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AP1
MCID: PRD039
MIFTS: 46

Periodontitis, Aggressive, 1 (AP1)

Categories: Bone diseases, Genetic diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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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 72 36 54
Periodontitis 1, Juvenile 57 13
Periodontitis, Juvenile 57 70
Jpd 57 72
Ppp 57 72
Periodontitis, Aggressive, Type 1 39
Periodontitis, Juvenile; Jpd; Jp 57
Periodontitis, Prepubertal; Ppp 57
Periodontititis, Aggressive, 1 72
Periodontitis, Prepubertal 57
Juvenile Periodontitis 72
Periodontitis Juvenile 54
Ap1 72

Characteristics:

OMIM®:

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

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


HPO:

31
periodontitis, aggressive, 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

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


External Ids:

OMIM® 57 170650
KEGG 36 H02050
MeSH 44 D010520
UMLS 70 C0031106
Sources

Summaries for Periodontitis, Aggressive, 1

About this section
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 05-Apr-2021)

MalaCards based summary : Periodontitis, Aggressive, 1, also known as prepubertal periodontitis, is related to aggressive periodontitis and periodontitis, chronic. An important gene associated with Periodontitis, Aggressive, 1 is CTSC (Cathepsin C), and among its related pathways/superpathways are Lysosome and Innate Immune System. Affiliated tissues include bone, neutrophil and heart, and related phenotypes are abnormality of the skin and premature loss of teeth

KEGG : 36 Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and recessive forms transmission have been reported for PPP. Mutations in cathepsin C gene cause this disease.

UniProtKB/Swiss-Prot : 72 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

About this section

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 252)
# Related Disease Score Top Affiliating Genes
1 aggressive periodontitis 30.4 MMP8 MMP1 LTF IL1A FPR1 CTSC
2 periodontitis, chronic 30.3 MMP8 MMP1
3 gingivitis 29.9 MMP8 MMP1 LTF IL1A
4 venous insufficiency 29.5 MMP1 IL1A
5 periodontitis 29.2 MMP8 MMP1 IL1A FPR1 CTSC
6 bacterial infectious disease 28.8 LTF ITGB2 IL1A FPR1
7 arthritis 28.6 MMP8 MMP1 ITGB2 IL1A HLA-B
8 skin disease 28.5 MMP1 ITGB2 IL1A HLA-B
9 inflammatory bowel disease 28.1 MMP1 LTF ITGB2 IL1A HLA-B
10 pustulosis palmaris et plantaris 11.5
11 paget disease of bone 5, juvenile-onset 11.3
12 haim-munk syndrome 11.3
13 periodontosis 11.2
14 susceptibility to localized juvenile periodontitis 11.1
15 papillon-lefevre syndrome 11.1
16 transaldolase deficiency 11.1
17 panniculitis 10.3
18 pancreatitis 10.2
19 leukocyte adhesion deficiency, type i 10.1
20 plague 10.1 FPR1 CTSC
21 sarcoma 10.1
22 squamous cell carcinoma 10.1
23 spindle cell sarcoma 10.1
24 melanoma, uveal 10.1
25 tendinopathy 10.1 MMP8 MMP1
26 root resorption 10.1
27 juvenile rheumatoid arthritis 10.1
28 otitis media 10.1
29 neutropenia 10.1
30 keratosis 10.1
31 kaposi sarcoma 10.1
32 skin carcinoma 10.1
33 chronic ulcer of skin 10.0 MMP8 MMP1
34 pancreatic agenesis 1 10.0
35 rapidly involuting congenital hemangioma 10.0
36 pancreas disease 10.0
37 severe combined immunodeficiency 10.0
38 periapical periodontitis 10.0 MMP8 IL1A
39 breast cancer 10.0
40 hepatocellular carcinoma 10.0
41 retinoblastoma 10.0
42 suppressor of tumorigenicity 3 10.0
43 osteogenic sarcoma 10.0
44 oral squamous cell carcinoma 10.0
45 adenocarcinoma 10.0
46 lymphoma aids related 10.0
47 teeth, supernumerary 10.0
48 infective endocarditis 10.0
49 bone resorption disease 10.0
50 actinomycosis 10.0

