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MCID: PRD039
MIFTS: 50

Periodontitis, Aggressive, 1

Categories: Genetic diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 29 6
Prepubertal Periodontitis 75 37 55
Periodontitis 1, Juvenile 57 13
Periodontitis, Juvenile 57 73
Jpd 57 75
Ppp 57 75
Periodontitis, Aggressive, Type 1 40
Periodontitis, Juvenile; Jpd; Jp 57
Periodontitis, Prepubertal; Ppp 57
Periodontititis, Aggressive, 1 75
Periodontitis, Prepubertal 57
Juvenile Periodontitis 75
Periodontitis Juvenile 55
Ap1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
allelic to papillon-lefevre syndrome and haim-munk syndrome


HPO:

32
periodontitis, aggressive, 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Oral diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 170650
MedGen 42 C0031106
MeSH 44 D010520
KEGG 37 H02050
Sources

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)

MalaCards based summary : Periodontitis, Aggressive, 1, also known as prepubertal periodontitis, is related to aggressive periodontitis and periodontitis. An important gene associated with Periodontitis, Aggressive, 1 is CTSC (Cathepsin C), and among its related pathways/superpathways are Lysosome and Innate Immune System. The drugs Amoxicillin and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, b cells and monocytes, and related phenotypes are severe periodontitis and abnormality of the skin

UniProtKB/Swiss-Prot : 75 Periodontititis, aggressive, 1: 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.

Sources

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 67)
# Related Disease Score Top Affiliating Genes
1 aggressive periodontitis 31.2 CTSC FPR1 IL1A MMP8
2 periodontitis 28.0 CTSC FPR1 IL1A MMP1 MMP8
3 rheumatoid arthritis 27.4 HLA-B IL1A ITGB2 MMP1
4 pustulosis palmaris et plantaris 12.0
5 susceptibility to localized juvenile periodontitis 12.0
6 periodontosis 11.4
7 paget disease of bone 5, juvenile-onset 11.3
8 haim-munk syndrome 11.1
9 periodontitis, chronic 10.3 MMP1 MMP8
10 tendinopathy 10.3 MMP1 MMP8
11 preterm premature rupture of the membranes 10.2 MMP1 MMP8
12 gingival disease 10.2 MMP1 MMP8
13 panniculitis 10.2
14 pancreatitis 10.2
15 reactive arthritis 10.1 HLA-B MMP8
16 pulmonary emphysema 10.1 MMP1 MMP8
17 carotid artery disease 10.1 MMP1 MMP8
18 breast cancer 10.1
19 oral candidiasis 10.0 IL1A LTF
20 idiopathic inflammatory myopathy 10.0 HLA-B IL1A
21 dysentery 10.0 IL1A LTF
22 pars planitis 10.0 HLA-B IL1A
23 keratoconjunctivitis sicca 10.0 IL1A LTF
24 pulpitis 10.0 IL1A MMP1
25 aortic aneurysm, familial abdominal, 1 10.0 MMP1 MMP8
26 chorioamnionitis 10.0 IL1A MMP8
27 oral lichen planus 9.9 IL1A MMP1
28 arthritis 9.9
29 ischemia 9.9
30 adrenocortical carcinoma, hereditary 9.8
31 myeloma, multiple 9.8
32 tonsillitis 9.8
33 cardiac tamponade 9.8
34 adrenal cortical adenocarcinoma 9.8
35 peritonitis 9.8
36 influenza 9.8
37 gingival overgrowth 9.8 IL1A MMP1
38 bone inflammation disease 9.8 IL1A MMP1
39 amyotrophic lateral sclerosis 1 9.7
40 colorectal cancer 9.7
41 hepatocellular carcinoma 9.7
42 glioma susceptibility 1 9.7
43 kaposi sarcoma 9.7
44 aging 9.7
45 hepatitis c virus 9.7
46 glucocorticoid resistance, generalized 9.7
47 hepatitis 9.7
48 lymphoma 9.7
49 sarcoma 9.7
50 squamous cell carcinoma 9.7

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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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
severe, early-onset periodontitis
alveolar bone destruction
gingival recession

Skin Nails Hair Skin:
no palmoplantar keratosis

Head And Neck Teeth:
premature tooth loss


Clinical features from OMIM:

170650

Human phenotypes related to Periodontitis, Aggressive, 1:

