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Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.
Features include very common findings: Papillary thyroid carcinoma. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 2 | Papillary thyroid carcinoma, Hashimoto thyroiditis |
Digestive system |
SEC23B function has not been fully characterized.
Cowden syndrome 7 is associated with mutations in the SEC23B gene on chromosome 20.
Genetic testing for SEC23B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Cowden syndrome 7 has been reported in the published literature.
Phenotype severity distribution: 1 very common feature.
No clinical trials have been registered for Cowden syndrome 7.
32 publications have been identified in PubMed for Cowden syndrome 7. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (29%), and Diagnostic / Biomarker (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 29% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Cowden syndrome 7
1
Intestinal polyposis |
Head and neck | 1 | Macrocephaly |
9 |
29% |
Testing and diagnosis research | 3 | 10% |
Research summaries | 3 | 10% |
Clinical study results | 3 | 10% |
Laboratory research | 3 | 10% |
New treatment approaches | 1 | 3% |
Chapman EK (2026). [PMID: 41148183](https://pubmed.ncbi.nlm.nih.gov/41148183/). *J Neurosurg Sci*. [Case Report / Case Series]
Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]
Hoenig LJ (2026). [PMID: 41138957](https://pubmed.ncbi.nlm.nih.gov/41138957/). *Clin Dermatol*. [Epidemiology / Natural History]
Besterman AD (2025). [PMID: 40894148](https://pubmed.ncbi.nlm.nih.gov/40894148/). *medRxiv*. [Basic Science / Preclinical]
Maeda M (2025). [PMID: 40047103](https://pubmed.ncbi.nlm.nih.gov/40047103/). *Traffic*. [Review / Meta-Analysis]
Porto Vasconcelos A (2025). [PMID: 39361243](https://pubmed.ncbi.nlm.nih.gov/39361243/). *Ann Hum Genet*. [Case Report / Case Series]
Losurdo G (2025). [PMID: 40580534](https://pubmed.ncbi.nlm.nih.gov/40580534/). *J Gastrointestin Liver Dis*. [Clinical Trial Publication]
Fernández-de-Misa R (2025). [PMID: 40562166](https://pubmed.ncbi.nlm.nih.gov/40562166/). *Actas Dermosifiliogr*. [Epidemiology / Natural History]
Castillo SD (2025). [PMID: 40152704](https://pubmed.ncbi.nlm.nih.gov/40152704/). *Cancer Discov*. [Basic Science / Preclinical]
Del Priore I (2025). [PMID: 40605508](https://pubmed.ncbi.nlm.nih.gov/40605508/). *Cancer Discov*. [Gene Therapy / Novel Therapeutics]