CTSC
HGNC:2528 · SaudiVarKB evidence summary derived from retained literature mentions.
6Gene mentions
6Publications
3Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in CTSC publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| primary ciliary dyskinesia | — | 1 | 1 |
Linked variants
Variants normalized to CTSC| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.899G>A | c.899G>A | 2 | 2 |
| p.Gly300Asp | p.Gly300Asp | 1 | 1 |
| p.G300D | p.G300D | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | — | 1 |
| Not specified | — | 75 | 1 |
| Saudi Arabia | — | 256 | 1 |
Supporting publications
6 records- 2026A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryPubMed ↗
- 2025Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.Reports (MDPI)PubMed ↗
- 2019Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study.Case reports in oncologyPubMed ↗
- 2016Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.The FEBS journalPubMed ↗
- 2016Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.Saudi journal of biological sciencesPubMed ↗
- 2015Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.PloS onePubMed ↗