32
# Description HPO Frequency HPO Source Accession
1 severe periodontitis 32 HP:0000166
2 abnormality of the skin 32 HP:0000951
3 premature loss of teeth 32 HP:0006480
4 gingival recession 32 HP:0030816

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.8 IL1A ITGB2 MMP8

MGI Mouse Phenotypes related to Periodontitis, Aggressive, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CTSC FPR1 IL1A ITGB2 LTF MMP1
2 immune system MP:0005387 9.5 CTSC FPR1 IL1A ITGB2 LTF MMP1
3 neoplasm MP:0002006 8.92 LTF MMP1 MMP8 IL1A
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 top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 26787-78-0 33613
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
5
Metronidazole Approved Phase 4,Phase 2,Phase 3,Not Applicable 443-48-1 4173
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
8
Polyestradiol phosphate Approved Phase 4 28014-46-2
9
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
10 Anesthetics Phase 4
11 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Not Applicable
12 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Not Applicable
13 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Not Applicable
14 Antiparasitic Agents Phase 4,Phase 2,Phase 3
15 Antiprotozoal Agents Phase 4,Phase 2,Phase 3
16 Contraceptive Agents Phase 4
17 Contraceptives, Oral Phase 4
18 Contraceptives, Oral, Combined Phase 4
19 Estradiol 17 beta-cypionate Phase 4
20 Estradiol 3-benzoate Phase 4
21 Fluoroquinolones Phase 4
22 Norgestimate, ethinyl estradiol drug combination Phase 4
23 Nucleic Acid Synthesis Inhibitors Phase 4
24 Topoisomerase Inhibitors Phase 4
25 Chlorhexidine gluconate Phase 4
26 Anesthetics, Local Phase 4
27
Clarithromycin Approved Phase 2, Phase 3,Phase 3,Not Applicable 81103-11-9 84029
28
Aspirin Approved, Vet_approved Phase 2, Phase 3,Phase 3 50-78-2 2244
29 Cytochrome P-450 CYP3A Inhibitors Phase 2, Phase 3,Phase 3,Not Applicable
30 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3,Phase 3,Not Applicable
31 Analgesics Phase 2, Phase 3,Phase 3
32 Analgesics, Non-Narcotic Phase 2, Phase 3,Phase 3
33 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3,Phase 3
35 Antipyretics Phase 2, Phase 3,Phase 3
36 Antirheumatic Agents Phase 2, Phase 3,Phase 3
37 Cyclooxygenase Inhibitors Phase 2, Phase 3,Phase 3
38 Fibrinolytic Agents Phase 2, Phase 3,Phase 3
39 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 3
40 Platelet Aggregation Inhibitors Phase 2, Phase 3,Phase 3
41 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3,Phase 3
42
Nitric Oxide Approved 10102-43-9 145068 160954
43
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
44
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
45 Bone Density Conservation Agents
46 Dihydroxycholecalciferols
47 Ergocalciferols
48 Micronutrients
49 Trace Elements
50 Vitamins

