white sponge nevus 1
Findings
No curated finding names white sponge nevus 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.
Definition from the Mondo Disease Ontology (MONDO:0008676), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Oral leukoplakiaHPOHP:0002745
- 8 of 8 reported patients
- Abnormal conjunctiva morphologyHPOHP:0000502
- 0 of 8 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.
- KRT4HGNC:6441
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: white sponge nevus 1
- Also called
- hereditary mucosal leukokeratosis caused by mutation in KRT4KRT4 hereditary mucosal leukokeratosisWhite sponge Nevus type 1