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Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.
Features include: Breast carcinoma, Dysplastic gangliocytoma of the cerebellum, Hamartoma, and Trichilemmoma and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Macrocephaly |
Kidneys and urinary system |
KLLN encodes killin, p53 regulated DNA replication inhibitor (178 aa). DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis.
Cowden syndrome 4 is associated with mutations in the KLLN gene on chromosome 10.
KLLN is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 0.0.
Genetic testing for KLLN is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Cowden syndrome 4 has been reported in the published literature.
No clinical trials have been registered for Cowden syndrome 4.
43 publications have been identified in PubMed for Cowden syndrome 4. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 18 | 44% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:50 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Cowden syndrome 4
1
Renal neoplasm |
6 |
15% |
Laboratory research | 6 | 15% |
Disease patterns and progression | 5 | 12% |
Testing and diagnosis research | 4 | 10% |
Other research | 1 | 2% |
Clinical study results | 1 | 2% |
Perrin C (2026). [PMID: 41283671](https://pubmed.ncbi.nlm.nih.gov/41283671/). *Am J Dermatopathol*. [Case Report / Case Series]
Tibarewal P (2026). [PMID: 41215730](https://pubmed.ncbi.nlm.nih.gov/41215730/). *Dis Model Mech*. [Basic Science / Preclinical]
Grewal N (2026). [PMID: 41676052](https://pubmed.ncbi.nlm.nih.gov/41676052/). *Indian J Thorac Cardiovasc Surg*. [Case Report / Case Series]
Hoenig LJ (2026). [PMID: 41138957](https://pubmed.ncbi.nlm.nih.gov/41138957/). *Clin Dermatol*. [Diagnostic / Biomarker]
Godina E (2026). [PMID: 41986640](https://pubmed.ncbi.nlm.nih.gov/41986640/). *BJC Rep*. [Case Report / Case Series]
Wong SY (2026). [PMID: 41240053](https://pubmed.ncbi.nlm.nih.gov/41240053/). *J Invest Dermatol*. [Review / Meta-Analysis]
Oyewole SO (2026). [PMID: 41478787](https://pubmed.ncbi.nlm.nih.gov/41478787/). *Oral Surg Oral Med Oral Pathol Oral Radiol*. [Epidemiology / Natural History]
Shukla A (2026). [PMID: 41991228](https://pubmed.ncbi.nlm.nih.gov/41991228/). *BMJ Case Rep*. [Case Report / Case Series]
Plitt G (2026). [PMID: 41027746](https://pubmed.ncbi.nlm.nih.gov/41027746/). *Surgery*. [Basic Science / Preclinical]
Albrecht MEM (2026). [PMID: 41676040](https://pubmed.ncbi.nlm.nih.gov/41676040/). *Indian J Thorac Cardiovasc Surg*. [Case Report / Case Series]