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Efficacy of Three Antibiotic Protocols for Aggressive Periodontitis Treatment Unknown status NCT02839421 Phase 4 Scaling and Root Planing combined with moxifloxacin
2 Adjunctive Systemic Administration of Moxifloxacin in the Treatment of Aggressive Periodontitis Completed NCT02125812 Phase 4
3 Evaluation of Efficacy of Full-mouth Disinfection in Generalized Aggressive Periodontitis Patients Completed NCT02466646 Phase 4 Klorhex® Gel, rinse and sprey
4 Treatment of Aggressive Periodontitis With Repeated Adjunctive Antimicrobial Photodynamic Therapy Completed NCT02049008 Phase 4
5 Host Modulatory Effects of β-glucan on Localized Aggressive Periodontitis Completed NCT02402296 Phase 4 β-1,3/1,6-D-glucan
6 Alternative Antibiotic Regime in the Treatment of GAgP Completed NCT02223702 Phase 4 Amoxicillin;Metronidazole;Moxifloxacin
7 Enamel Matrix Proteins in the Treatment of Intrabony Defects in Patients With Aggressive and Chronic Periodontitis Recruiting NCT03025204 Phase 4
8 Two Different Antibiotic Agents to Treat Generalized Aggressive Periodontitis Completed NCT02969928 Phase 2, Phase 3 Clarithromycin;Amoxicillin;Metronidazole
9 Periodontal Debridement Associated With Systemic Antibiotics and Single/Repeated PDT to Treat Aggressive Periodontitis Completed NCT03132714 Phase 2, Phase 3 Amoxicillin 500mg;Metronidazole 400mg;Clarithromycin 500mg
10 Omega-3 Fatty Acids Plus Low-dose Aspirin Daily Supplementation in Surgical Therapy to Treat Aggressive Periodontitis Recruiting NCT03093207 Phase 2, Phase 3 Aspirin
11 Omega-3 Plus Low-dose Aspirin Daily Supplementation in Non-surgical Therapy to Treat Aggressive Periodontitis Recruiting NCT03093246 Phase 2, Phase 3 Aspirin
12 The Affect of Orthodontic Treatment on the Periodontal Status of Patients With Aggressive Periodontitis Unknown status NCT01510808
13 Polymorphonuclear Cells' Sensitivity to Aggregatibacter Actinomycetemcomitans Bacteria in Patients With Aggressive Periodontitis Unknown status NCT02010307 Not Applicable
14 Chronic Presence of Epstein Barr Virus in Epithelial Cells From Gingiva is Associated With Periodontitis Unknown status NCT01246596 Not Applicable
15 Immunolocalization of 1,25,Dihydroxyvitamin D3 in Aggressive Periodontitis Patients Completed NCT02282800
16 Gene Expression Profiles in Generalized Aggressive Periodontitis: A Gene Network-based Microarray Analysis Completed NCT02327533
17 Effects of Smoking on Non-surgical Periodontal Therapy in Generalized Aggressive Periodontitis Completed NCT03512938 Not Applicable
18 Effects Of Adjunctive Photodynamic Therapy To Non-Surgical Periodontal Treatment In Patients With Generalized Aggressive Periodontitis Completed NCT03412331 Not Applicable
19 Gingival Crevicular Fluid Levels Of Monocyte Chemoattractant Protein-1 Completed NCT02927704
20 Frequency Of MCP-1 And CCR2 Gene Polymorphisms And Its Effect On Gene Expression In Patients With AgP Completed NCT02817568
21 Effects of Er,Cr:YSGG, Diode Lasers on GCF Cytokines Levels Completed NCT03034824 Not Applicable
22 Clarithromycin as Adjuvant to Periodontal Debridement Completed NCT02829983 Not Applicable Clarithromycin;Placebo
23 Smoking Influence on Apoptosis in Periodontitis Completed NCT02111005
24 Nonsurgical Periodontal Treatment Associated or Not With Systemic Antibiotics and Photodynamic Therapy Completed NCT03142776 Not Applicable systemic clarithromycin
25 Effect of Surgical Therapy on RANKL/OPG (Osteoprotegerin) System Completed NCT02190773
26 Estimation of Pentrexin-3 Levels in GCF and Saliva of Patients With Periodontal Disease Completed NCT03128502
27 Nitro-oxidative Stress in Periodontitis Completed NCT02127203
28 TNF-α/HIF-1α/VEGF Pathway in Periodontal Diseases Completed NCT03558906
29 Active Matrix Metalloproteinase-8 (aMMP-8) Chair-side Test in Different Periodontal Disease Completed NCT03527901
30 The Importance of Periostin in Periodontal Health and Disease Completed NCT01180920
31 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Completed NCT03078595
32 Perforated Collagen Membrane With Nanohydroxyapatite for Intrabony Defects Completed NCT03399279 Not Applicable
33 Immediate Implant Placement in Aggressive Periodontitis Recruiting NCT03218228 Not Applicable
34 Mechanisms and Treatment Response of Aggressive Periodontitis in Children Recruiting NCT01330719 Not Applicable
35 Subgingival Microbiome Following Mechanical Treatment and it's Effect on Peri-implant Sub-mucosa in Aggressive Periodontitis Patients Recruiting NCT03090282
36 EMD for Treatment of Proximal Class-II Furcation Involvements Recruiting NCT03320135 Not Applicable
37 B Cell Functions in Periodontitis Recruiting NCT02833285
38 Interaction Between Immune Cells and Bacteria Associated With Periodontitis Recruiting NCT03225950
39 Comparison Between Surgical Access and Repeated Applications of APDT Active, not recruiting NCT03140059 Not Applicable
40 Long-term Results After Systematic Periodontal Therapy Enrolling by invitation NCT03048045
41 Clinical and Radiographic Evaluation of Guided Tissue Regeneration With Radiation-sterilized Allogenic Bone Grafts or Xenogenic Grafts for the Treatment of Intrabony Defects in Aggressive Periodontitis Not yet recruiting NCT03340012 Not Applicable
42 Analysis of Osteoimmune Interactions Linking Inflammation and Bone Destruction in Aggressive Periodontitis Terminated NCT01993368 Not Applicable

