Cowden syndrome 6
MONDO:0014048Mondo
Findings
No curated finding names Cowden syndrome 6 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 AKT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014048), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Breast carcinomaHPOHP:0003002
- 1 of 2 reported patients
- PapillomaHPOHP:0012740
- 1 of 2 reported patients
- Renal cell carcinomaHPOHP:0005584
- 1 of 2 reported patients
- Thyroid carcinomaHPOHP:0002890
- 1 of 2 reported patients
- Thyroid noduleHPOHP:0025388
- 1 of 2 reported patients
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.
- AKT1HGNC:391
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Cowden syndrome 6
- Also called
- AKT1 Cowden diseaseCowden disease caused by mutation in AKT1Cowden syndrome type 6