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periodontitis, aggressive 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

periodontitis, aggressive 1

MONDO:0008226

Also known as:juvenile periodontitisperiodontitis 1, juvenileperiodontitis, aggressive, type 1

Overview

A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.

GeneticsAutosomal recessive · CTSC (chr 11)

OnsetINFANTILE

Clinical Presentation

Features include always present findings: Severe periodontitis. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Palmoplantar hyperkeratosis

Age of onset: infancy.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CTSC encodes cathepsin C (463 aa). Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Highest expression in Cells Cultured fibroblasts (104.9 TPM) and Lung (61.5 TPM).

Periodontitis, aggressive 1 is associated with mutations in the CTSC gene on chromosome 11.

The CTSC protein participates in LMAN family proteins bind glycosylated cargo pathway.

CTSC is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 7.5.

Diagnosis

Genetic testing for CTSC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for periodontitis, aggressive 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for periodontitis, aggressive 1.

103 publications have been identified in PubMed for periodontitis, aggressive 1. Kisho has analyzed 31 by research type. Research spans Review / Meta-Analysis (52%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Research summaries	16	52%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:170650

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

periodontitis, aggressive 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Artificial intelligence for detection of periodontitis on radiographic images: a systematic review and diagnostic test accuracy meta-analysis.

Multifunctional spatiotemporally programmed microneedle patches for the reconstruction of antibacterial and immunoregenerative homeostasis in periodontitis therapy.

periodontitis, aggressive 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Artificial intelligence for detection of periodontitis on radiographic images: a systematic review and diagnostic test accuracy meta-analysis.

Multifunctional spatiotemporally programmed microneedle patches for the reconstruction of antibacterial and immunoregenerative homeostasis in periodontitis therapy.