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



Diseases related to Periodontitis, Aggressive, 1
Sources

Symptoms & Phenotypes for Periodontitis, Aggressive, 1

About this section

Human phenotypes related to Periodontitis, Aggressive, 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 31 HP:0000951
2 premature loss of teeth 31 HP:0006480
3 severe periodontitis 31 HP:0000166
4 gingival recession 31 HP:0030816

Symptoms via clinical synopsis from OMIM®:

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

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 IL1A LTF MMP1 MMP8
Sources

Drugs & Therapeutics for Periodontitis, Aggressive, 1

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study on Oral Health Status Chairside Mouthrinse Test in Finnish Adolescents and Cost Effectiveness of the Test Active, not recruiting NCT04139863

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

About this section

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

40
Bone, Neutrophil, Heart, Tongue
Sources

Publications for Periodontitis, Aggressive, 1

About this section

Articles related to Periodontitis, Aggressive, 1:

(show top 50) (show all 135)
# Title Authors PMID Year
1
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 61 54 57 6
14974080 2004
2
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. 57 6 61
10662808 2000
3
Possible autosomal-dominant inheritance of prepubertal periodontitis in an extended kindred. 61 57
9205917 1997
4
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 6
29410039 2018
5
[Papillon-Lefèvre syndrome: A new case]. 6
28242153 2017
6
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. 6
23311634 2013
7
A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis. 57
19897590 2010
8
Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. 57
19214202 2009
9
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. 6
12112662 2002
10
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. 6
11886537 2001
11
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. 6
11180012 2001
12
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 6
10581027 1999
13
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. 6
10593994 1999
14
Reevaluation of the chromosome 4q candidate region for early onset periodontitis. 57
8100208 1993
15
Re-interpretation of the evidence for X-linked dominant inheritance of juvenile periodontitis. 57
1593411 1992
16
No female preponderance in juvenile periodontitis after correction for ascertainment bias. 57
1765937 1991
17
Quantification of glial fibrillary acidic protein: comparison of slot-immunobinding assays with a novel sandwich ELISA. 6
1886537 1991
18
Defective polymorphonuclear leukocyte formyl peptide receptor(s) in juvenile periodontitis. 57
1999504 1991
19
Association between HLA antigens and periodontal disease. 57
3163857 1988
20
Genetic analysis of juvenile periodontitis in families ascertained through an affected proband. 57
3578282 1987
21
Early onset periodontitis: a comparison and evaluation of two proposed modes of inheritance. 57
3569875 1987
22
An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. 57
3793857 1986
23
Autosomal recessive inheritance of juvenile periodontitis: test of a hypothesis. 57
6713708 1984
24
Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentition. 57
6579461 1983
25
Reduced chemotactic peptide binding in juvenile periodontitis: a model for neutrophil function. 57
6268085 1981
26
Neutrophil chemotaxis dysfunction in human periodontitis. 57
7358424 1980
27
Genetic and environmental determinants of periodontal disease. 57
495651 1979
28
Periodontosis: a phenotypic and genetic analysis. 57
1065840 1976
29
Periodontosis in sibs. 57
1054138 1975
30
A proposed classification for heritable human dentine defects with a description of a new entity. 57
4516067 1973
31
Familial patterns of advanced alveolar bone loss in adolescence (periodontosis). 57
5228312 1967
32
Dentinogenesis imperfecta in a racial isolate with multiple hereditary defects. 57
13322427 1956
33
Identification of genetic risk factors for periodontitis and possible mechanisms of action. 61 54
16128836 2005
34
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome. 61
33498938 2021
35
Characterization of neutrophil function in Papillon-Lefèvre syndrome. 61
26957212 2016
36
Generalized aggressive periodontitis in prepubertal age: description and comparison of two cases. 61
25573711 2014
37
Oral manifestion of Langerhans cell histiocytosis mimicking inflammation. 61
24992857 2014
38
Variant Carvajal syndrome with additional dental anomalies. 61
22404234 2012
39
Haim-Munk syndrome. 61
21760678 2010
40
Association between lactoferrin gene polymorphisms and aggressive periodontitis among Taiwanese patients. 54
18973542 2009
41
Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings. 61
18222334 2008
42
Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. 61
17618138 2008
43
Periodontitis as a manifestation of chronic benign neutropenia. 61
17076620 2006
44
Relationship of Actinobacillus actinomycetemcomitans serotype b to aggressive periodontitis: frequency in pure cultured isolates. 61
15152825 2004
45
One of two human lactoferrin variants exhibits increased antibacterial and transcriptional activation activities and is associated with localized juvenile periodontitis. 54
14573629 2003
46
Prepubertal periodontitis: a report of 2 cases. 61
12762617 2003
47
Eikenella corrodens in subgingival plaque: relationship to age and periodontal condition. 61
12211498 2002
48
Periodontal diseases in the child and adolescent. 61
12060422 2002
49
Defective Gi protein coupling in two formyl peptide receptor mutants associated with localized juvenile periodontitis. 54
11559706 2001
50
Contrasting evolution of the human leukocyte N-formylpeptide receptor subtypes FPR and FPRL1R. 54
11607790 2001
Sources

