Cowden syndrome 7
MONDO:0014802Mondo
Findings
No curated finding names Cowden syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.
Definition from the Mondo Disease Ontology (MONDO:0014802), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Papillary thyroid carcinomaHPOHP:0002895
- 6 of 7 reported patients
- HemangiomaHPOHP:0001028
- MacrocephalyHPOHP:0000256
- TrichilemmomaHPOHP:0012844
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SEC23BHGNC:10702
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · G2P · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: Cowden syndrome 7
- Also called
- Cowden disease caused by mutation in SEC23BCowden syndrome type 7SEC23B Cowden disease