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Articles related to Periodontitis, Aggressive, 1:

(show top 50) (show all 1741)
# Title Authors PMID Year
1
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 53 62 57 5
14974080 2004
2
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. 62 57 5
10662808 2000
3
Possible autosomal-dominant inheritance of prepubertal periodontitis in an extended kindred. 62 57
9205917 1997
4
Re-interpretation of the evidence for X-linked dominant inheritance of juvenile periodontitis. 62 57
1593411 1992
5
No female preponderance in juvenile periodontitis after correction for ascertainment bias. 62 57
1765937 1991
6
Defective polymorphonuclear leukocyte formyl peptide receptor(s) in juvenile periodontitis. 62 57
1999504 1991
7
Genetic analysis of juvenile periodontitis in families ascertained through an affected proband. 62 57
3578282 1987
8
An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. 62 57
3793857 1986
9
Autosomal recessive inheritance of juvenile periodontitis: test of a hypothesis. 62 57
6713708 1984
10
Reduced chemotactic peptide binding in juvenile periodontitis: a model for neutrophil function. 62 57
6268085 1981
11
Neutrophil chemotaxis dysfunction in human periodontitis. 62 57
7358424 1980
12
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 5
29410039 2018
13
[Papillon-Lefèvre syndrome: A new case]. 5
28242153 2017
14
[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome]. 5
28317349 2016
15
A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis. 57
19897590 2010
16
Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. 57
19214202 2009
17
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
18
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 5
12112662 2002
19
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 5
11886537 2001
20
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients. 5
11106356 2000
21
Parameter on aggressive periodontitis. American Academy of Periodontology. 57
10875695 2000
22
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 5
10581027 1999
23
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 5
10593994 1999
24
Reevaluation of the chromosome 4q candidate region for early onset periodontitis. 57
8100208 1993
25
Association between HLA antigens and periodontal disease. 57
3163857 1988
26
Early onset periodontitis: a comparison and evaluation of two proposed modes of inheritance. 57
3569875 1987
27
Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentition. 57
6579461 1983
28
Genetic and environmental determinants of periodontal disease. 57
495651 1979
29
Periodontosis: a phenotypic and genetic analysis. 57
1065840 1976
30
Periodontosis in sibs. 57
1054138 1975
31
A proposed classification for heritable human dentine defects with a description of a new entity. 57
4516067 1973
32
Familial patterns of advanced alveolar bone loss in adolescence (periodontosis). 57
5228312 1967
33
Dentinogenesis imperfecta in a racial isolate with multiple hereditary defects. 57
13322427 1956
34
Association between lactoferrin gene polymorphisms and aggressive periodontitis among Taiwanese patients. 53 62
18973542 2009
35
Identification of genetic risk factors for periodontitis and possible mechanisms of action. 53 62
16128836 2005
36
One of two human lactoferrin variants exhibits increased antibacterial and transcriptional activation activities and is associated with localized juvenile periodontitis. 53 62
14573629 2003
37
Defective Gi protein coupling in two formyl peptide receptor mutants associated with localized juvenile periodontitis. 53 62
11559706 2001
38
Contrasting evolution of the human leukocyte N-formylpeptide receptor subtypes FPR and FPRL1R. 53 62
11607790 2001
39
Genetic polymorphisms of the IL-1alpha and IL-1beta genes in African-American LJP patients and an African-American control population. 53 62
10872952 2000
40
Levels of proelafin peptides in the sera of the patients with generalized pustular psoriasis and pustulosis palmoplantaris. 53 62
10877128 2000
41
Soluble E-selectin as a marker of disease activity in pustulosis palmaris et plantaris. 53 62
10598762 1999
42
Single nucleotide polymorphisms of the N-formyl peptide receptor in localized juvenile periodontitis. 53 62
10534074 1999
43
Matrix metalloproteinases and their inhibitors in gingival crevicular fluid and saliva of periodontitis patients. 53 62
8997658 1996
44
Peroxidases, lactoferrin and lysozyme in peripheral blood neutrophils, gingival crevicular fluid and whole saliva of patients with localized juvenile periodontitis. 53 62
8957925 1996
45
Neutrophil function in juvenile periodontitis: induction of adherence. 53 62
7808767 1994
46
Salivary collagenase, elastase- and trypsin-like proteases as biochemical markers of periodontal tissue destruction in adult and localized juvenile periodontitis. 53 62
8265204 1993
47
Medullasin levels in neutrophils of patients with pustulosis palmaris et plantaris. 53 62
8315109 1993
48
Tetracycline inhibition identifies the cellular sources of collagenase in gingival crevicular fluid in different forms of periodontal diseases. 53 62
1425210 1992
49
Evidence that the serotype b antigenic determinant of Actinobacillus actinomycetemcomitans Y4 resides in the polysaccharide moiety of lipopolysaccharide. 53 62
1706323 1991
50
Survey of the treatment outcome of patients with pustulotic arthro-osteitis associated with palmoplantar pustulosis. 62
35983683 2022
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Variations for Periodontitis, Aggressive, 1

