AP1
MCID: PRD039
MIFTS: 32

Periodontitis, Aggressive, 1 (AP1)

Categories: Bone diseases, Genetic diseases, Oral diseases

Aliases & Classifications for Periodontitis, Aggressive, 1

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
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 heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 170650
MedGen 42 C0031106
MeSH 44 D010520
KEGG 37 H02050
UMLS 73 C0031106

Summaries for Periodontitis, Aggressive, 1

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 susceptibility to localized juvenile periodontitis and pustulosis palmaris et plantaris. An important gene associated with Periodontitis, Aggressive, 1 is CTSC (Cathepsin C), and among its related pathways/superpathways is Lysosome. Affiliated tissues include bone, skin and neutrophil, and related phenotypes are abnormality of the skin and severe periodontitis

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.

Related Diseases for Periodontitis, Aggressive, 1

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 65)
# Related Disease Score Top Affiliating Genes
1 susceptibility to localized juvenile periodontitis 12.2
2 pustulosis palmaris et plantaris 12.2
3 aggressive periodontitis 11.7
4 periodontosis 11.5
5 paget disease of bone 5, juvenile-onset 11.4
6 haim-munk syndrome 11.3
7 panniculitis 10.3
8 pancreatitis 10.3
9 breast cancer 10.2
10 periodontitis 10.2
11 orchitis 10.0
12 ischemia 10.0
13 leukocyte adhesion deficiency, type i 10.0
14 neutropenia 10.0
15 periodontal disease 10.0
16 small cell cancer of the lung 9.9
17 adrenocortical carcinoma, hereditary 9.9
18 lung cancer 9.9
19 myeloma, multiple 9.9
20 leukemia 9.9
21 alternating hemiplegia of childhood 9.9
22 legionnaires' disease 9.9
23 cardiac tamponade 9.9
24 hyperostosis 9.9
25 thrombocytosis 9.9
26 rhabdomyosarcoma 9.9
27 adrenal cortical adenocarcinoma 9.9
28 influenza 9.9
29 viral infectious disease 9.9
30 6-phosphogluconate dehydrogenase deficiency 9.9
31 teeth, supernumerary 9.9
32 rheumatoid arthritis 9.9
33 arthritis 9.9
34 amyotrophic lateral sclerosis 1 9.9
35 colorectal cancer 9.9
36 hepatocellular carcinoma 9.9
37 glioma susceptibility 1 9.9
38 kaposi sarcoma 9.9
39 hepatitis c virus 9.9
40 glucocorticoid resistance, generalized 9.9
41 hepatitis 9.9
42 lymphoma 9.9
43 sarcoma 9.9
44 ichthyosis 9.9
45 squamous cell carcinoma 9.9
46 hepatitis c 9.9
47 lateral sclerosis 9.9
48 adenocarcinoma 9.9
49 glioblastoma multiforme 9.9
50 embryonal carcinoma 9.9

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



Diseases related to Periodontitis, Aggressive, 1

Symptoms & Phenotypes for Periodontitis, Aggressive, 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Periodontitis, Aggressive, 1:

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

Drugs & Therapeutics for Periodontitis, Aggressive, 1

Search Clinical Trials , NIH Clinical Center for Periodontitis, Aggressive, 1

Genetic Tests for Periodontitis, Aggressive, 1

Genetic tests related to Periodontitis, Aggressive, 1:

# Genetic test Affiliating Genes
1 Periodontitis, Aggressive, 1 29 CTSC

Anatomical Context for Periodontitis, Aggressive, 1

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

41
Bone, Skin, Neutrophil, Lung

Publications for Periodontitis, Aggressive, 1

Articles related to Periodontitis, Aggressive, 1:

(show all 41)
# 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
Prepubertal periodontitis associated with chronic granulomatous disease. ( 11350528 )
2001
5
Some local and systemic immunological features of prepubertal periodontitis. ( 11168735 )
2001
6
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. ( 10662808 )
2000
7
A case of prepubertal periodontitis and prevalence of gingivitis in a population attending a university clinic in Rosario, Argentina. ( 12905909 )
1999
8
Subgingival microflora and treatment in prepubertal periodontitis associated with chronic idiopathic neutropenia. ( 9763332 )
1998
9
Root surface characteristics of primary teeth from children with prepubertal periodontitis. ( 9579620 )
1998
10
Microbiological findings in prepubertal periodontitis. A case report. ( 9802719 )
1998
11
Alveolar bone loss in rats infected with a strain of Prevotella intermedia and Fusobacterium nucleatum isolated from a child with prepubertal periodontitis. ( 9029446 )
1997
12
Possible autosomal-dominant inheritance of prepubertal periodontitis in an extended kindred. ( 9205917 )
1997
13
Clinical and microbial considerations for the treatment of an extended kindred with seven cases of prepubertal periodontitis: a 2-year follow-up. ( 9348604 )
1997
14
Loss of deciduous teeth and germs of permanent incisors in a 4-year-old child. An atypic prepubertal periodontitis? A clinical, microbiological, immunological and ultrastructural study. ( 9402506 )
1997
15
Generalized prepubertal periodontitis. A report of 4 cases with the immunological findings. ( 8997655 )
1996
16
Clinical, microbiological and host defense parameters associated with a case of localized prepubertal periodontitis. ( 7706540 )
1995
17
Localized prepubertal periodontitis--nonsurgical treatment of an adolescent patient: a case report. ( 9002901 )
1995
18
Leukocyte adhesion deficiency and prepubertal periodontitis. ( 9673168 )
1994
19
Localized prepubertal periodontitis in a 5-year-old child: investigations and clinical observations over a 3-year period. ( 7748849 )
1994
20
Subgingival bacteria in a case of prepubertal periodontitis, before and one year after extractions of the affected primary teeth. ( 7865423 )
1994
21
Prepubertal periodontitis: a genetic analysis. ( 9588117 )
1993
22
Neutrophil dysfunction in prepubertal periodontitis associated with Papillon-Lefèvre syndrome. ( 1301494 )
1992
23
Treatment of prepubertal periodontitis. A case report and discussion. ( 1556251 )
1992
24
Prepubertal periodontitis. ( 1634634 )
1992
25
Histological differences between teeth with adult periodontitis and prepubertal periodontitis. ( 1690282 )
1990
26
Morphologic and histochemical characteristics of the dental cuticle in teeth affected by prepubertal periodontitis. ( 1690283 )
1990
27
Prepubertal periodontitis: a review of diagnostic criteria, pathogenesis, and differential diagnosis. ( 2137170 )
1990
28
Localized prepubertal periodontitis: literature review and report of case. ( 2656787 )
1989
29
Paleopathology in Australopithecus africanus: a suggested case of a 3-million-year-old prepubertal periodontitis. ( 3137821 )
1988
30
Prepubertal periodontitis--a case report. ( 3271827 )
1988
31
Clinical management of prepubertal periodontitis in 2 siblings with Papillon-LefA"vre syndrome. ( 2951399 )
1987
32
Molecular basis for the functional abnormality in neutrophils from patients with generalized prepubertal periodontitis. ( 3037059 )
1987
33
Prepubertal periodontitis. A case report with an analysis of lymphocyte populations. ( 3493267 )
1987
34
Prevalence and microbiology of localized prepubertal periodontitis. ( 10870470 )
1987
35
Microbiology of subgingival plaque from children with localized prepubertal periodontitis. ( 10870471 )
1987
36
Immunohistological study with peroxidase-antiperoxidase staining in a case of generalized prepubertal periodontitis. ( 2420957 )
1986
37
Prepubertal periodontitis: a recently defined clinical entity. ( 3466145 )
1986
38
Prepubertal periodontitis: report of a generalized case involving the primary dentition. ( 3856003 )
1985
39
Clinical studies of one family manifesting rapidly progressive, juvenile and prepubertal periodontitis. ( 3856656 )
1985
40
Prepubertal periodontitis affecting the deciduous and permanent dentition in a patient with cyclic neutropenia. A case report and discussion. ( 6584586 )
1984
41
Prepubertal periodontitis. I. Definition of a clinical disease entity. ( 6575170 )
1983

Variations for Periodontitis, Aggressive, 1

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 30)
# 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 GRCh37 Chromosome 11, 88027277: 88027277
18 CTSC NM_001814.5(CTSC): c.1289G> A (p.Gly430Asp) single nucleotide variant Uncertain significance rs199547244 GRCh38 Chromosome 11, 88294109: 88294109
19 CTSC NM_001814.5(CTSC): c.844A> G (p.Ile282Val) single nucleotide variant Uncertain significance rs142364727 GRCh37 Chromosome 11, 88029346: 88029346
20 CTSC NM_001814.5(CTSC): c.844A> G (p.Ile282Val) single nucleotide variant Uncertain significance rs142364727 GRCh38 Chromosome 11, 88296178: 88296178
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
23 CTSC NM_001814.5(CTSC): c.815G> C (p.Arg272Pro) single nucleotide variant Likely pathogenic rs587777534 GRCh37 Chromosome 11, 88029375: 88029375
24 CTSC NM_001814.5(CTSC): c.815G> C (p.Arg272Pro) single nucleotide variant Likely pathogenic rs587777534 GRCh38 Chromosome 11, 88296207: 88296207
25 CTSC NM_001814.5(CTSC): c.295T> C (p.Tyr99His) single nucleotide variant Uncertain significance rs997358516 GRCh38 Chromosome 11, 88334960: 88334960
26 CTSC NM_001814.5(CTSC): c.295T> C (p.Tyr99His) single nucleotide variant Uncertain significance rs997358516 GRCh37 Chromosome 11, 88068128: 88068128
27 CTSC NM_001814.5(CTSC): c.790A> C (p.Met264Leu) single nucleotide variant Uncertain significance rs779749265 GRCh38 Chromosome 11, 88296232: 88296232
28 CTSC NM_001814.5(CTSC): c.790A> C (p.Met264Leu) single nucleotide variant Uncertain significance rs779749265 GRCh37 Chromosome 11, 88029400: 88029400
29 CTSC NM_001814.5(CTSC): c.855dup (p.Gln286Serfs) duplication Likely pathogenic GRCh38 Chromosome 11, 88296167: 88296167
30 CTSC NM_001814.5(CTSC): c.855dup (p.Gln286Serfs) duplication Likely pathogenic GRCh37 Chromosome 11, 88029335: 88029335

Expression for Periodontitis, Aggressive, 1

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

Pathways for Periodontitis, Aggressive, 1

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

37
# Name Kegg Source Accession
1 Lysosome hsa04142

GO Terms for Periodontitis, Aggressive, 1

Sources for Periodontitis, Aggressive, 1

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
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