Variations for Periodontitis, Aggressive, 1

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ClinVar genetic disease variations for Periodontitis, Aggressive, 1:

6 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSC NM_001814.6(CTSC):c.1235A>G (p.Tyr412Cys) SNV Pathogenic 7300 rs28937571 GRCh37: 11:88027331-88027331
GRCh38: 11:88294163-88294163
2 CTSC NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) SNV Pathogenic 7301 rs104894211 GRCh37: 11:88027526-88027526
GRCh38: 11:88294358-88294358
3 CTSC NM_001814.6(CTSC):c.815G>A (p.Arg272His) SNV Pathogenic 139656 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
4 CTSC NM_001814.6(CTSC):c.628C>T (p.Arg210Ter) SNV Pathogenic 7289 GRCh37: 11:88042344-88042344
GRCh38: 11:88309176-88309176
5 CTSC NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) SNV Pathogenic 839668 GRCh37: 11:88068220-88068220
GRCh38: 11:88335052-88335052
6 CTSC NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV Pathogenic 139655 GRCh37: 11:88070745-88070745
GRCh38: 11:88337577-88337577
7 CTSC NM_001814.6(CTSC):c.1096del (p.His366fs) Deletion Pathogenic 935708 GRCh37: 11:88027470-88027470
GRCh38: 11:88294302-88294302
8 CTSC NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV Pathogenic 7297 GRCh37: 11:88027665-88027665
GRCh38: 11:88294497-88294497
9 CTSC NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) SNV Likely pathogenic 548504 rs587777534 GRCh37: 11:88029375-88029375
GRCh38: 11:88296207-88296207
10 CTSC NM_001814.6(CTSC):c.855dup (p.Gln286fs) Duplication Likely pathogenic 575092 GRCh37: 11:88029334-88029335
GRCh38: 11:88296166-88296167
11 CTSC NM_001814.6(CTSC):c.790A>C (p.Met264Leu) SNV Uncertain significance 575218 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
12 CTSC NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys) SNV Uncertain significance 640536 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
13 CTSC NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys) SNV Uncertain significance 643044 GRCh37: 11:88027263-88027263
GRCh38: 11:88294095-88294095
14 CTSC NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) SNV Uncertain significance 646118 GRCh37: 11:88045646-88045646
GRCh38: 11:88312478-88312478
15 CTSC NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) SNV Uncertain significance 647363 GRCh37: 11:88027365-88027365
GRCh38: 11:88294197-88294197
16 CTSC NM_001814.6(CTSC):c.790A>G (p.Met264Val) SNV Uncertain significance 647418 GRCh37: 11:88029400-88029400
GRCh38: 11:88296232-88296232
17 CTSC NM_001814.6(CTSC):c.259A>G (p.Ile87Val) SNV Uncertain significance 548698 rs45447392 GRCh37: 11:88068164-88068164
GRCh38: 11:88334996-88334996
18 CTSC NM_001814.6(CTSC):c.364A>G (p.Met122Val) SNV Uncertain significance 648150 GRCh37: 11:88045677-88045677
GRCh38: 11:88312509-88312509
19 CTSC NM_001814.6(CTSC):c.1392G>A (p.Ter464=) SNV Uncertain significance 650803 GRCh37: 11:88027174-88027174
GRCh38: 11:88294006-88294006
20 CTSC NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn) SNV Uncertain significance 651983 GRCh37: 11:88027656-88027656
GRCh38: 11:88294488-88294488
21 CTSC NM_001814.6(CTSC):c.757+5A>G SNV Uncertain significance 652502 GRCh37: 11:88033693-88033693
GRCh38: 11:88300525-88300525
22 CTSC NM_001814.6(CTSC):c.953A>G (p.Glu318Gly) SNV Uncertain significance 652504 GRCh37: 11:88027613-88027613
GRCh38: 11:88294445-88294445
23 CTSC NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr) SNV Uncertain significance 654717 GRCh37: 11:88027221-88027221
GRCh38: 11:88294053-88294053
24 CTSC NM_001814.6(CTSC):c.37C>A (p.Leu13Met) SNV Uncertain significance 659313 GRCh37: 11:88070804-88070804
GRCh38: 11:88337636-88337636
