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Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.
Biomarker and diagnostic research for CTSC-related disorder has been reported in the published literature.
No clinical trials have been registered for CTSC-related disorder.
130 publications have been identified in PubMed for CTSC-related disorder. Research spans Review / Meta-Analysis (45%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (11%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 58 | 45% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
Common questions about CTSC-related disorder
30 |
23% |
Disease patterns and progression | 14 | 11% |
Patient case studies | 13 | 10% |
Testing and diagnosis research | 6 | 5% |
Clinical study results | 5 | 4% |
New treatment approaches | 3 | 2% |
Other research | 1 | 1% |
Haidurov A (2026). [PMID: 41972739](https://pubmed.ncbi.nlm.nih.gov/41972739/). *Cells*. [Review / Meta-Analysis]
Kosek S (2026). [PMID: 41962323](https://pubmed.ncbi.nlm.nih.gov/41962323/). *J Neuroimmunol*. [Diagnostic / Biomarker]
Huang Y (2026). [PMID: 41544799](https://pubmed.ncbi.nlm.nih.gov/41544799/). *Metabolism*. [Epidemiology / Natural History]
Vasilevsky NA (2026). [PMID: 41052288](https://pubmed.ncbi.nlm.nih.gov/41052288/). *Genetics*. [Diagnostic / Biomarker]
Amarapathy S (2026). [PMID: 41986011](https://pubmed.ncbi.nlm.nih.gov/41986011/). *Prog Mol Biol Transl Sci*. [Review / Meta-Analysis]
Lázár E (2026). [PMID: 41028908](https://pubmed.ncbi.nlm.nih.gov/41028908/). *Nat Rev Genet*. [Review / Meta-Analysis]
Du X (2026). [PMID: 42104048](https://pubmed.ncbi.nlm.nih.gov/42104048/). *Cell Mol Immunol*. [Basic Science / Preclinical]
Patel UA (2026). [PMID: 40899441](https://pubmed.ncbi.nlm.nih.gov/40899441/). *Mol Cancer Ther*. [Gene Therapy / Novel Therapeutics]
Serpieri V (2026). [PMID: 41720098](https://pubmed.ncbi.nlm.nih.gov/41720098/). *Am J Hum Genet*. [Basic Science / Preclinical]
Li X (2026). [PMID: 41835123](https://pubmed.ncbi.nlm.nih.gov/41835123/). *J Inflamm Res*. [Clinical Trial Publication]