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 29 CTSC
Sources

Anatomical Context for Periodontitis, Aggressive, 1

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MalaCards organs/tissues related to Periodontitis, Aggressive, 1:

41
Bone, B Cells, Monocytes, Testes, Skin
Sources

Publications for Periodontitis, Aggressive, 1

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Articles related to Periodontitis, Aggressive, 1:

(show all 11)
# Title Authors Year
1
Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. ( 17618138 )
2008
2
The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. ( 14974080 )
2004
3
Prepubertal periodontitis: a report of 2 cases. ( 12762617 )
2003
4
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. ( 10662808 )
2000
5
A case of prepubertal periodontitis and prevalence of gingivitis in a population attending a university clinic in Rosario, Argentina. ( 12905909 )
1999
6
Clinical, microbiological and host defense parameters associated with a case of localized prepubertal periodontitis. ( 7706540 )
1995
7
Leukocyte adhesion deficiency and prepubertal periodontitis. ( 9673168 )
1994
8
Treatment of prepubertal periodontitis. A case report and discussion. ( 1556251 )
1992
9
Paleopathology in Australopithecus africanus: a suggested case of a 3-million-year-old prepubertal periodontitis. ( 3137821 )
1988
10
Clinical management of prepubertal periodontitis in 2 siblings with Papillon-LefA"vre syndrome. ( 2951399 )
1987
11
Prepubertal periodontitis affecting the deciduous and permanent dentition in a patient with cyclic neutropenia. A case report and discussion. ( 6584586 )
1984
Sources

Variations for Periodontitis, Aggressive, 1

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

75
# Symbol AA change Variation ID SNP ID
1 CTSC p.Tyr347Cys VAR_009546 rs104894211
2 CTSC p.Tyr412Cys VAR_019047 rs28937571