25 CTSC NM_001814.6(CTSC):c.923G>A (p.Gly308Glu) SNV Uncertain significance 665835 GRCh37: 11:88027643-88027643
GRCh38: 11:88294475-88294475
26 CTSC NM_001814.6(CTSC):c.907C>T (p.Pro303Ser) SNV Uncertain significance 853063 GRCh37: 11:88027659-88027659
GRCh38: 11:88294491-88294491
27 CTSC NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr) SNV Uncertain significance 534587 GRCh37: 11:88070770-88070770
GRCh38: 11:88337602-88337602
28 CTSC NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp) SNV Uncertain significance 534588 GRCh37: 11:88027277-88027277
GRCh38: 11:88294109-88294109
29 CTSC NM_001814.6(CTSC):c.844A>G (p.Ile282Val) SNV Uncertain significance 534589 GRCh37: 11:88029346-88029346
GRCh38: 11:88296178-88296178
30 CTSC NM_001814.6(CTSC):c.295T>C (p.Tyr99His) SNV Uncertain significance 568193 GRCh37: 11:88068128-88068128
GRCh38: 11:88334960-88334960
31 CTSC NM_001814.6(CTSC):c.550T>C (p.Ser184Pro) SNV Uncertain significance 1047420 GRCh37: 11:88042422-88042422
GRCh38: 11:88309254-88309254
32 CTSC NC_000011.10:g.(?_88293986)_(88337727_?)dup Duplication Uncertain significance 830637 GRCh37: 11:88027154-88070895
GRCh38:
33 CTSC NM_001814.6(CTSC):c.1169A>G (p.His390Arg) SNV Uncertain significance 834209 GRCh37: 11:88027397-88027397
GRCh38: 11:88294229-88294229
34 CTSC NM_001814.6(CTSC):c.919G>A (p.Ala307Thr) SNV Uncertain significance 943207 GRCh37: 11:88027647-88027647
GRCh38: 11:88294479-88294479
35 CTSC NM_001814.6(CTSC):c.796A>G (p.Met266Val) SNV Uncertain significance 944290 GRCh37: 11:88029394-88029394
GRCh38: 11:88296226-88296226
36 CTSC NM_001814.6(CTSC):c.299A>G (p.Lys100Arg) SNV Uncertain significance 466227 GRCh37: 11:88068124-88068124
GRCh38: 11:88334956-88334956
37 CTSC NM_001814.6(CTSC):c.29C>T (p.Ala10Val) SNV Uncertain significance 306432 rs765499436 GRCh37: 11:88070812-88070812
GRCh38: 11:88337644-88337644
38 CTSC NM_001814.6(CTSC):c.308C>T (p.Ala103Val) SNV Uncertain significance 650523 GRCh37: 11:88068115-88068115
GRCh38: 11:88334947-88334947
39 CTSC NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser) SNV Uncertain significance 836452 GRCh37: 11:88027272-88027272
GRCh38: 11:88294104-88294104
40 CTSC NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr) SNV Uncertain significance 851663 GRCh37: 11:88027673-88027673
GRCh38: 11:88294505-88294505
41 CTSC NM_001814.6(CTSC):c.1346C>T (p.Ala449Val) SNV Uncertain significance 851940 GRCh37: 11:88027220-88027220
GRCh38: 11:88294052-88294052
42 CTSC NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) SNV Uncertain significance 306418 rs201519830 GRCh37: 11:88027372-88027372
GRCh38: 11:88294204-88294204
43 CTSC NM_001814.6(CTSC):c.358G>A (p.Glu120Lys) SNV Uncertain significance 856793 GRCh37: 11:88045683-88045683
GRCh38: 11:88312515-88312515
44 CTSC NM_001814.6(CTSC):c.1084C>G (p.Leu362Val) SNV Uncertain significance 1009025 GRCh37: 11:88027482-88027482
GRCh38: 11:88294314-88294314
45 CTSC NM_001814.6(CTSC):c.574G>C (p.Glu192Gln) SNV Uncertain significance 1012119 GRCh37: 11:88042398-88042398
GRCh38: 11:88309230-88309230
46 CTSC NM_001814.6(CTSC):c.338A>G (p.Lys113Arg) SNV Uncertain significance 849347 GRCh37: 11:88045703-88045703
GRCh38: 11:88312535-88312535
47 CTSC NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe) SNV Uncertain significance 953826 GRCh37: 11:88027407-88027407
GRCh38: 11:88294239-88294239
48 CTSC NM_001814.6(CTSC):c.318+4_318+7del Deletion Uncertain significance 1019816 GRCh37: 11:88068098-88068101
GRCh38: 11:88334930-88334933
49 CTSC NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser) SNV Uncertain significance 1021975 GRCh37: 11:88027445-88027445
GRCh38: 11:88294277-88294277
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:

72
# 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 KEGG:

36
# 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 65
Show member pathways
 12.82 MMP8 MMP1 LTF ITGB2 IL1A HLA-B
2
Cytokine Signaling in Immune system 65
Show member pathways
 12.76 MMP1 ITGB2 IL1A HLA-B FPR1
3
Interleukin-4 and 13 signaling 65
11.39 MMP1 ITGB2 IL1A
4
Pertussis 36
11.28 ITGB2 IL1A
5
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.17 MMP1 IL1A
6
Rheumatoid arthritis 36
11.1 MMP1 ITGB2 IL1A
7
Interleukin-10 signaling 65
11.01 IL1A FPR1
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 specific granule lumen GO:0035580 9.16 MMP8 LTF
2 ficolin-1-rich granule membrane GO:0101003 8.96 ITGB2 FPR1
3 tertiary granule lumen GO:1904724 8.62 MMP8 LTF

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.65 ITGB2 IL1A FPR1
2 proteolysis GO:0006508 9.56 MMP8 MMP1 LTF CTSC
3 extracellular matrix organization GO:0030198 9.54 MMP8 MMP1 ITGB2
4 extracellular matrix disassembly GO:0022617 9.46 MMP8 MMP1
5 positive regulation of nitric oxide biosynthetic process GO:0045429 9.43 MMP8 ITGB2
6 collagen catabolic process GO:0030574 9.4 MMP8 MMP1
7 endodermal cell differentiation GO:0035987 9.32 MMP8 ITGB2
8 cytokine-mediated signaling pathway GO:0019221 9.26 MMP1 ITGB2 IL1A FPR1
9 positive regulation of microglial cell activation GO:1903980 9.16 MMP8 CTSC
10 neutrophil degranulation GO:0043312 9.1 MMP8 LTF ITGB2 HLA-B FPR1 CTSC

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 MMP8 MMP1 LTF CTSC
2 serine-type endopeptidase activity GO:0004252 8.92 MMP8 MMP1 LTF CTSC
Sources

Sources for Periodontitis, Aggressive, 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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