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ClinVar genetic disease variations for Periodontitis, Aggressive, 1:

5 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSC NM_001814.6(CTSC):c.1141del (p.Leu381fs) DEL Pathogenic
 523939 rs772132996 GRCh37: 11:88027425-88027425
GRCh38: 11:88294257-88294257
2 CTSC NM_001814.6(CTSC):c.1047del (p.Gly350fs) DEL Pathogenic
 7293 GRCh37: 11:88027519-88027519
GRCh38: 11:88294351-88294351
3 CTSC NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter) SNV Pathogenic
 1398717 GRCh37: 11:88042402-88042402
GRCh38: 11:88309234-88309234
4 CTSC NM_001814.6(CTSC):c.268C>T (p.Gln90Ter) SNV Pathogenic
 1424145 GRCh37: 11:88068155-88068155
GRCh38: 11:88334987-88334987
5 CTSC NM_001814.6(CTSC):c.754C>T (p.Gln252Ter) SNV Pathogenic
 1455525 GRCh37: 11:88033701-88033701
GRCh38: 11:88300533-88300533
6 CTSC NM_001814.6(CTSC):c.555dup (p.Thr186fs) DUP Pathogenic
 1351279 GRCh37: 11:88042416-88042417
GRCh38: 11:88309248-88309249
7 CTSC NM_001814.6(CTSC):c.783del (p.Phe261fs) DEL Pathogenic
 1352166 GRCh37: 11:88029407-88029407
GRCh38: 11:88296239-88296239
8 CTSC NM_001814.6(CTSC):c.815G>A (p.Arg272His) SNV Pathogenic
 139656 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
9 CTSC NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) SNV Pathogenic
 7301 rs104894211 GRCh37: 11:88027526-88027526
GRCh38: 11:88294358-88294358
10 CTSC NM_001814.6(CTSC):c.1235A>G (p.Tyr412Cys) SNV Pathogenic
 7300 rs28937571 GRCh37: 11:88027331-88027331
GRCh38: 11:88294163-88294163
11 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV Pathogenic
 139655 GRCh37: 11:88070745-88070745
GRCh38: 11:88337577-88337577
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.203T>G (p.Leu68Arg) SNV Pathogenic
 839668 rs199474831 GRCh37: 11:88068220-88068220
GRCh38: 11:88335052-88335052
14 CTSC NM_001814.6(CTSC):c.-55C>A SNV Pathogenic
 1075099 GRCh37: 11:88070895-88070895
GRCh38: 11:88337727-88337727
15 CTSC NM_001814.6(CTSC):c.1096del (p.His366fs) DEL Pathogenic
 935708 GRCh37: 11:88027470-88027470
GRCh38: 11:88294302-88294302
16 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV Pathogenic
 7297 GRCh37: 11:88027665-88027665
GRCh38: 11:88294497-88294497
17 CTSC NC_000011.9:g.(?_88045475)_(88071056_?)del DEL Pathogenic
 1457970 GRCh37: 11:88045475-88071056
GRCh38:
18 CTSC NM_001814.6(CTSC):c.855dup (p.Gln286fs) DUP Likely Pathogenic
 575092 GRCh37: 11:88029334-88029335
GRCh38: 11:88296166-88296167
19 CTSC NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) SNV Likely Pathogenic
 548504 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
20 CTSC NC_000011.9:g.(?_88040961)_(88042398_?)del DEL Likely Pathogenic
 1506173 GRCh37: 11:88040961-88042398
GRCh38:
21 CTSC NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys) SNV Uncertain Significance
 1475798 GRCh37: 11:88045592-88045592
GRCh38: 11:88312424-88312424
22 CTSC NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser) SNV Uncertain Significance
 1488429 GRCh37: 11:88027373-88027373
GRCh38: 11:88294205-88294205
23 CTSC NM_001814.6(CTSC):c.769A>G (p.Ser257Gly) SNV Uncertain Significance
 1500247 GRCh37: 11:88029421-88029421
GRCh38: 11:88296253-88296253
24 CTSC NM_001814.6(CTSC):c.140G>T (p.Gly47Val) SNV Uncertain Significance
 1506896 GRCh37: 11:88070701-88070701
GRCh38: 11:88337533-88337533
25 CTSC NM_001814.6(CTSC):c.318+4_318+7del DEL Uncertain Significance
 1019816 GRCh37: 11:88068098-88068101
GRCh38: 11:88334930-88334933
26 CTSC NM_001814.6(CTSC):c.29C>T (p.Ala10Val) SNV Uncertain Significance
 306432 rs765499436 GRCh37: 11:88070812-88070812