ClinVar genetic disease variations for Periodontitis, Aggressive, 1:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSC NM_001814.5(CTSC): c.1235A> G (p.Tyr412Cys) single nucleotide variant Pathogenic rs28937571 GRCh37 Chromosome 11, 88027331: 88027331
2 CTSC NM_001814.5(CTSC): c.1235A> G (p.Tyr412Cys) single nucleotide variant Pathogenic rs28937571 GRCh38 Chromosome 11, 88294163: 88294163
3 CTSC NM_001814.5(CTSC): c.1040A> G (p.Tyr347Cys) single nucleotide variant Pathogenic rs104894211 GRCh37 Chromosome 11, 88027526: 88027526
4 CTSC NM_001814.5(CTSC): c.1040A> G (p.Tyr347Cys) single nucleotide variant Pathogenic rs104894211 GRCh38 Chromosome 11, 88294358: 88294358
5 CTSC NM_001814.5(CTSC): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs587777534 GRCh38 Chromosome 11, 88296207: 88296207
6 CTSC NM_001814.5(CTSC): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs587777534 GRCh37 Chromosome 11, 88029375: 88029375
7 CTSC NM_001814.5(CTSC): c.29C> T (p.Ala10Val) single nucleotide variant Uncertain significance rs765499436 GRCh38 Chromosome 11, 88337644: 88337644
8 CTSC NM_001814.5(CTSC): c.29C> T (p.Ala10Val) single nucleotide variant Uncertain significance rs765499436 GRCh37 Chromosome 11, 88070812: 88070812
9 CTSC NM_001814.5(CTSC): c.825C> T (p.Thr275=) single nucleotide variant Benign rs2230081 GRCh37 Chromosome 11, 88029365: 88029365
10 CTSC NM_001814.5(CTSC): c.825C> T (p.Thr275=) single nucleotide variant Benign rs2230081 GRCh38 Chromosome 11, 88296197: 88296197
11 CTSC NM_001814.5(CTSC): c.458C> T (p.Thr153Ile) single nucleotide variant Benign rs217086 GRCh38 Chromosome 11, 88312415: 88312415
12 CTSC NM_001814.5(CTSC): c.458C> T (p.Thr153Ile) single nucleotide variant Benign rs217086 GRCh37 Chromosome 11, 88045583: 88045583
13 CTSC NM_001814.5(CTSC): c.173-6C> T single nucleotide variant Likely benign rs201763299 GRCh37 Chromosome 11, 88068256: 88068256
14 CTSC NM_001814.5(CTSC): c.173-6C> T single nucleotide variant Likely benign rs201763299 GRCh38 Chromosome 11, 88335088: 88335088
15 CTSC NM_001814.5(CTSC): c.299A> G (p.Lys100Arg) single nucleotide variant Uncertain significance rs779944464 GRCh37 Chromosome 11, 88068124: 88068124
16 CTSC NM_001814.5(CTSC): c.299A> G (p.Lys100Arg) single nucleotide variant Uncertain significance rs779944464 GRCh38 Chromosome 11, 88334956: 88334956
17 CTSC NM_001814.5(CTSC): c.1289G> A (p.Gly430Asp) single nucleotide variant Uncertain significance rs199547244 GRCh38 Chromosome 11, 88294109: 88294109
18 CTSC NM_001814.5(CTSC): c.1289G> A (p.Gly430Asp) single nucleotide variant Uncertain significance rs199547244 GRCh37 Chromosome 11, 88027277: 88027277
19 CTSC NM_001814.5(CTSC): c.844A> G (p.Ile282Val) single nucleotide variant Uncertain significance rs142364727 GRCh38 Chromosome 11, 88296178: 88296178
20 CTSC NM_001814.5(CTSC): c.844A> G (p.Ile282Val) single nucleotide variant Uncertain significance rs142364727 GRCh37 Chromosome 11, 88029346: 88029346
21 CTSC NM_001814.5(CTSC): c.71G> A (p.Cys24Tyr) single nucleotide variant Uncertain significance rs748781412 GRCh37 Chromosome 11, 88070770: 88070770
22 CTSC NM_001814.5(CTSC): c.71G> A (p.Cys24Tyr) single nucleotide variant Uncertain significance rs748781412 GRCh38 Chromosome 11, 88337602: 88337602
Sources

Expression for Periodontitis, Aggressive, 1

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

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Pathways related to Periodontitis, Aggressive, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 12.82 CTSC FPR1 HLA-B IL1A ITGB2 LTF
2
Cytokine Signaling in Immune system 66
Show member pathways
 12.76 FPR1 HLA-B IL1A ITGB2 MMP1
3
Degradation of the extracellular matrix 66
Show member pathways
 12.29 ITGB2 MMP1 MMP8
4
Interleukin-4 and 13 signaling 66
11.39 IL1A ITGB2 MMP1
5
Pertussis 37
11.31 IL1A ITGB2
6
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.2 IL1A MMP1
7
Staphylococcus aureus infection 37
11.12 FPR1 ITGB2
8
Rheumatoid arthritis 37
11.09 IL1A ITGB2 MMP1
9
Interleukin-10 signaling 66
11.01 FPR1 IL1A
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 extracellular region GO:0005576 9.65 CTSC IL1A LTF MMP1 MMP8
2 specific granule lumen GO:0035580 9.16 LTF MMP8
3 ficolin-1-rich granule membrane GO:0101003 8.96 FPR1 ITGB2
4 tertiary granule lumen GO:1904724 8.62 LTF MMP8

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.62 CTSC LTF MMP1 MMP8
2 inflammatory response GO:0006954 9.58 FPR1 IL1A ITGB2
3 extracellular matrix disassembly GO:0022617 9.43 MMP1 MMP8
4 collagen catabolic process GO:0030574 9.37 MMP1 MMP8
5 leukocyte migration GO:0050900 9.33 FPR1 ITGB2 MMP1
6 endodermal cell differentiation GO:0035987 9.26 ITGB2 MMP8
7 cytokine-mediated signaling pathway GO:0019221 9.26 FPR1 IL1A ITGB2 MMP1
8 neutrophil degranulation GO:0043312 9.1 CTSC FPR1 HLA-B ITGB2 LTF MMP8

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.26 CTSC LTF MMP1 MMP8
2 serine-type endopeptidase activity GO:0004252 8.92 CTSC LTF MMP1 MMP8
Sources

Sources for Periodontitis, Aggressive, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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