Cowden syndrome 4
MONDO:0014046Mondo
Findings
No curated finding names Cowden syndrome 4 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 KLLN gene.
Definition from the Mondo Disease Ontology (MONDO:0014046), read 2026-09-29. CC BY 4.0.
Features
6 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
- Dysplastic gangliocytoma of the cerebellumHPOHP:0500009
- HamartomaHPOHP:0010566
- MacrocephalyHPOHP:0000256
- Renal neoplasmHPOHP:0009726
- 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.
- KLLNHGNC:37212
- No Known Disease Relationship · Ambry Genetics · Unknown · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Cowden syndrome 4
- Also called
- Cowden disease caused by mutation in KLLNCowden syndrome type 4KLLN Cowden disease