GRCh38: 11:88337644-88337644
27 CTSC NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys) SNV Uncertain Significance
 640536 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
28 CTSC NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) SNV Uncertain Significance
 647363 rs200627023 GRCh37: 11:88027365-88027365
GRCh38: 11:88294197-88294197
29 CTSC NM_001814.6(CTSC):c.259A>G (p.Ile87Val) SNV Uncertain Significance
 548698 rs45447392 GRCh37: 11:88068164-88068164
GRCh38: 11:88334996-88334996
30 CTSC NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp) SNV Uncertain Significance
 534588 GRCh37: 11:88027277-88027277
GRCh38: 11:88294109-88294109
31 CTSC NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) SNV Uncertain Significance
 880809 rs146182103 GRCh37: 11:88027242-88027242
GRCh38: 11:88294074-88294074
32 CTSC NM_001814.6(CTSC):c.252C>G (p.Phe84Leu) SNV Uncertain Significance
 1435980 GRCh37: 11:88068171-88068171
GRCh38: 11:88335003-88335003
33 CTSC NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp) SNV Uncertain Significance
 1446879 GRCh37: 11:88027248-88027248
GRCh38: 11:88294080-88294080
34 CTSC NM_001814.6(CTSC):c.806C>T (p.Ala269Val) SNV Uncertain Significance
 1381855 GRCh37: 11:88029384-88029384
GRCh38: 11:88296216-88296216
35 CTSC NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) SNV Uncertain Significance
 306423 rs748729285 GRCh37: 11:88029318-88029318
GRCh38: 11:88296150-88296150
36 CTSC NC_000011.10:g.(?_88293986)_(88337727_?)dup DUP Uncertain Significance
 830637 GRCh37: 11:88027154-88070895
GRCh38:
37 CTSC NM_001814.6(CTSC):c.1169A>G (p.His390Arg) SNV Uncertain Significance
 834209 GRCh37: 11:88027397-88027397
GRCh38: 11:88294229-88294229
38 CTSC NM_001814.6(CTSC):c.629G>A (p.Arg210Gln) SNV Uncertain Significance
 1060707 GRCh37: 11:88042343-88042343
GRCh38: 11:88309175-88309175
39 CTSC NM_001814.6(CTSC):c.53G>A (p.Gly18Asp) SNV Uncertain Significance
 1353074 GRCh37: 11:88070788-88070788
GRCh38: 11:88337620-88337620
40 CTSC NM_001814.6(CTSC):c.615T>G (p.Ser205Arg) SNV Uncertain Significance
 1386283 GRCh37: 11:88042357-88042357
GRCh38: 11:88309189-88309189
41 CTSC NC_000011.9:g.(?_88027174)_(88029452_?)dup DUP Uncertain Significance
 1373952 GRCh37: 11:88027174-88029452
GRCh38:
42 CTSC NM_001814.6(CTSC):c.719T>G (p.Val240Gly) SNV Uncertain Significance
 1377264 GRCh37: 11:88033736-88033736
GRCh38: 11:88300568-88300568
43 CTSC NM_001814.6(CTSC):c.946C>G (p.Leu316Val) SNV Uncertain Significance
 1395626 GRCh37: 11:88027620-88027620
GRCh38: 11:88294452-88294452
44 CTSC NM_001814.6(CTSC):c.21G>T (p.Leu7Phe) SNV Uncertain Significance
 1400344 GRCh37: 11:88070820-88070820
GRCh38: 11:88337652-88337652
45 CTSC NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr) SNV Uncertain Significance
 1363483 GRCh37: 11:88027406-88027406
GRCh38: 11:88294238-88294238
46 CTSC NM_001814.6(CTSC):c.790A>C (p.Met264Leu) SNV Uncertain Significance
 575218 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
47 CTSC NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys) SNV Uncertain Significance
 643044 GRCh37: 11:88027263-88027263
GRCh38: 11:88294095-88294095
48 CTSC NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) SNV Uncertain Significance
 646118 rs575727793 GRCh37: 11:88045646-88045646
GRCh38: 11:88312478-88312478
49 CTSC NM_001814.6(CTSC):c.790A>G (p.Met264Val) SNV Uncertain Significance
 647418 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
50 CTSC NM_001814.6(CTSC):c.1325G>A (p.Arg442His) SNV Uncertain Significance
 647623 GRCh37: 11:88027241-88027241
GRCh38: 11:88294073-88294073

UniProtKB/Swiss-Prot genetic disease variations for Periodontitis, Aggressive, 1:

73
# Symbol AA change Variation ID SNP ID
1 CTSC p.Tyr347Cys VAR_009546 rs104894211
2 CTSC p.Tyr412Cys VAR_019047 rs28937571

Sources

Expression for Periodontitis, Aggressive, 1

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Search GEO for disease gene expression data for Periodontitis, Aggressive, 1.
Sources

Pathways for Periodontitis, Aggressive, 1

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Pathways related to Periodontitis, Aggressive, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 12.92 MMP8 MMP1 LTF ITGB2 IL36RN IL1A
2
Cytokine Signaling in Immune system 66
Show member pathways
 12.81 FPR1 HLA-B IL1A IL36RN ITGB2 MMP1
3
Extracellular matrix organization 66
Show member pathways
 12.38 MMP8 MMP1 ITGB2 ELANE
4
Complement cascade 66
Show member pathways
 12.23 SELE ITGB2 FPR1 ELANE
5
Cell surface interactions at the vascular wall 66
Show member pathways
 11.87 SELE MMP1 ITGB2
6
Interleukin-4 and Interleukin-13 signaling 66
11.61 MMP1 ITGB2 IL1A
7
Matrix metalloproteinases 74
Show member pathways
 11.5 MMP8 MMP1 ELANE
8
Photodynamic therapy-induced NF-kB survival signaling 74
Show member pathways
 11.13 SELE MMP1 IL1A
9
2q13 copy number variation syndrome 74
11.11 IL36RN IL1A
10
Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling 61
11.07 ITGB2 ELANE
11
Cell adhesion_Cell-matrix glycoconjugates 22
10.72 SELE MMP1 ELANE
Sources

GO Terms for Periodontitis, Aggressive, 1

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Cellular components related to Periodontitis, Aggressive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.65 LTF ITGB2 IL1A HLA-B ELANE
2 specific granule lumen GO:0035580 9.1 MMP8 LTF ELANE

Biological processes related to Periodontitis, Aggressive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.07 MMP8 MMP1 LTF ELANE CTSC
2 inflammatory response GO:0006954 9.96 FPR1 IL1A IL36RN ITGB2 SELE
3 positive regulation of leukocyte tethering or rolling GO:1903238 9.71 SELE ELANE
4 positive regulation of microglial cell activation GO:1903980 9.62 MMP8 CTSC
5 antifungal humoral response GO:0019732 9.46 LTF IL36RN
6 extracellular matrix disassembly GO:0022617 9.43 MMP8 MMP1 ELANE
7 leukocyte migration involved in inflammatory response GO:0002523 9.02 SELE ITGB2 ELANE

Molecular functions related to Periodontitis, Aggressive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.63 MMP8 MMP1 ELANE
2 interleukin-1 receptor binding GO:0005149 9.56 IL36RN IL1A
3 peptidase activity GO:0008233 9.56 MMP8 MMP1 LTF ELANE CTSC
4 serine-type endopeptidase activity GO:0004252 9.32 MMP8 MMP1 LTF ELANE CTSC
Sources

Sources for Periodontitis, Aggressive, 1

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